#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF1	55672	broad.mit.edu	37	1	16907249	16907249	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:16907249T>C	ENST00000430580.2	-	16	2469	c.1582A>G	c.(1582-1584)Att>Gtt	p.I528V	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	528	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGGGAGAATGTTTACAGCA	0.423																																						uc009vos.1		NA																	0					0						c.(1582-1584)ATT>GTT		hypothetical protein LOC55672							535.0	558.0	550.0					1																	16907249		2199	4296	6495	SO:0001583	missense	55672					cytoplasm		g.chr1:16907249T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1582A>G	1.37:g.16907249T>C	ENSP00000474456:p.Ile528Val					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.I257V	p.I528V	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2470	-			528			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1582A>G																																																																																					0.423	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		17	649	0	0	0	0	17	649				
IQCC	55721	broad.mit.edu	37	1	32673134	32673134	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:32673134G>A	ENST00000291358.6	+	5	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	IQCC_ENST00000537469.1_Silent_p.P364P|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	284										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGACCACCGTCGTCTATAC	0.537																																						uc001bum.2		NA																	0				ovary(4)	4						c.(850-852)CCG>CCA		IQ motif containing C isoform 2							64.0	63.0	64.0					1																	32673134		2203	4300	6503	SO:0001819	synonymous_variant	55721							g.chr1:32673134G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.852G>A	1.37:g.32673134G>A						IQCC_uc009vua.2_Silent_p.P364P|IQCC_uc010ogz.1_Silent_p.P184P|DCDC2B_uc001bun.2_5'Flank	p.P284P	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			5	899	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	284					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	c.852G>A	CCDS355.1																																																																																				0.537	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		10	57	0	0	0	0	10	57				
OSCP1	127700	broad.mit.edu	37	1	36909632	36909632	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:36909632C>T	ENST00000356637.5	-	2	178	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	OSCP1_ENST00000354267.3_Intron|OSCP1_ENST00000315643.9_Missense_Mutation_p.E39K|OSCP1_ENST00000235532.5_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	39					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCTGTCCATTCATCTACATGA	0.418																																						uc001cap.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(115-117)GAA>AAA		oxidored-nitro domain-containing protein isoform							205.0	181.0	189.0					1																	36909632		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36909632C>T		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.115G>A	1.37:g.36909632C>T	ENSP00000349052:p.Glu39Lys					OSCP1_uc001caq.2_Intron|OSCP1_uc001car.2_Intron	p.E39K	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			2	197	-			39					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.115G>A		.	.	.	.	.	.	.	.	.	.	C	17.82	3.483394	0.63962	.	.	ENSG00000116885	ENST00000356637;ENST00000315643	T;T	0.23147	1.93;1.92	5.55	5.55	0.83447	.	0.626876	0.11309	U	0.577316	T	0.28532	0.0706	.	.	.	0.31787	N	0.630133	P	0.39717	0.684	B	0.41036	0.346	T	0.18209	-1.0344	9	0.28530	T	0.3	.	18.5072	0.90901	0.0:1.0:0.0:0.0	.	39	Q8WVF1	OSCP1_HUMAN	K	39	ENSP00000349052:E39K;ENSP00000314541:E39K	ENSP00000314541:E39K	E	-	1	0	OSCP1	36682219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.746000	0.74866	2.623000	0.88846	0.467000	0.42956	GAA		0.418	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		10	129	0	0	0	0	10	129				
GLIS1	148979	broad.mit.edu	37	1	54060498	54060498	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:54060498G>A	ENST00000312233.2	-	3	644	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TTCGGCCCGGGAGGTCCAGGT	0.706																																						uc001cvr.1		NA																	0				skin(1)	1						c.(76-78)CTC>CTT		GLIS family zinc finger 1							13.0	19.0	17.0					1																	54060498		2161	4214	6375	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060498G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.78C>T	1.37:g.54060498G>A							p.L26L	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	645	-			26						Silent	SNP	ENST00000312233.2	37	c.78C>T	CCDS582.1																																																																																				0.706	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		3	11	0	0	0	0	3	11				
LRIG2	9860	broad.mit.edu	37	1	113657399	113657399	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:113657399A>G	ENST00000361127.5	+	15	2629	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	811					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CATTGTCATCATTGTTGTGGT	0.423																																						uc001edf.1		NA																	0				ovary(3)	3						c.(2431-2433)ATT>GTT		leucine-rich repeats and immunoglobulin-like							252.0	177.0	202.0					1																	113657399		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657399A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2431A>G	1.37:g.113657399A>G	ENSP00000355396:p.Ile811Val					LRIG2_uc009wgn.1_Missense_Mutation_p.I708V	p.I811V	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2629	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	811			Helical; (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2431A>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	a	23.8	4.458913	0.84317	.	.	ENSG00000198799	ENST00000361127	T	0.65178	-0.14	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.81802	2.56	0.49051	D	0.999745	D	0.56521	0.976	P	0.53689	0.732	T	0.72093	-0.4394	10	0.48119	T	0.1	.	15.2019	0.73147	1.0:0.0:0.0:0.0	.	811	O94898	LRIG2_HUMAN	V	811	ENSP00000355396:I811V	ENSP00000355396:I811V	I	+	1	0	LRIG2	113458922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.265000	0.95647	1.991000	0.58162	0.459000	0.35465	ATT		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		14	95	0	0	0	0	14	95				
TTF2	8458	broad.mit.edu	37	1	117644143	117644143	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:117644143C>T	ENST00000369466.4	+	23	3530	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1162					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTTTGGCATCTAACCTCCTG	0.443																																						uc001egy.2		NA																	0				ovary(1)	1						c.(3484-3486)ATC>ATT		transcription termination factor, RNA polymerase							198.0	195.0	196.0					1																	117644143		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117644143C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3486C>T	1.37:g.117644143C>T							p.I1162I	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	23	3506	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	1162					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.3486C>T	CCDS892.1																																																																																				0.443	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			22	201	0	0	0	0	22	201				
HIST2H2BF	440689	broad.mit.edu	37	1	149783657	149783657	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:149783657G>C	ENST00000369167.1	-	1	257	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.I74M|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.I74M|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642																																						uc001esr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ATC>ATG		histone cluster 2, H2bf isoform a							60.0	56.0	57.0					1																	149783657		2202	4277	6479	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783657G>C	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.222C>G	1.37:g.149783657G>C	ENSP00000358164:p.Ile74Met					HIST2H2BF_uc010pbj.1_Missense_Mutation_p.I74M|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.I74M	p.I74M	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	272	-	Breast(34;0.0124)|all_hematologic(923;0.127)		74					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.222C>G	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982357	0.53827	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.46063	0.88;0.88;0.88	3.56	2.64	0.31445	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000151	T	0.59128	0.2171	M	0.90595	3.13	0.41689	D	0.989332	D;D;D	0.76494	0.975;0.999;0.984	P;D;D	0.80764	0.902;0.994;0.966	T	0.67776	-0.5583	10	0.87932	D	0	.	10.5554	0.45114	0.0999:0.0:0.9001:0.0	.	74;74;74	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	M	74	ENSP00000445831:I74M;ENSP00000407461:I74M;ENSP00000358164:I74M	ENSP00000358164:I74M	I	-	3	3	HIST2H2BF	148050281	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	2.669000	0.46825	1.082000	0.41137	0.195000	0.17529	ATC		0.642	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		6	124	0	0	0	0	6	124				
ANXA9	8416	broad.mit.edu	37	1	150956843	150956843	+	Silent	SNP	C	C	T	rs150030788		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:150956843C>T	ENST00000368947.4	+	6	830	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	118					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.D118D(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCAGTTTGACGCCCAGGAAT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17884	0.0		0.0	False		,,,				2504	0.0					uc001ewa.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(352-354)GAC>GAT		annexin A9		C		3,4403	6.2+/-15.9	0,3,2200	96.0	90.0	92.0		354	1.3	1.0	1	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	ANXA9	NM_003568.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		118/346	150956843	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150956843C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.354C>T	1.37:g.150956843C>T							p.D118D	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	824	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		118			Annexin 2.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.354C>T	CCDS975.2																																																																																				0.552	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		8	115	0	0	0	0	8	115				
SH2D2A	9047	broad.mit.edu	37	1	156779022	156779022	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:156779022G>A	ENST00000368199.3	-	7	1128	c.975C>T	c.(973-975)agC>agT	p.S325S	SH2D2A_ENST00000368198.3_Silent_p.S307S|SH2D2A_ENST00000392306.2_Silent_p.S335S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	325	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTGGACCAGCTCTTCCGTA	0.612																																						uc001fqd.2		NA																	0					0						c.(973-975)AGC>AGT		SH2 domain protein 2A isoform 2							144.0	142.0	143.0					1																	156779022		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779022G>A	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.975C>T	1.37:g.156779022G>A						SH2D2A_uc001fqc.1_Silent_p.S297S|SH2D2A_uc009wsh.2_Silent_p.S335S|SH2D2A_uc001fqe.2_Silent_p.S307S|SH2D2A_uc010phs.1_Silent_p.S325S	p.S325S	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			7	1115	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		325			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.975C>T	CCDS1159.1																																																																																				0.612	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		17	226	0	0	0	0	17	226				
OR2T6	254879	broad.mit.edu	37	1	248551279	248551279	+	Missense_Mutation	SNP	G	G	A	rs201925418		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr1:248551279G>A	ENST00000355728.2	+	1	370	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACCGCTACGTGGCCATCTG	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		18288	0.0		0.001	False		,,,				2504	0.0					uc001iei.1		NA																	0				ovary(2)|skin(1)	3						c.(370-372)GTG>ATG		olfactory receptor, family 2, subfamily T,							92.0	91.0	91.0					1																	248551279		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551279G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.370G>A	1.37:g.248551279G>A	ENSP00000347965:p.Val124Met						p.V124M	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	370	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		124			Cytoplasmic (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.370G>A	CCDS31114.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.86	3.240314	0.58995	.	.	ENSG00000198104	ENST00000355728	T	0.20463	2.07	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000969	T	0.26991	0.0661	M	0.80847	2.515	0.36823	D	0.886513	P	0.49783	0.928	B	0.39379	0.298	T	0.48222	-0.9054	10	0.66056	D	0.02	.	12.9127	0.58189	0.0:0.1636:0.8364:0.0	.	124	Q8NHC8	OR2T6_HUMAN	M	124	ENSP00000347965:V124M	ENSP00000347965:V124M	V	+	1	0	OR2T6	246617902	0.180000	0.23148	0.999000	0.59377	0.830000	0.47004	0.515000	0.22801	2.423000	0.82170	0.643000	0.83706	GTG		0.567	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		10	68	0	0	0	0	10	68				
CACNB2	783	broad.mit.edu	37	10	18827254	18827254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:18827254C>G	ENST00000324631.7	+	13	1508	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	CACNB2_ENST00000377315.4_Nonsense_Mutation_p.S435*|CACNB2_ENST00000396576.2_Nonsense_Mutation_p.S428*|CACNB2_ENST00000282343.8_Nonsense_Mutation_p.S455*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.S431*|CACNB2_ENST00000377328.1_Nonsense_Mutation_p.S233*|CACNB2_ENST00000377319.3_Nonsense_Mutation_p.S390*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.S459*|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Nonsense_Mutation_p.S429*	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	483					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTAGCCACTTCAAGTCTGCCT	0.478																																						uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1447-1449)TCA>TGA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						173.0	175.0	175.0					10																	18827254		2203	4300	6503	SO:0001587	stop_gained	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18827254C>G	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1448C>G	10.37:g.18827254C>G	ENSP00000320025:p.Ser483*					CACNB2_uc009xjz.1_Nonsense_Mutation_p.S233*|CACNB2_uc001ips.2_Nonsense_Mutation_p.S459*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.S445*|CACNB2_uc001ipu.2_Nonsense_Mutation_p.S455*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.S431*|CACNB2_uc009xka.1_Nonsense_Mutation_p.S417*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.S390*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.S428*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.S405*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.S429*|CACNB2_uc010qco.1_Nonsense_Mutation_p.S397*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.S435*|NSUN6_uc001iqb.2_Intron	p.S483*	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1508	+			483					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Nonsense_Mutation	SNP	ENST00000324631.7	37	c.1448C>G	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988519	0.93106	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	.	.	.	5.6	5.6	0.85130	.	0.056446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-10.3221	19.6154	0.95632	0.0:1.0:0.0:0.0	.	.	.	.	X	483;459;233;455;431;428;390;429;435	.	ENSP00000282343:S455X	S	+	2	0	CACNB2	18867260	1.000000	0.71417	0.780000	0.31762	0.969000	0.65631	4.766000	0.62279	2.652000	0.90054	0.650000	0.86243	TCA		0.478	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	266	0	0	0	0	9	266				
GPR158	57512	broad.mit.edu	37	10	25887142	25887142	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:25887142G>C	ENST00000376351.3	+	11	2946	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	863					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAAACTAAAAGAAGACAGCGA	0.507																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2587-2589)GAA>CAA		G protein-coupled receptor 158 precursor							79.0	87.0	85.0					10																	25887142		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887142G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2587G>C	10.37:g.25887142G>C	ENSP00000365529:p.Glu863Gln					GPR158_uc001isk.2_Missense_Mutation_p.E238Q	p.E863Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2647	+			863			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2587G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628155	0.46944	.	.	ENSG00000151025	ENST00000376351	T	0.62105	0.05	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000016	T	0.60038	0.2238	L	0.48642	1.525	0.48571	D	0.999678	B	0.29988	0.264	B	0.32533	0.147	T	0.53989	-0.8360	10	0.25106	T	0.35	.	20.0221	0.97508	0.0:0.0:1.0:0.0	.	863	Q5T848	GP158_HUMAN	Q	863	ENSP00000365529:E863Q	ENSP00000365529:E863Q	E	+	1	0	GPR158	25927148	1.000000	0.71417	0.160000	0.22671	0.068000	0.16541	6.375000	0.73137	2.732000	0.93576	0.650000	0.86243	GAA		0.507	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	144	0	0	0	0	5	144				
ARMC4	55130	broad.mit.edu	37	10	28229719	28229719	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:28229719A>T	ENST00000305242.5	-	13	1851	c.1759T>A	c.(1759-1761)Tgt>Agt	p.C587S	ARMC4_ENST00000537576.1_Missense_Mutation_p.C279S|ARMC4_ENST00000545014.1_Missense_Mutation_p.C112S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	587					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCATGTGCACAGTCTAGTAGA	0.443																																						uc009xky.2		NA																	0				ovary(4)|skin(2)	6						c.(1759-1761)TGT>AGT		armadillo repeat containing 4							78.0	76.0	77.0					10																	28229719		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229719A>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1759T>A	10.37:g.28229719A>T	ENSP00000306410:p.Cys587Ser					ARMC4_uc010qds.1_Missense_Mutation_p.C112S|ARMC4_uc010qdt.1_Missense_Mutation_p.C279S|ARMC4_uc001itz.2_Missense_Mutation_p.C587S|ARMC4_uc010qdu.1_Missense_Mutation_p.C279S	p.C587S	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	1857	-			587					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1759T>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010612	0.35511	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.43688	0.94;0.94;0.94	5.12	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.085886	0.85682	D	0.000000	T	0.34279	0.0892	L	0.46819	1.47	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.16722	0.008;0.016	T	0.08722	-1.0708	10	0.22109	T	0.4	-3.5017	11.0163	0.47691	0.926:0.0:0.074:0.0	.	112;587	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	S	279;587;112	ENSP00000443208:C279S;ENSP00000306410:C587S;ENSP00000441076:C112S	ENSP00000306410:C587S	C	-	1	0	ARMC4	28269725	1.000000	0.71417	0.249000	0.24280	0.026000	0.11368	5.907000	0.69908	0.894000	0.36317	0.533000	0.62120	TGT		0.443	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		6	66	0	0	0	0	6	66				
NRP1	8829	broad.mit.edu	37	10	33502550	33502550	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:33502550C>G	ENST00000265371.4	-	10	1903	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NRP1_ENST00000395995.1_Missense_Mutation_p.E460Q|NRP1_ENST00000374822.4_Missense_Mutation_p.E460Q|NRP1_ENST00000374875.1_Missense_Mutation_p.E279Q|NRP1_ENST00000374867.2_Missense_Mutation_p.E460Q|NRP1_ENST00000374816.3_Missense_Mutation_p.E460Q|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374821.5_Missense_Mutation_p.E460Q|NRP1_ENST00000374823.5_Missense_Mutation_p.E460Q|NRP1_ENST00000432372.2_Missense_Mutation_p.E460Q			O14786	NRP1_HUMAN	neuropilin 1	460	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CGGATGTTTTCAGGCATCCAG	0.517																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1378-1380)GAA>CAA		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						151.0	139.0	143.0					10																	33502550		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502550C>G	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1378G>C	10.37:g.33502550C>G	ENSP00000265371:p.Glu460Gln					NRP1_uc001iwv.3_Missense_Mutation_p.E460Q|NRP1_uc009xlz.2_Missense_Mutation_p.E460Q|NRP1_uc001iww.3_Missense_Mutation_p.E279Q|NRP1_uc001iwy.3_Missense_Mutation_p.E460Q|NRP1_uc001iwz.2_Missense_Mutation_p.E460Q|NRP1_uc001ixa.2_Missense_Mutation_p.E460Q|NRP1_uc001ixb.1_Missense_Mutation_p.E460Q|NRP1_uc001ixc.1_Missense_Mutation_p.E460Q	p.E460Q	NM_003873	NP_003864	O14786	NRP1_HUMAN			9	1901	-			460			Extracellular (Potential).|F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1378G>C	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349181	0.61183	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.64	5.64	0.86602	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.997;0.998;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.996;0.997;0.997;0.998;0.976;0.986;0.998;0.998;0.984	D	0.99734	1.1013	10	0.34782	T	0.22	-30.8292	19.7049	0.96069	0.0:1.0:0.0:0.0	.	460;460;460;460;460;460;460;279;460	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	Q	460;279;460;460;460;460;460;460;133	ENSP00000265371:E460Q;ENSP00000364009:E279Q;ENSP00000364001:E460Q;ENSP00000379317:E460Q;ENSP00000363955:E460Q;ENSP00000363954:E460Q;ENSP00000363956:E460Q;ENSP00000363949:E460Q;ENSP00000408911:E133Q	ENSP00000265371:E460Q	E	-	1	0	NRP1	33542556	1.000000	0.71417	0.568000	0.28447	0.564000	0.35744	5.916000	0.69981	2.655000	0.90218	0.591000	0.81541	GAA		0.517	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			11	136	0	0	0	0	11	136				
RHOBTB1	9886	broad.mit.edu	37	10	62631978	62631978	+	Missense_Mutation	SNP	G	G	C	rs148172627		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:62631978G>C	ENST00000337910.5	-	10	2223	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S629C|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	629					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACGGAACTTGGAGCATACACT	0.483																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1885-1887)TCC>TGC		Rho-related BTB domain containing 1		G	CYS/SER,CYS/SER	0,4406		0,0,2203	167.0	156.0	159.0		1886,1886	5.6	1.0	10	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RHOBTB1	NM_001242359.1,NM_014836.4	112,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	629/697,629/697	62631978	1,13005	2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62631978G>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1886C>G	10.37:g.62631978G>C	ENSP00000338671:p.Ser629Cys					RHOBTB1_uc001jlh.2_Missense_Mutation_p.S629C|RHOBTB1_uc001jlj.2_Missense_Mutation_p.S629C|RHOBTB1_uc001jlk.2_Missense_Mutation_p.S629C|RHOBTB1_uc009xpe.1_Missense_Mutation_p.S567C|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.S379C	p.S629C	NM_014836	NP_055651	O94844	RHBT1_HUMAN			11	2324	-	Prostate(12;0.0112)		629						Missense_Mutation	SNP	ENST00000337910.5	37	c.1886C>G	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344458	0.82022	0.0	1.16E-4	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.16073	2.37;2.37	5.6	5.6	0.85130	.	0.239257	0.37304	N	0.002145	T	0.25791	0.0628	L	0.34521	1.04	0.46044	D	0.998834	P	0.41159	0.74	P	0.48840	0.592	T	0.00862	-1.1536	10	0.87932	D	0	.	19.6143	0.95626	0.0:0.0:1.0:0.0	.	629	O94844	RHBT1_HUMAN	C	629	ENSP00000350595:S629C;ENSP00000338671:S629C	ENSP00000338671:S629C	S	-	2	0	RHOBTB1	62301984	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.135000	0.71696	2.640000	0.89533	0.561000	0.74099	TCC		0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			5	115	0	0	0	0	5	115				
RUFY2	55680	broad.mit.edu	37	10	70156542	70156542	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:70156542G>A	ENST00000602465.1	-	4	493	c.393C>T	c.(391-393)ctC>ctT	p.L131L	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Silent_p.L73L|RUFY2_ENST00000388768.2_Silent_p.L166L|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Silent_p.L131L			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	180	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTAACCTCAAGAGATCCCTCT	0.353																																						uc001job.2		NA																	0				ovary(1)	1						c.(496-498)CTC>CTT		RUN and FYVE domain-containing 2 isoform a							68.0	67.0	67.0					10																	70156542		1820	4077	5897	SO:0001819	synonymous_variant	55680					nucleus	metal ion binding	g.chr10:70156542G>A	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.393C>T	10.37:g.70156542G>A						RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Silent_p.L73L|RUFY2_uc001jod.1_Silent_p.L131L|RUFY2_uc009xpv.1_Silent_p.L14L|RUFY2_uc001joe.1_Silent_p.L131L	p.L166L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			4	825	-			180			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Silent	SNP	ENST00000602465.1	37	c.498C>T																																																																																					0.353	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	41	0	0	0	0	6	41				
VCL	7414	broad.mit.edu	37	10	75855416	75855416	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:75855416C>G	ENST00000211998.4	+	12	1640	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	VCL_ENST00000372755.3_Missense_Mutation_p.Q516E|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	516	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGGTCCAGGTCAGGCTGCCAT	0.527																																						uc001jwd.2		NA																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1546-1548)CAG>GAG		vinculin isoform meta-VCL							66.0	69.0	68.0					10																	75855416		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75855416C>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1546C>G	10.37:g.75855416C>G	ENSP00000211998:p.Gln516Glu					VCL_uc009xrr.2_Missense_Mutation_p.Q265E|VCL_uc010qky.1_Missense_Mutation_p.Q423E|VCL_uc001jwe.2_Missense_Mutation_p.Q516E|VCL_uc010qkz.1_Intron	p.Q516E	NM_014000	NP_054706	P18206	VINC_HUMAN			12	1640	+	Prostate(51;0.0112)		516			N-terminal globular head.|3.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1546C>G	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026696	0.75390	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.71222	-0.55;-0.55;-0.55	5.5	5.5	0.81552	.	0.058802	0.64402	D	0.000001	T	0.75199	0.3817	L	0.36672	1.1	0.80722	D	1	P;P;B	0.52842	0.955;0.956;0.062	B;D;B	0.63488	0.364;0.915;0.053	T	0.67213	-0.5727	10	0.07990	T	0.79	.	19.4789	0.95000	0.0:1.0:0.0:0.0	.	443;516;516	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	516;516;423;443;188	ENSP00000361841:Q516E;ENSP00000211998:Q516E;ENSP00000415489:Q188E	ENSP00000211998:Q516E	Q	+	1	0	VCL	75525422	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.456000	0.80751	2.594000	0.87642	0.644000	0.83932	CAG		0.527	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		4	88	0	0	0	0	4	88				
LGI1	9211	broad.mit.edu	37	10	95556810	95556810	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:95556810C>G	ENST00000371418.4	+	8	1184	c.924C>G	c.(922-924)atC>atG	p.I308M	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I260M	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	308					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCTCTCACATCTATAAGCGAG	0.373																																						uc001kjc.3		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(922-924)ATC>ATG		leucine-rich, glioma inactivated 1 precursor							125.0	115.0	118.0					10																	95556810		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556810C>G	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.924C>G	10.37:g.95556810C>G	ENSP00000360472:p.Ile308Met					LGI1_uc010qnv.1_Missense_Mutation_p.I260M|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	p.I308M	NM_005097	NP_005088	O95970	LGI1_HUMAN			8	1260	+		Colorectal(252;0.124)	308			EAR 2.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.924C>G	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013165	0.35511	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.86366	-2.11;-2.11	4.87	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.71581	2.175	0.53005	D	0.999966	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	D	0.90048	0.4147	10	0.87932	D	0	-9.2986	5.523	0.16943	0.1917:0.6428:0.0:0.1655	.	260;308	O95970-3;O95970	.;LGI1_HUMAN	M	260;308	ENSP00000440763:I260M;ENSP00000360472:I308M	ENSP00000360472:I308M	I	+	3	3	LGI1	95546800	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.716000	0.25836	2.520000	0.84964	0.655000	0.94253	ATC		0.373	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		4	77	0	0	0	0	4	77				
PDCD11	22984	broad.mit.edu	37	10	105203734	105203734	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:105203734C>G	ENST00000369797.3	+	34	5281	c.5187C>G	c.(5185-5187)atC>atG	p.I1729M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1729					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGTGTGGATCAAATACGGCG	0.597																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(5185-5187)ATC>ATG		programmed cell death 11							77.0	75.0	76.0					10																	105203734		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203734C>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5187C>G	10.37:g.105203734C>G	ENSP00000358812:p.Ile1729Met						p.I1729M	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5274	+		Colorectal(252;0.0747)|Breast(234;0.128)	1729			HAT 2.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.5187C>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422415	0.62622	.	.	ENSG00000148843	ENST00000369797	T	0.43688	0.94	5.67	2.67	0.31697	Tetratricopeptide-like helical (1);Suppressor of forked (1);Tetratricopeptide repeat-containing (1);	0.250374	0.40640	N	0.001060	T	0.39200	0.1069	L	0.52126	1.63	0.42635	D	0.993395	P	0.41393	0.748	P	0.45577	0.486	T	0.24012	-1.0172	10	0.62326	D	0.03	-5.6006	5.6569	0.17647	0.0:0.5156:0.235:0.2494	.	1729	Q14690	RRP5_HUMAN	M	1729	ENSP00000358812:I1729M	ENSP00000358812:I1729M	I	+	3	3	PDCD11	105193724	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.797000	0.26999	0.753000	0.32945	0.561000	0.74099	ATC		0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			9	94	0	0	0	0	9	94				
ACSL5	51703	broad.mit.edu	37	10	114169340	114169340	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:114169340C>T	ENST00000393081.1	+	7	915	c.608C>T	c.(607-609)aCc>aTc	p.T203I	ACSL5_ENST00000369410.3_5'UTR|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.T203I|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.T203I|ACSL5_ENST00000354655.4_Missense_Mutation_p.T203I|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.T259I|RP11-324O2.3_ENST00000449782.2_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	203					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AAAGGCTTCACCCCGAGCCTG	0.478																																						uc001kzs.2		NA																	0				large_intestine(2)|skin(1)	3						c.(607-609)ACC>ATC		acyl-CoA synthetase long-chain family member 5							182.0	162.0	169.0					10																	114169340		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114169340C>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.608C>T	10.37:g.114169340C>T	ENSP00000376796:p.Thr203Ile					ACSL5_uc001kzt.2_Missense_Mutation_p.T203I|ACSL5_uc001kzu.2_Missense_Mutation_p.T259I|ACSL5_uc009xxz.2_Missense_Mutation_p.T203I|ACSL5_uc010qrj.1_5'UTR	p.T203I	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	7	749	+		Colorectal(252;0.117)|Breast(234;0.222)	203			Cytoplasmic (Potential).		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.608C>T	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	C	3.208	-0.162247	0.06502	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.8	3.97	0.46021	AMP-dependent synthetase/ligase (1);	0.206697	0.49916	N	0.000123	T	0.09024	0.0223	L	0.36672	1.1	0.80722	D	1	B;B;B	0.17667	0.023;0.007;0.003	B;B;B	0.24155	0.051;0.011;0.013	T	0.20207	-1.0282	10	0.22109	T	0.4	-5.0977	9.0585	0.36421	0.0:0.7715:0.0:0.2285	.	203;259;203	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	I	203;203;259;203;203	ENSP00000346680:T203I;ENSP00000376796:T203I;ENSP00000348429:T259I;ENSP00000403647:T203I;ENSP00000346223:T203I	ENSP00000346223:T203I	T	+	2	0	ACSL5	114159330	0.512000	0.26186	0.126000	0.21872	0.035000	0.12851	1.196000	0.32198	0.807000	0.34208	0.591000	0.81541	ACC		0.478	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		16	118	0	0	0	0	16	118				
PRLHR	2834	broad.mit.edu	37	10	120353832	120353832	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:120353832C>T	ENST00000369169.1	-	1	924	c.925G>A	c.(925-927)Gac>Aac	p.D309N	PRLHR_ENST00000239032.2_Missense_Mutation_p.D309N			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	309					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGTAAGGGTCGATGGCGTGG	0.632																																						uc001ldp.1		NA																	0					0						c.(925-927)GAC>AAC		G protein-coupled receptor 10							47.0	47.0	47.0					10																	120353832		2203	4300	6503	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353832C>T	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.925G>A	10.37:g.120353832C>T	ENSP00000358167:p.Asp309Asn						p.D309N	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1064	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	309			Extracellular (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.925G>A	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400705	0.42613	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.71103	-0.54;-0.54	4.38	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.113218	0.64402	D	0.000014	T	0.48447	0.1500	N	0.25060	0.705	0.36206	D	0.851028	P	0.44260	0.83	B	0.34093	0.175	T	0.56486	-0.7971	10	0.13853	T	0.58	.	12.6391	0.56698	0.0:0.9176:0.0:0.0824	.	309	P49683	PRLHR_HUMAN	N	309	ENSP00000239032:D309N;ENSP00000358167:D309N	ENSP00000239032:D309N	D	-	1	0	PRLHR	120343822	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.420000	0.34804	2.255000	0.74692	0.561000	0.74099	GAC		0.632	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		5	69	0	0	0	0	5	69				
GRK5	2869	broad.mit.edu	37	10	121207689	121207689	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr10:121207689G>A	ENST00000392870.2	+	13	1650	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	GRK5_ENST00000369108.3_Missense_Mutation_p.E336K	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	441	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGGGGCTGCAGAGGTCAAGAG	0.597																																						uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(1321-1323)GAG>AAG		G protein-coupled receptor kinase 5							117.0	126.0	123.0					10																	121207689		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121207689G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1321G>A	10.37:g.121207689G>A	ENSP00000376609:p.Glu441Lys					GRK5_uc009xzh.2_Missense_Mutation_p.E306K	p.E441K	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	13	1554	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	441			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1321G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	17.95	3.513251	0.64522	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.29397	1.57;1.57	4.11	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.211467	0.31246	N	0.007999	T	0.37320	0.0999	M	0.75085	2.285	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.41502	-0.9505	10	0.62326	D	0.03	-19.4252	16.5366	0.84374	0.0:0.0:1.0:0.0	.	441;441	B2R7K0;P34947	.;GRK5_HUMAN	K	441;184;336	ENSP00000376609:E441K;ENSP00000358104:E336K	ENSP00000358104:E336K	E	+	1	0	GRK5	121197679	1.000000	0.71417	0.906000	0.35671	0.991000	0.79684	7.771000	0.85420	2.086000	0.62901	0.655000	0.94253	GAG		0.597	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		21	116	0	0	0	0	21	116				
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A	rs371119617		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512																																						uc001lzr.1		NA																	3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	skin(2)	2						c.(622-624)ATC>ATT		olfactory receptor, family 51, subfamily G,		G		2,4400	4.2+/-10.8	0,2,2199	135.0	109.0	118.0		624	-1.6	0.2	11		118	0,8596		0,0,4298	no	coding-synonymous	OR51G2	NM_001005238.1		0,2,6497	AA,AG,GG		0.0,0.0454,0.0154		208/315	4936270	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936270G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.624C>T	11.37:g.4936270G>A							p.I208I	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	624	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	208			Helical; Name=5; (Potential).		Q6IFH7	Silent	SNP	ENST00000322013.3	37	c.624C>T	CCDS31365.1																																																																																				0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		4	33	0	0	0	0	4	33				
CYP2R1	120227	broad.mit.edu	37	11	14899669	14899669	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14899669C>A	ENST00000334636.5	-	5	1551	c.1505G>T	c.(1504-1506)tGa>tTa	p.*502L	CYP2R1_ENST00000532378.1_Nonstop_Mutation_p.*269L|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	0					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CAGGCAGTTTCAGCGTCTTTC	0.418																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1504-1506)TGA>TTA		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						134.0	122.0	126.0					11																	14899669		2200	4294	6494	SO:0001578	stop_lost	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14899669C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.1505G>T	11.37:g.14899669C>A						CYP2R1_uc001mlo.2_Nonstop_Mutation_p.*269L|CYP2R1_uc001mlp.2_Nonstop_Mutation_p.*385L|CYP2R1_uc001mlq.2_RNA	p.*502L	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			5	1505	-			502					Q2M3H3|Q5RT65	Nonstop_Mutation	SNP	ENST00000334636.5	37	c.1505G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351576	0.61183	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	.	.	.	5.33	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4081	0.49911	0.0:0.8519:0.0:0.1481	.	.	.	.	L	269;502	.	.	X	-	2	2	CYP2R1	14856245	1.000000	0.71417	0.992000	0.48379	0.831000	0.47069	1.659000	0.37387	0.904000	0.36572	0.655000	0.94253	TGA		0.418	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		9	89	1	0	0.000442599	0.00164627	9	89				
CYP2R1	120227	broad.mit.edu	37	11	14900748	14900748	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:14900748C>A	ENST00000334636.5	-	4	1288	c.1242G>T	c.(1240-1242)tgG>tgT	p.W414C	CYP2R1_ENST00000532378.1_Missense_Mutation_p.W181C|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	414					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGGGTCTCTCCAGTACTTTT	0.408																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1240-1242)TGG>TGT		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						68.0	64.0	65.0					11																	14900748		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14900748C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.1242G>T	11.37:g.14900748C>A	ENSP00000334592:p.Trp414Cys					CYP2R1_uc001mlo.2_Missense_Mutation_p.W181C|CYP2R1_uc001mlp.2_Missense_Mutation_p.W297C|CYP2R1_uc001mlq.2_RNA	p.W414C	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			4	1242	-			414					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.1242G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	41	8.956765	0.99016	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.74737	-0.87;-0.87	5.63	5.63	0.86233	.	0.052052	0.85682	D	0.000000	D	0.91862	0.7424	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94029	0.7299	9	.	.	.	.	20.0396	0.97574	0.0:1.0:0.0:0.0	.	414;181	Q6VVX0;E9PJT9	CP2R1_HUMAN;.	C	181;414	ENSP00000435484:W181C;ENSP00000334592:W414C	.	W	-	3	0	CYP2R1	14857324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.509000	0.81698	2.814000	0.96858	0.563000	0.77884	TGG		0.408	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		5	53	1	0	0.000602214	0.00222735	5	53				
OR5AR1	219493	broad.mit.edu	37	11	56431616	56431616	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:56431616G>A	ENST00000302969.2	+	1	479	c.455G>A	c.(454-456)gGt>gAt	p.G152D		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TACCTGGCTGGTCTAGTGAGT	0.502																																						uc010rjm.1		NA																	0					0						c.(454-456)GGT>GAT		olfactory receptor, family 5, subfamily AR,							203.0	181.0	189.0					11																	56431616		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431616G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.455G>A	11.37:g.56431616G>A	ENSP00000302639:p.Gly152Asp						p.G152D	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	455	+			152			Helical; Name=4; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.455G>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441238	0.43326	.	.	ENSG00000172459	ENST00000302969	T	0.40756	1.02	4.94	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000176	T	0.72350	0.3449	H	0.97291	3.975	0.09310	N	0.999998	D	0.76494	0.999	D	0.70487	0.969	T	0.66791	-0.5834	10	0.87932	D	0	.	8.951	0.35790	0.0777:0.0:0.7742:0.1481	.	152	Q8NGP9	O5AR1_HUMAN	D	152	ENSP00000302639:G152D	ENSP00000302639:G152D	G	+	2	0	OR5AR1	56188192	0.876000	0.30132	0.958000	0.39756	0.901000	0.52897	2.044000	0.41241	0.680000	0.31366	0.573000	0.79308	GGT		0.502	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		13	161	0	0	0	0	13	161				
CTNND1	1500	broad.mit.edu	37	11	57578934	57578934	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:57578934C>T	ENST00000399050.4	+	17	3150	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	CTNND1_ENST00000399039.4_Missense_Mutation_p.L872F|CTNND1_ENST00000361391.6_Missense_Mutation_p.L866F|CTNND1_ENST00000528232.1_Missense_Mutation_p.L771F|CTNND1_ENST00000358694.6_Missense_Mutation_p.L866F|CTNND1_ENST00000529526.1_Missense_Mutation_p.L812F|CTNND1_ENST00000360682.6_Missense_Mutation_p.L872F|CTNND1_ENST00000361332.4_Missense_Mutation_p.L866F|CTNND1_ENST00000530748.1_Missense_Mutation_p.L818F|CTNND1_ENST00000529986.1_Missense_Mutation_p.L765F|CTNND1_ENST00000529919.1_Missense_Mutation_p.L872F|CTNND1_ENST00000528621.1_Missense_Mutation_p.L812F|CTNND1_ENST00000526357.1_Missense_Mutation_p.L812F|CTNND1_ENST00000531014.1_Missense_Mutation_p.L543F|CTNND1_ENST00000415361.2_Missense_Mutation_p.L771F|CTNND1_ENST00000532463.1_Missense_Mutation_p.L765F|CTNND1_ENST00000532844.1_Missense_Mutation_p.L818F|CTNND1_ENST00000525902.1_Missense_Mutation_p.L549F|CTNND1_ENST00000532787.1_Missense_Mutation_p.L765F|CTNND1_ENST00000526938.1_Missense_Mutation_p.L872F|CTNND1_ENST00000534579.1_Missense_Mutation_p.L812F|CTNND1_ENST00000533667.1_Missense_Mutation_p.L543F|CTNND1_ENST00000532649.1_Missense_Mutation_p.L812F|CTNND1_ENST00000361796.4_Missense_Mutation_p.L866F|CTNND1_ENST00000532245.1_Missense_Mutation_p.L765F|CTNND1_ENST00000530094.1_Missense_Mutation_p.L765F|CTNND1_ENST00000527467.1_Missense_Mutation_p.L549F|CTNND1_ENST00000524630.1_Missense_Mutation_p.L866F|CTNND1_ENST00000428599.2_Missense_Mutation_p.L866F|CTNND1_ENST00000426142.2_Missense_Mutation_p.L765F|CTNND1_ENST00000526772.1_Missense_Mutation_p.L543F|CTNND1_ENST00000529873.1_Missense_Mutation_p.L812F	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	872					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TACTCTCCCTCTCATTGACCG	0.438																																						uc001nmc.3		NA																	0				breast(4)|ovary(1)|kidney(1)	6						c.(2614-2616)CTC>TTC		catenin, delta 1 isoform 1ABC							233.0	214.0	220.0					11																	57578934		1920	4134	6054	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57578934C>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2614C>T	11.37:g.57578934C>T	ENSP00000382004:p.Leu872Phe					CTNND1_uc001nlh.1_Missense_Mutation_p.L872F|CTNND1_uc001nlu.3_Missense_Mutation_p.L765F|CTNND1_uc001nlt.3_Missense_Mutation_p.L765F|CTNND1_uc001nls.3_Missense_Mutation_p.L765F|CTNND1_uc001nlw.3_Missense_Mutation_p.L765F|CTNND1_uc001nmf.3_Missense_Mutation_p.L872F|CTNND1_uc001nmd.3_Missense_Mutation_p.L818F|CTNND1_uc001nlk.3_Missense_Mutation_p.L818F|CTNND1_uc001nme.3_Missense_Mutation_p.L866F|CTNND1_uc001nll.3_Missense_Mutation_p.L812F|CTNND1_uc001nmg.3_Missense_Mutation_p.L812F|CTNND1_uc001nlj.3_Missense_Mutation_p.L812F|CTNND1_uc001nlr.3_Missense_Mutation_p.L812F|CTNND1_uc001nlp.3_Missense_Mutation_p.L812F|CTNND1_uc001nlx.3_Missense_Mutation_p.L549F|CTNND1_uc001nlz.3_Missense_Mutation_p.L549F|CTNND1_uc009ymn.2_Missense_Mutation_p.L543F|CTNND1_uc001nlm.3_Missense_Mutation_p.L866F|CTNND1_uc001nly.3_Missense_Mutation_p.L543F|CTNND1_uc001nmb.3_Missense_Mutation_p.L543F|CTNND1_uc001nma.3_Missense_Mutation_p.L543F|CTNND1_uc001nmi.3_Missense_Mutation_p.L771F|CTNND1_uc001nmh.3_Missense_Mutation_p.L866F|CTNND1_uc001nlq.3_Missense_Mutation_p.L771F|CTNND1_uc001nln.3_Missense_Mutation_p.L866F|CTNND1_uc001nli.3_Missense_Mutation_p.L866F|CTNND1_uc001nlo.3_Missense_Mutation_p.L765F|CTNND1_uc001nlv.3_Missense_Mutation_p.L765F	p.L872F	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			17	3185	+		all_epithelial(135;0.155)	872					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.2614C>T	CCDS44604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.148956|5.148956	0.94645|0.94645	.|.	.|.	ENSG00000198561|ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938|ENST00000531007	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77620|.	-0.5;-0.5;-0.5;-0.86;-0.5;-0.51;-0.41;-0.52;-0.86;-0.52;-0.41;-0.41;-0.5;-0.73;-1.11;-0.51;-0.51;-0.51;-0.5;-0.67;-0.41;-0.68;-0.66;-0.85;-0.65;-0.52;-0.52;-0.5;-0.5;-0.41;-0.51;-0.85|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.062472|.	0.64402|.	D|.	0.000003|.	T|T	0.74711|0.74711	0.3752|0.3752	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.997;0.999;0.999;0.999;1.0;0.999;0.997|.	T|T	0.70575|0.70575	-0.4834|-0.4834	10|5	0.59425|.	D|.	0.04|.	-14.9163|-14.9163	19.9118|19.9118	0.97027|0.97027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	872;866;872;765;812;812;866;872;872|.	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2|.	.;.;CTND1_HUMAN;.;.;.;.;.;.|.	F|F	866;872;872;872;866;812;765;872;866;866;765;765;866;765;543;812;812;818;866;549;771;543;543;812;549;818;812;765;771;765;812;872|48	ENSP00000436543:L866F;ENSP00000434808:L872F;ENSP00000381996:L872F;ENSP00000353902:L872F;ENSP00000354907:L866F;ENSP00000436323:L812F;ENSP00000409930:L765F;ENSP00000382004:L872F;ENSP00000354785:L866F;ENSP00000354823:L866F;ENSP00000432075:L765F;ENSP00000437156:L765F;ENSP00000351527:L866F;ENSP00000434949:L765F;ENSP00000437051:L543F;ENSP00000435379:L812F;ENSP00000432243:L812F;ENSP00000436744:L818F;ENSP00000413586:L866F;ENSP00000434900:L549F;ENSP00000435266:L771F;ENSP00000432623:L543F;ENSP00000433158:L543F;ENSP00000435494:L812F;ENSP00000434672:L549F;ENSP00000433276:L818F;ENSP00000433334:L812F;ENSP00000437327:L765F;ENSP00000403518:L771F;ENSP00000434017:L765F;ENSP00000435789:L812F;ENSP00000432041:L872F|.	ENSP00000351527:L866F|.	L|S	+|+	1|2	0|0	CTNND1|CTNND1	57335510|57335510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.660000|5.660000	0.68018|0.68018	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	CTC|TCT		0.438	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		8	158	0	0	0	0	8	158				
MYRF	745	broad.mit.edu	37	11	61551813	61551813	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:61551813G>C	ENST00000278836.5	+	25	3352	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	MYRF_ENST00000389602.4_Missense_Mutation_p.E472Q|MYRF_ENST00000265460.5_Missense_Mutation_p.E1046Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1086					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCATGTGAGGAGGGGAGCCT	0.622																																						uc001nsc.1		NA																	0				breast(1)	1						c.(3256-3258)GAG>CAG		myelin gene regulatory factor isoform 2							67.0	54.0	59.0					11																	61551813		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61551813G>C		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3256G>C	11.37:g.61551813G>C	ENSP00000278836:p.Glu1086Gln					C11orf9_uc001nse.1_Missense_Mutation_p.E1046Q|C11orf9_uc010rll.1_Missense_Mutation_p.E472Q	p.E1086Q	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			25	3352	+			1086					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3256G>C	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463862	0.43736	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.47869	0.83;0.83;0.83	4.74	4.74	0.60224	.	0.308939	0.35124	N	0.003439	T	0.55178	0.1904	L	0.38531	1.155	0.80722	D	1	D;P;P	0.60160	0.987;0.779;0.891	P;B;P	0.62298	0.9;0.215;0.502	T	0.55768	-0.8089	10	0.54805	T	0.06	-32.1302	13.97	0.64233	0.0:0.0:1.0:0.0	.	472;1046;1086	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	Q	1086;1046;472	ENSP00000278836:E1086Q;ENSP00000265460:E1046Q;ENSP00000374253:E472Q	ENSP00000265460:E1046Q	E	+	1	0	C11orf9	61308389	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	2.791000	0.47829	2.553000	0.86117	0.655000	0.94253	GAG		0.622	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		4	50	0	0	0	0	4	50				
CD248	57124	broad.mit.edu	37	11	66083138	66083138	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:66083138G>C	ENST00000311330.3	-	1	1377	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	454	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						ATGCGTGGCAGAGACCACCAC	0.667																																						uc001ohm.1		NA																	0				large_intestine(3)	3						c.(1360-1362)TCT>TGT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						103.0	97.0	99.0					11																	66083138		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083138G>C	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1361C>G	11.37:g.66083138G>C	ENSP00000308117:p.Ser454Cys						p.S454C	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1378	-			454			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1361C>G	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031631	0.35797	.	.	ENSG00000174807	ENST00000311330	D	0.90004	-2.6	4.32	3.4	0.38934	.	0.815758	0.10492	N	0.668325	D	0.84538	0.5494	L	0.27053	0.805	0.27774	N	0.943408	D	0.58620	0.983	P	0.46975	0.533	T	0.75935	-0.3142	10	0.59425	D	0.04	-8.9654	9.9207	0.41462	0.1013:0.0:0.8987:0.0	.	454	Q9HCU0	CD248_HUMAN	C	454	ENSP00000308117:S454C	ENSP00000308117:S454C	S	-	2	0	CD248	65839714	0.986000	0.35501	0.912000	0.35992	0.371000	0.29859	3.195000	0.51013	1.172000	0.42781	0.455000	0.32223	TCT		0.667	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		7	106	0	0	0	0	7	106				
RSF1	51773	broad.mit.edu	37	11	77412118	77412118	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412118G>A	ENST00000308488.6	-	6	2458	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	RSF1_ENST00000480887.1_Missense_Mutation_p.S467L|RSF1_ENST00000360355.2_Missense_Mutation_p.S688L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	719					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTATTTTCTGAGGCAGTGGT	0.428																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2155-2157)TCA>TTA		remodeling and spacing factor 1							92.0	95.0	94.0					11																	77412118		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412118G>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2156C>T	11.37:g.77412118G>A	ENSP00000311513:p.Ser719Leu					RSF1_uc001oym.2_Missense_Mutation_p.S467L	p.S719L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2276	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		719					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.2156C>T	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881842	0.51908	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	D;D;D;D	0.86030	-2.02;-2.03;-2.02;-2.06	5.76	5.76	0.90799	.	1.024170	0.07795	N	0.955602	D	0.82462	0.5042	L	0.27053	0.805	0.50813	D	0.99989	B	0.17038	0.02	B	0.16722	0.016	T	0.66586	-0.5886	10	0.87932	D	0	-1.1041	19.57	0.95407	0.0:0.0:1.0:0.0	.	719	Q96T23	RSF1_HUMAN	L	719;467;688;520	ENSP00000311513:S719L;ENSP00000434509:S467L;ENSP00000353511:S688L;ENSP00000432022:S520L	ENSP00000311513:S719L	S	-	2	0	RSF1	77089766	0.998000	0.40836	0.991000	0.47740	0.927000	0.56198	2.643000	0.46604	2.726000	0.93360	0.655000	0.94253	TCA		0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		6	110	0	0	0	0	6	110				
RSF1	51773	broad.mit.edu	37	11	77412372	77412372	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:77412372G>C	ENST00000308488.6	-	6	2204	c.1902C>G	c.(1900-1902)atC>atG	p.I634M	RSF1_ENST00000480887.1_Missense_Mutation_p.I382M|RSF1_ENST00000360355.2_Missense_Mutation_p.I603M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	634					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTGGTCAATGATATTAGATG	0.428																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1900-1902)ATC>ATG		remodeling and spacing factor 1							109.0	114.0	112.0					11																	77412372		2196	4287	6483	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412372G>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1902C>G	11.37:g.77412372G>C	ENSP00000311513:p.Ile634Met					RSF1_uc001oym.2_Missense_Mutation_p.I382M	p.I634M	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2022	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		634					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1902C>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.833824	0.00579	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.84730	-1.89;-1.89;-1.89;-1.88;1.54	5.23	2.07	0.26955	.	0.843994	0.10721	N	0.641684	T	0.63271	0.2497	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52472	-0.8571	10	0.31617	T	0.26	0.3239	3.7946	0.08734	0.2356:0.3206:0.362:0.0818	.	634	Q96T23	RSF1_HUMAN	M	634;382;603;435;633	ENSP00000311513:I634M;ENSP00000434509:I382M;ENSP00000353511:I603M;ENSP00000432022:I435M;ENSP00000436408:I633M	ENSP00000311513:I634M	I	-	3	3	RSF1	77090020	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	-0.035000	0.12205	0.763000	0.33175	-0.133000	0.14855	ATC		0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		8	106	0	0	0	0	8	106				
MMP12	4321	broad.mit.edu	37	11	102734890	102734890	+	RNA	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:102734890G>C	ENST00000532855.1	-	0	1394							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTTTAGAGTAGAAGACTGCAT	0.383																																						uc001phk.2		NA																	0					0						c.(1297-1299)TTC>TTG		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						113.0	106.0	108.0					11																	102734890		1857	4087	5944			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102734890G>C	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102734890G>C							p.F433L	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	10	1344	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	433			Hemopexin-like 4.		B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.1299C>G																																																																																					0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	38	0	0	0	0	3	38				
KMT2A	4297	broad.mit.edu	37	11	118374023	118374023	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:118374023G>C	ENST00000389506.5	+	27	7407	c.7407G>C	c.(7405-7407)ttG>ttC	p.L2469F	KMT2A_ENST00000534358.1_Missense_Mutation_p.L2472F|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2431F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2469					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ATGAGGTTTTGACTCCTGAGT	0.433																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7405-7407)TTG>TTC		myeloid/lymphoid or mixed-lineage leukemia							79.0	79.0	79.0					11																	118374023		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374023G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7407G>C	11.37:g.118374023G>C	ENSP00000374157:p.Leu2469Phe					MLL_uc001ptb.2_Missense_Mutation_p.L2472F	p.L2469F	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7430	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2469					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7407G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489829	0.26686	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83992	-1.79;-1.79;-1.75	5.85	4.94	0.65067	.	0.307287	0.32533	N	0.005974	T	0.72011	0.3408	N	0.19112	0.55	0.32042	N	0.598101	P;P	0.51933	0.949;0.949	B;B	0.42319	0.383;0.383	T	0.78033	-0.2362	10	0.54805	T	0.06	.	11.2271	0.48890	0.0685:0.1278:0.8037:0.0	.	2472;2469	E9PQG7;Q03164	.;MLL1_HUMAN	F	2472;2469;2431;1379	ENSP00000436786:L2472F;ENSP00000374157:L2469F;ENSP00000346516:L2431F	ENSP00000346516:L2431F	L	+	3	2	MLL	117879233	0.998000	0.40836	0.995000	0.50966	0.568000	0.35870	2.376000	0.44292	1.486000	0.48398	-0.136000	0.14681	TTG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	68	0	0	0	0	5	68				
KMT2A	4297	broad.mit.edu	37	11	118374030	118374030	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:118374030G>A	ENST00000389506.5	+	27	7414	c.7414G>A	c.(7414-7416)Gag>Aag	p.E2472K	KMT2A_ENST00000534358.1_Missense_Mutation_p.E2475K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E2434K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2472					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTGACTCCTGAGTATATGGG	0.438																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7414-7416)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia							78.0	78.0	78.0					11																	118374030		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374030G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7414G>A	11.37:g.118374030G>A	ENSP00000374157:p.Glu2472Lys					MLL_uc001ptb.2_Missense_Mutation_p.E2475K	p.E2472K	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7437	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2472					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7414G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854089	0.32791	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83591	-1.74;-1.74;-1.7	5.85	5.85	0.93711	.	0.351563	0.35739	N	0.003009	T	0.73613	0.3609	N	0.19112	0.55	0.39810	D	0.972682	B;B	0.27559	0.181;0.181	B;B	0.23275	0.045;0.045	T	0.68834	-0.5304	10	0.20046	T	0.44	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2475;2472	E9PQG7;Q03164	.;MLL1_HUMAN	K	2475;2472;2434;1382	ENSP00000436786:E2475K;ENSP00000374157:E2472K;ENSP00000346516:E2434K	ENSP00000346516:E2434K	E	+	1	0	MLL	117879240	1.000000	0.71417	0.978000	0.43139	0.552000	0.35366	6.778000	0.75043	2.767000	0.95098	0.655000	0.94253	GAG		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	67	0	0	0	0	5	67				
Unknown	0	broad.mit.edu	37	11	124095773	124095773	+	IGR	SNP	C	C	T	rs370954054		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr11:124095773C>T								OR10D3 (38821 upstream) : OR8G1 (24649 downstream)																							TGCAGAGTGTCACATGTTGGC	0.458																																						uc010saf.1		NA																	0					0						c.(376-378)CAC>TAC		olfactory receptor, family 8, subfamily G,		C	TYR/HIS	1,4317	2.1+/-5.4	0,1,2158	204.0	198.0	200.0		376	-0.5	0.9	11		200	0,8580		0,0,4290	no	missense	OR8G2	NM_001007249.1	83	0,1,6448	TT,TC,CC		0.0,0.0232,0.0078	benign	126/305	124095773	1,12897	2159	4290	6449	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095773C>T																													11.37:g.124095773C>T							p.H126Y	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	376	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	126						Missense_Mutation	SNP		37	c.376C>T																																																																																				0	0.458									18	198	0	0	0	0	18	198				
SLCO1C1	53919	broad.mit.edu	37	12	20876121	20876121	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:20876121G>A	ENST00000266509.2	+	9	1487	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	SLCO1C1_ENST00000545102.1_Silent_p.V255V|SLCO1C1_ENST00000545604.1_Silent_p.V373V|SLCO1C1_ENST00000381552.1_Silent_p.V373V|SLCO1C1_ENST00000540354.1_Silent_p.V324V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	373					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCGGCATGGTGACGTACAAAC	0.423																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1117-1119)GTG>GTA		solute carrier organic anion transporter family,							201.0	175.0	184.0					12																	20876121		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876121G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1119G>A	12.37:g.20876121G>A						SLCO1C1_uc010sii.1_Silent_p.V373V|SLCO1C1_uc010sij.1_Silent_p.V324V|SLCO1C1_uc009zip.2_Silent_p.V207V|SLCO1C1_uc001rei.2_Silent_p.V373V|SLCO1C1_uc010sik.1_Silent_p.V255V	p.V373V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1474	+	Esophageal squamous(101;0.149)		373			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1119G>A	CCDS8683.1																																																																																				0.423	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		7	81	0	0	0	0	7	81				
KIAA1551	55196	broad.mit.edu	37	12	32135621	32135621	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:32135621C>G	ENST00000312561.4	+	4	2146	c.1732C>G	c.(1732-1734)Caa>Gaa	p.Q578E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	578																	ATCAAAAATTCAAAATGAAAA	0.348																																						uc001rks.2		NA																	0				ovary(1)|skin(1)	2						c.(1732-1734)CAA>GAA		hypothetical protein LOC55196							39.0	41.0	41.0					12																	32135621		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32135621C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1732C>G	12.37:g.32135621C>G	ENSP00000310338:p.Gln578Glu						p.Q578E	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2146	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		578					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1732C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.399079	0.01165	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.04862	4.16;3.54	4.03	1.04	0.20106	.	.	.	.	.	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.17979	0.02	T	0.47560	-0.9108	8	.	.	.	.	3.425	0.07408	0.4392:0.3495:0.0:0.2113	.	578	Q9HCM1	CL035_HUMAN	E	578	ENSP00000310338:Q578E;ENSP00000370442:Q578E	.	Q	+	1	0	C12orf35	32026888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.165000	0.09968	0.166000	0.19597	-0.253000	0.11424	CAA		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	31	0	0	0	0	5	31				
NCKAP1L	3071	broad.mit.edu	37	12	54910753	54910753	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:54910753G>A	ENST00000293373.6	+	11	1151	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E308K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	358					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTTGGCTGATGAACCGGGACT	0.507																																						uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1072-1074)GAA>AAA		NCK-associated protein 1-like							137.0	127.0	131.0					12																	54910753		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54910753G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1072G>A	12.37:g.54910753G>A	ENSP00000293373:p.Glu358Lys					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.E308K	p.E358K	NM_005337	NP_005328	P55160	NCKPL_HUMAN			11	1151	+			358					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1072G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860666	0.71834	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30182	1.54;1.54	5.07	5.07	0.68467	.	0.051494	0.85682	D	0.000000	T	0.31544	0.0800	L	0.43152	1.355	0.46654	D	0.999147	P	0.47409	0.895	B	0.43623	0.425	T	0.04551	-1.0943	10	0.44086	T	0.13	-7.3846	16.3028	0.82831	0.0:0.0:1.0:0.0	.	358	P55160	NCKPL_HUMAN	K	358;308	ENSP00000293373:E358K;ENSP00000445596:E308K	ENSP00000293373:E358K	E	+	1	0	NCKAP1L	53197020	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.609000	0.46317	2.507000	0.84556	0.591000	0.81541	GAA		0.507	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		9	88	0	0	0	0	9	88				
TRHDE	29953	broad.mit.edu	37	12	72667122	72667122	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:72667122G>A	ENST00000261180.4	+	1	660	c.564G>A	c.(562-564)gcG>gcA	p.A188A	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	188					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCGAGTGGCGGTGGAGAAAG	0.627																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(562-564)GCG>GCA		thyrotropin-releasing hormone degrading enzyme							48.0	52.0	51.0					12																	72667122		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667122G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.564G>A	12.37:g.72667122G>A						LOC283392_uc010stv.1_5'UTR	p.A188A	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	594	+			188			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.564G>A	CCDS9004.1																																																																																				0.627	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		10	65	0	0	0	0	10	65				
SLC5A8	160728	broad.mit.edu	37	12	101555757	101555757	+	Missense_Mutation	SNP	G	G	A	rs142965122		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:101555757G>A	ENST00000536262.2	-	13	2183	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTACCTGTTGATAAACTGAC	0.313																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(1624-1626)TCA>TTA		solute carrier family 5 (iodide transporter),							157.0	161.0	160.0					12																	101555757		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555757G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1625C>T	12.37:g.101555757G>A	ENSP00000445340:p.Ser542Leu						p.S542L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			13	2015	-			542			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1625C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281882	0.01398	.	.	ENSG00000256870	ENST00000536262	T	0.50277	0.75	5.5	0.899	0.19271	.	1.099360	0.06783	N	0.785630	T	0.15696	0.0378	N	0.00815	-1.16	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	10	0.02654	T	1	.	8.413	0.32655	0.5348:0.0:0.4651:0.0	.	542	Q8N695	SC5A8_HUMAN	L	542	ENSP00000445340:S542L	ENSP00000445340:S542L	S	-	2	0	SLC5A8	100079888	0.018000	0.18449	0.597000	0.28824	0.407000	0.30961	0.383000	0.20651	0.256000	0.21614	-0.225000	0.12378	TCA		0.313	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		6	178	0	0	0	0	6	178				
ASCL1	429	broad.mit.edu	37	12	103352547	103352547	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:103352547C>T	ENST00000266744.3	+	1	1084	c.525C>T	c.(523-525)gaC>gaT	p.D175D		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	175					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						AGCTGCTGGACGAGCATGACG	0.662																																						uc001tjr.3		NA																	0					0						c.(523-525)GAC>GAT		achaete-scute complex homolog 1							38.0	37.0	37.0					12																	103352547		2203	4300	6503	SO:0001819	synonymous_variant	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352547C>T	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.525C>T	12.37:g.103352547C>T							p.D175D	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	1096	+			175					A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	c.525C>T	CCDS31886.1																																																																																				0.662	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			11	45	0	0	0	0	11	45				
GCN1L1	10985	broad.mit.edu	37	12	120572483	120572483	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:120572483G>A	ENST00000300648.6	-	52	7068	c.7056C>T	c.(7054-7056)ttC>ttT	p.F2352F		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2352					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCTTTGGTGAAAGTGGTCT	0.582																																						uc001txo.2		NA																	0				ovary(4)	4						c.(7054-7056)TTC>TTT		GCN1 general control of amino-acid synthesis							67.0	75.0	73.0					12																	120572483		1941	4151	6092	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120572483G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7056C>T	12.37:g.120572483G>A							p.F2352F	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			52	7069	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2352			HEAT 21.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7056C>T	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			8	69	0	0	0	0	8	69				
ACADS	35	broad.mit.edu	37	12	121164932	121164932	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr12:121164932G>A	ENST00000242592.4	+	2	301	c.150G>A	c.(148-150)gaG>gaA	p.E50E	ACADS_ENST00000411593.2_Silent_p.E50E	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	50					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	ACTTTGCCGAGAAGGAGTTGT	0.572																																						uc001tza.3		NA																	0				central_nervous_system(2)	2						c.(148-150)GAG>GAA		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						208.0	191.0	197.0					12																	121164932		2203	4300	6503	SO:0001819	synonymous_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121164932G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.150G>A	12.37:g.121164932G>A						ACADS_uc010szl.1_Silent_p.E50E	p.E50E	NM_000017	NP_000008	P16219	ACADS_HUMAN			2	268	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	50					P78331	Silent	SNP	ENST00000242592.4	37	c.150G>A	CCDS9207.1																																																																																				0.572	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		11	184	0	0	0	0	11	184				
CPB2	1361	broad.mit.edu	37	13	46656636	46656636	+	Silent	SNP	G	G	A	rs374137399		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:46656636G>A	ENST00000181383.4	-	4	340	c.324C>T	c.(322-324)aaC>aaT	p.N108N	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Silent_p.N108N|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	108					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TGACTGTGTCGTTGGAAATCT	0.453																																						uc001vaw.2		NA																	0				ovary(1)|skin(1)	2						c.(322-324)AAC>AAT		plasma carboxypeptidase B2 isoform a		G	,	0,4406		0,0,2203	171.0	155.0	160.0		324,324	-11.3	0.0	13		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CPB2	NM_001872.3,NM_016413.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	108/424,108/361	46656636	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46656636G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.324C>T	13.37:g.46656636G>A						uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.N108N	p.N108N	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	4	391	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	108					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.324C>T	CCDS9401.1																																																																																				0.453	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		7	109	0	0	0	0	7	109				
RB1	5925	broad.mit.edu	37	13	49033886	49033886	+	Missense_Mutation	SNP	G	G	C	rs137853295		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr13:49033886G>C	ENST00000267163.4	+	20	2161	c.2023G>C	c.(2023-2025)Gaa>Caa	p.E675Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	675	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAGCACCCAGAATTAGAACA	0.423		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM920604	RB1	M	rs137853295	c.(2023-2025)GAA>CAA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						113.0	110.0	111.0					13																	49033886		2203	4300	6503	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033886G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2023G>C	13.37:g.49033886G>C	ENSP00000267163:p.Glu675Gln	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E675Q	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2189	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	675			Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2023G>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340062	0.95783	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91124	-2.79	5.7	5.7	0.88788	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.183316	0.47093	D	0.000258	D	0.94311	0.8172	M	0.70595	2.14	0.58432	D	0.999999	D	0.65815	0.995	P	0.58620	0.842	D	0.94364	0.7590	10	0.72032	D	0.01	-20.9984	19.8339	0.96646	0.0:0.0:1.0:0.0	.	675	P06400	RB_HUMAN	Q	654;675	ENSP00000267163:E675Q	ENSP00000267163:E675Q	E	+	1	0	RB1	47931887	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.698000	0.92095	0.585000	0.79938	GAA		0.423	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			6	87	0	0	0	0	6	87				
OR4M1	441670	broad.mit.edu	37	14	20248859	20248859	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:20248859C>T	ENST00000315957.4	+	1	459	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	126						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(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTGCTATCTGCCGACCCC	0.507																																						uc010tku.1		NA																	0					0						c.(376-378)ATC>ATT		olfactory receptor, family 4, subfamily M,							243.0	253.0	249.0					14																	20248859		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248859C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.378C>T	14.37:g.20248859C>T							p.I126I	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	378	+	all_cancers(95;0.00108)		126			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.378C>T	CCDS32021.1																																																																																				0.507	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			19	512	0	0	0	0	19	512				
ARHGAP5	394	broad.mit.edu	37	14	32561983	32561983	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:32561983A>G	ENST00000345122.3	+	2	2423	c.2108A>G	c.(2107-2109)cAg>cGg	p.Q703R	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q703R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q703R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	703					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGGCTAATCAGAGAGATTCC	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2107-2109)CAG>CGG		Rho GTPase activating protein 5 isoform b							57.0	56.0	57.0					14																	32561983		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561983A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2108A>G	14.37:g.32561983A>G	ENSP00000371897:p.Gln703Arg					ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q703R|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q703R|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.Q703R	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2347	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		703					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2108A>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918360	0.33908	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.28274	0.84	0.80722	D	1	B;B	0.19706	0.038;0.023	B;B	0.23018	0.043;0.019	T	0.31943	-0.9925	10	0.27082	T	0.32	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	703;703	Q13017-2;Q13017	.;RHG05_HUMAN	R	703	ENSP00000452222:Q703R;ENSP00000441692:Q703R;ENSP00000371897:Q703R;ENSP00000393307:Q703R	ENSP00000371897:Q703R	Q	+	2	0	ARHGAP5	31631734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.526000	0.81920	2.219000	0.72066	0.528000	0.53228	CAG		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		4	49	0	0	0	0	4	49				
MIPOL1	145282	broad.mit.edu	37	14	37777588	37777588	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:37777588C>G	ENST00000327441.7	+	10	1158	c.692C>G	c.(691-693)gCa>gGa	p.A231G	MIPOL1_ENST00000536774.1_Missense_Mutation_p.A50G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.A200G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.A231G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.A231G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.A200G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.A200G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	231						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATAAACAATGCAGACACAGGG	0.313																																						uc001wuc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(691-693)GCA>GGA		mirror-image polydactyly 1							112.0	118.0	116.0					14																	37777588		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37777588C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.692C>G	14.37:g.37777588C>G	ENSP00000333539:p.Ala231Gly					MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.A200G|MIPOL1_uc001wud.2_Missense_Mutation_p.A231G|MIPOL1_uc010ams.2_Missense_Mutation_p.A231G|MIPOL1_uc001wue.2_Missense_Mutation_p.A200G|MIPOL1_uc010amt.2_Missense_Mutation_p.A50G	p.A231G	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	10	1195	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		231					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.692C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644224	0.67244	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.59502	0.28;0.3;0.26;0.28;0.28;0.26	5.65	5.65	0.86999	.	0.051240	0.85682	D	0.000000	T	0.77624	0.4158	M	0.75777	2.31	0.47905	D	0.999548	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78553	-0.2160	10	0.62326	D	0.03	-10.4701	19.7072	0.96079	0.0:1.0:0.0:0.0	.	231;200	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	231;50;200;200;231;231;200	ENSP00000333539:A231G;ENSP00000438319:A200G;ENSP00000450479:A200G;ENSP00000379589:A231G;ENSP00000444254:A231G;ENSP00000442529:A200G	ENSP00000333539:A231G	A	+	2	0	MIPOL1	36847339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.662000	0.90505	0.591000	0.81541	GCA		0.313	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		5	128	0	0	0	0	5	128				
ESR2	2100	broad.mit.edu	37	14	64716327	64716327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:64716327G>A	ENST00000341099.4	-	7	1579	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ESR2_ENST00000353772.3_Nonsense_Mutation_p.R388*|ESR2_ENST00000555278.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000554572.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000557772.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000553796.1_Nonsense_Mutation_p.R388*|ESR2_ENST00000357782.2_Nonsense_Mutation_p.R388*|ESR2_ENST00000358599.5_Nonsense_Mutation_p.R388*|ESR2_ENST00000542956.1_Nonsense_Mutation_p.R388*	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	388	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTTAACTCTCGAAACCTTGAA	0.423																																						uc001xha.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1162-1164)CGA>TGA		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						150.0	136.0	141.0					14																	64716327		2203	4300	6503	SO:0001587	stop_gained	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64716327G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1162C>T	14.37:g.64716327G>A	ENSP00000343925:p.Arg388*					ESR2_uc001xgu.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgv.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgy.1_Nonsense_Mutation_p.R388*|ESR2_uc001xgz.1_Nonsense_Mutation_p.R388*|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_Intron	p.R388*	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	7	1630	-			388			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Nonsense_Mutation	SNP	ENST00000341099.4	37	c.1162C>T	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	42	9.532054	0.99196	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	.	.	.	X	388	.	ENSP00000343925:R388X	R	-	1	2	ESR2	63786080	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.098000	0.57748	2.805000	0.96524	0.655000	0.94253	CGA		0.423	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			10	62	0	0	0	0	10	62				
SPTB	6710	broad.mit.edu	37	14	65234494	65234494	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:65234494C>G	ENST00000389721.5	-	29	6138	c.6106G>C	c.(6106-6108)Gac>Cac	p.D2036H	SPTB_ENST00000556626.1_Missense_Mutation_p.D2036H|SPTB_ENST00000542895.1_Missense_Mutation_p.D2036H|SPTB_ENST00000389722.3_Missense_Mutation_p.D2036H|SPTB_ENST00000389720.3_Missense_Mutation_p.D2036H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2036					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCCAAAGTCCCCGCTGGCC	0.617																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6106-6108)GAC>CAC		spectrin beta isoform b							116.0	92.0	100.0					14																	65234494		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65234494C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6106G>C	14.37:g.65234494C>G	ENSP00000374371:p.Asp2036His					SPTB_uc001xhr.2_Missense_Mutation_p.D2036H|SPTB_uc001xhs.2_Missense_Mutation_p.D2036H|SPTB_uc001xhu.2_Missense_Mutation_p.D2036H|SPTB_uc010aqi.2_Missense_Mutation_p.D697H	p.D2036H	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	29	6160	-		all_lung(585;4.15e-09)	2036			Spectrin 17.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6106G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643804	0.87859	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.14	5.14	0.70334	.	0.048548	0.85682	D	0.000000	D	0.82655	0.5084	M	0.78801	2.425	0.80722	D	1	D;P;P	0.64830	0.994;0.757;0.476	P;P;B	0.59595	0.86;0.578;0.17	D	0.85241	0.1038	10	0.87932	D	0	.	17.736	0.88392	0.0:1.0:0.0:0.0	.	820;2036;2040	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	H	2040;2036;820;701;2036;2036;2036;2036	ENSP00000374372:D2036H;ENSP00000451324:D701H;ENSP00000451752:D2036H;ENSP00000374371:D2036H;ENSP00000443882:D2036H;ENSP00000374370:D2036H	ENSP00000334218:D820H	D	-	1	0	SPTB	64304247	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.742000	0.85008	2.550000	0.86006	0.462000	0.41574	GAC		0.617	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	74	0	0	0	0	4	74				
FLRT2	23768	broad.mit.edu	37	14	86088748	86088748	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr14:86088748A>G	ENST00000330753.4	+	2	1657	c.890A>G	c.(889-891)gAt>gGt	p.D297G	FLRT2_ENST00000554746.1_Missense_Mutation_p.D297G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	297					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGTTTTTGATAATCTCTCC	0.443																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(889-891)GAT>GGT		fibronectin leucine rich transmembrane protein 2							168.0	177.0	174.0					14																	86088748		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088748A>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.890A>G	14.37:g.86088748A>G	ENSP00000332879:p.Asp297Gly					FLRT2_uc010atd.2_Missense_Mutation_p.D297G	p.D297G	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1657	+			297			Extracellular (Potential).|LRR 10.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.890A>G	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750376	0.69533	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.58358	0.34;0.34	5.97	5.97	0.96955	.	0.048069	0.85682	D	0.000000	T	0.46367	0.1389	N	0.13299	0.325	0.80722	D	1	P	0.48089	0.905	P	0.48873	0.593	T	0.47497	-0.9113	10	0.41790	T	0.15	-19.3382	16.4473	0.83942	1.0:0.0:0.0:0.0	.	297	O43155	FLRT2_HUMAN	G	297	ENSP00000332879:D297G;ENSP00000451050:D297G	ENSP00000332879:D297G	D	+	2	0	FLRT2	85158501	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.338000	0.96553	2.281000	0.76405	0.533000	0.62120	GAT		0.443	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			21	234	0	0	0	0	21	234				
TTBK2	146057	broad.mit.edu	37	15	43122171	43122171	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:43122171G>A	ENST00000267890.6	-	5	505	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	TTBK2_ENST00000567840.1_Missense_Mutation_p.H133Y|TTBK2_ENST00000567274.1_Missense_Mutation_p.H133Y	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCCACAGAATGAATGCTTTCA	0.458																																						uc001zqo.2		NA																	0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(397-399)CAT>TAT		tau tubulin kinase 2							119.0	112.0	114.0					15																	43122171		1905	4142	6047	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43122171G>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.397C>T	15.37:g.43122171G>A	ENSP00000267890:p.His133Tyr					TTBK2_uc010bcy.2_Missense_Mutation_p.H64Y|TTBK2_uc001zqp.2_Missense_Mutation_p.H133Y|TTBK2_uc010bcz.1_Missense_Mutation_p.H133Y	p.H133Y	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	5	836	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	133			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.397C>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342222	0.95783	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	D	0.83755	-1.76	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	H	0.98276	4.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.96554	0.9410	10	0.87932	D	0	.	20.2405	0.98372	0.0:0.0:1.0:0.0	.	113;64;133;133	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	Y	133;63;113	ENSP00000267890:H133Y	ENSP00000263802:H113Y	H	-	1	0	TTBK2	40909463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.797000	0.96272	0.561000	0.74099	CAT		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		5	49	0	0	0	0	5	49				
SIN3A	25942	broad.mit.edu	37	15	75668128	75668128	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:75668128C>G	ENST00000394947.3	-	20	3783	c.3469G>C	c.(3469-3471)Gag>Cag	p.E1157Q	SIN3A_ENST00000394949.4_Missense_Mutation_p.E1157Q|SIN3A_ENST00000360439.4_Missense_Mutation_p.E1157Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCACATTCTCCATGGTCTTC	0.463																																						uc002bai.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(3469-3471)GAG>CAG		transcriptional co-repressor Sin3A							254.0	216.0	229.0					15																	75668128		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75668128C>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3469G>C	15.37:g.75668128C>G	ENSP00000378402:p.Glu1157Gln					SIN3A_uc002baj.2_Missense_Mutation_p.E1157Q|SIN3A_uc010uml.1_Missense_Mutation_p.E1157Q	p.E1157Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			20	3728	-			1157						Missense_Mutation	SNP	ENST00000394947.3	37	c.3469G>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805514	0.50315	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48522	0.81;0.81;0.81	5.21	5.21	0.72293	.	0.105550	0.64402	D	0.000003	T	0.42944	0.1225	L	0.37630	1.12	0.80722	D	1	B	0.34103	0.437	B	0.37015	0.239	T	0.25676	-1.0125	10	0.28530	T	0.3	-23.9407	17.7403	0.88405	0.0:1.0:0.0:0.0	.	1157	Q96ST3	SIN3A_HUMAN	Q	1157	ENSP00000378402:E1157Q;ENSP00000378403:E1157Q;ENSP00000353622:E1157Q	ENSP00000353622:E1157Q	E	-	1	0	SIN3A	73455181	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.051000	0.71072	2.446000	0.82766	0.655000	0.94253	GAG		0.463	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		6	131	0	0	0	0	6	131				
ADAMTS17	170691	broad.mit.edu	37	15	100594257	100594257	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr15:100594257G>C	ENST00000268070.4	-	16	2245	c.2140C>G	c.(2140-2142)Ctc>Gtc	p.L714V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	714	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GAGTCTTTGAGAGCTAGAAAG	0.537																																						uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2140-2142)CTC>GTC		ADAM metallopeptidase with thrombospondin type 1							91.0	96.0	95.0					15																	100594257		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100594257G>C	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2140C>G	15.37:g.100594257G>C	ENSP00000268070:p.Leu714Val						p.L714V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2219	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		714			Spacer.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2140C>G	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838078	0.50951	.	.	ENSG00000140470	ENST00000268070	T	0.58940	0.3	5.97	5.97	0.96955	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000017	T	0.48926	0.1527	N	0.25825	0.765	0.58432	D	0.999999	P	0.42296	0.775	P	0.46758	0.526	T	0.34129	-0.9841	10	0.17369	T	0.5	.	11.3331	0.49487	0.1088:0.0:0.8912:0.0	.	714	Q8TE56	ATS17_HUMAN	V	714	ENSP00000268070:L714V	ENSP00000268070:L714V	L	-	1	0	ADAMTS17	98411780	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.653000	0.46691	2.831000	0.97527	0.655000	0.94253	CTC		0.537	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		11	126	0	0	0	0	11	126				
MEIOB	254528	broad.mit.edu	37	16	1891862	1891862	+	Silent	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:1891862G>C	ENST00000397344.3	-	11	1187	c.993C>G	c.(991-993)ctC>ctG	p.L331L	MEIOB_ENST00000452149.2_Silent_p.L331L|MEIOB_ENST00000412554.2_Silent_p.L331L|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000325962.3_Silent_p.L331L|MEIOB_ENST00000470044.1_Silent_p.L124L	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	331					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										CATCAATGTTGAGTGTGGAAA	0.328																																						uc002cne.2		NA																	0					0						c.(991-993)CTC>CTG		hypothetical protein LOC254528 isoform 2							139.0	113.0	122.0					16																	1891862		2199	4300	6499	SO:0001819	synonymous_variant	254528				meiosis	cytoplasm		g.chr16:1891862G>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.993C>G	16.37:g.1891862G>C						C16orf73_uc010uvq.1_Silent_p.L331L|C16orf73_uc010uvr.1_Silent_p.L124L	p.L331L	NM_152764	NP_689977	Q8N635	CP073_HUMAN			11	1111	-			331					B1AK39|C9J0S1|Q96RY0	Silent	SNP	ENST00000397344.3	37	c.993C>G	CCDS10449.2																																																																																				0.328	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		4	37	0	0	0	0	4	37				
CCNF	899	broad.mit.edu	37	16	2495573	2495573	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:2495573G>A	ENST00000397066.4	+	10	1132	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	348	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGCTGGTGCCGCGGTACAGGC	0.652																																						uc002cqd.1		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(1042-1044)CCG>CCA		cyclin F							74.0	52.0	59.0					16																	2495573		2198	4300	6498	SO:0001819	synonymous_variant	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2495573G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1044G>A	16.37:g.2495573G>A						CCNF_uc002cqe.1_Silent_p.P40P	p.P348P	NM_001761	NP_001752	P41002	CCNF_HUMAN			10	1132	+		Ovarian(90;0.17)	348			Cyclin N-terminal.		B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	c.1044G>A	CCDS10467.1																																																																																				0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	51	0	0	0	0	5	51				
SMG1	23049	broad.mit.edu	37	16	18827770	18827770	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:18827770G>C	ENST00000446231.2	-	58	10568	c.10156C>G	c.(10156-10158)Cag>Gag	p.Q3386E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3387E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3386					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTGCCCTCTGAGTAGACATA	0.413																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10156-10158)CAG>GAG		PI-3-kinase-related kinase SMG-1							111.0	105.0	107.0					16																	18827770		1911	4130	6041	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18827770G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10156C>G	16.37:g.18827770G>C	ENSP00000402515:p.Gln3386Glu					SMG1_uc010bwb.2_Missense_Mutation_p.Q3246E|SMG1_uc010bwa.2_Missense_Mutation_p.Q2117E	p.Q3386E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			58	10519	-			3386					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10156C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196335	0.58126	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01092	5.35;5.35	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.01124	0.0037	N	0.14661	0.345	0.33173	D	0.54852	B	0.02656	0.0	B	0.06405	0.002	T	0.50964	-0.8765	10	0.07030	T	0.85	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3386	Q96Q15	SMG1_HUMAN	E	3386;3387	ENSP00000402515:Q3386E;ENSP00000374118:Q3387E	ENSP00000374118:Q3387E	Q	-	1	0	SMG1	18735271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.845000	0.75394	2.941000	0.99782	0.655000	0.94253	CAG		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	61	0	0	0	0	4	61				
ARHGAP17	55114	broad.mit.edu	37	16	24955123	24955123	+	Silent	SNP	G	G	A	rs183560520		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:24955123G>A	ENST00000289968.6	-	15	1371	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ARHGAP17_ENST00000303665.5_Silent_p.I434I|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	434	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CATGCTGAATGATGGGTTCAA	0.428																																						uc002dnb.2		NA																	0					0						c.(1300-1302)ATC>ATT		nadrin isoform 1							122.0	100.0	107.0					16																	24955123		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24955123G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1302C>T	16.37:g.24955123G>A						ARHGAP17_uc002dna.2_Silent_p.I161I|ARHGAP17_uc002dnc.2_Silent_p.I434I|ARHGAP17_uc010vcf.1_Silent_p.I255I	p.I434I	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	15	1395	-			434			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.1302C>T	CCDS32409.1																																																																																				0.428	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		6	74	0	0	0	0	6	74				
C16orf93	90835	broad.mit.edu	37	16	30771928	30771928	+	Splice_Site	SNP	C	C	G	rs200933996	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:30771928C>G	ENST00000543610.1	-	3	1259	c.298G>C	c.(298-300)Gag>Cag	p.E100Q	RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000545825.1_Splice_Site_p.E100Q|PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000357890.5_5'Flank|C16orf93_ENST00000541260.1_Splice_Site_p.E100Q|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000563683.1_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	100										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGTCCCTACTCCCTCATCTCA	0.522													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20406	0.0		0.001	False		,,,				2504	0.0					uc002dzm.2		NA																	0					0						c.(298-300)GAG>CAG		hypothetical protein LOC90835		C	,GLN/GLU,,GLN/GLU	1,4381		0,1,2190	67.0	61.0	63.0		,298,,298	-1.2	0.7	16		63	1,8573		0,1,4286	yes	utr-3,missense-near-splice,utr-3,missense-near-splice	PHKG2,C16orf93	NM_000294.2,NM_001014979.2,NM_001172432.1,NM_001195620.1	,29,,29	0,2,6476	GG,GC,CC		0.0117,0.0228,0.0154	,benign,,benign	,100/332,,100/178	30771928	2,12954	2191	4287	6478	SO:0001630	splice_region_variant	90835							g.chr16:30771928C>G	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.299+1G>C	16.37:g.30771928C>G						C16orf93_uc002dzn.2_Missense_Mutation_p.E100Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E63Q|C16orf93_uc002dzp.2_Missense_Mutation_p.E100Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	p.E100Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			3	629	-			100					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.298G>C	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195786	0.22037	2.28E-4	1.17E-4	ENSG00000196118	ENST00000354963;ENST00000543610;ENST00000545825	.	.	.	4.43	-1.2	0.09554	.	0.583334	0.17378	N	0.176405	T	0.21347	0.0514	L	0.44542	1.39	0.22171	N	0.999317	B;B;B	0.33318	0.408;0.0;0.077	B;B;B	0.26094	0.066;0.003;0.046	T	0.23511	-1.0186	9	0.17369	T	0.5	-6.9296	7.4524	0.27246	0.0:0.4503:0.384:0.1657	.	100;63;100	F5GX13;A1A4V9-2;A1A4V9	.;.;CP093_HUMAN	Q	63;100;100	.	ENSP00000347050:E63Q	E	-	1	0	C16orf93	30679429	0.943000	0.32029	0.739000	0.30968	0.658000	0.38924	-0.091000	0.11146	-0.726000	0.04895	-2.505000	0.00190	GAG		0.522	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979	Missense_Mutation	2	0	0	0	0	0	2	0				
NUP93	9688	broad.mit.edu	37	16	56839414	56839414	+	Splice_Site	SNP	A	A	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:56839414A>T	ENST00000308159.5	+	5	481		c.e5-1		NUP93_ENST00000542526.1_Splice_Site|NUP93_ENST00000564887.1_Splice_Site|NUP93_ENST00000569842.1_Splice_Site|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCTTTCTGGCAGACCTTCGGC	0.473																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NA																	0				ovary(1)|lung(1)	2						c.e5-2		nucleoporin 93kDa							85.0	80.0	82.0					16																	56839414		2198	4300	6498	SO:0001630	splice_region_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56839414A>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.361-1A>T	16.37:g.56839414A>T						NUP93_uc002ekb.2_Splice_Site|NUP93_uc010vhi.1_Splice_Site	p.T121_splice	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			5	482	+								B3KPQ8|Q14705	Splice_Site	SNP	ENST00000308159.5	37	c.361_splice	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303977	0.81136	.	.	ENSG00000102900	ENST00000308159	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7118	0.69238	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP93	55396915	1.000000	0.71417	0.994000	0.49952	0.870000	0.49936	9.040000	0.93783	1.946000	0.56461	0.459000	0.35465	.		0.473	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	Intron	4	45	0	0	0	0	4	45				
CDH11	1009	broad.mit.edu	37	16	65032553	65032553	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:65032553G>C	ENST00000268603.4	-	4	1050	c.435C>G	c.(433-435)ttC>ttG	p.F145L	CDH11_ENST00000566827.1_Missense_Mutation_p.F19L|CDH11_ENST00000394156.3_Missense_Mutation_p.F145L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	145	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTTGACAATGAATTCCGACG	0.567			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(433-435)TTC>TTG		cadherin 11, type 2 preproprotein							137.0	112.0	120.0					16																	65032553		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032553G>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.435C>G	16.37:g.65032553G>C	ENSP00000268603:p.Phe145Leu	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.F145L|CDH11_uc010vin.1_Missense_Mutation_p.F19L|CDH11_uc010vio.1_Missense_Mutation_p.F145L	p.F145L	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	869	-		Ovarian(137;0.0973)	145			Extracellular (Potential).|Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.435C>G	CCDS10803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080676|4.080676	0.76528|0.76528	.|.	.|.	ENSG00000140937|ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390|ENST00000536902	T;T|.	0.55930|.	0.49;0.49|.	5.77|5.77	2.72|2.72	0.32119|0.32119	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.45538|.	0.1347|.	L|L	0.42581|0.42581	1.335|1.335	0.49213|0.49213	D|D	0.999763|0.999763	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.80764|.	0.986;0.994|.	T|.	0.28618|.	-1.0038|.	10|.	0.87932|0.02654	D|T	0|1	.|.	8.9631|8.9631	0.35860|0.35860	0.2861:0.0:0.7139:0.0|0.2861:0.0:0.7139:0.0	.|.	145;145|.	P55287-2;P55287|.	.;CAD11_HUMAN|.	L|X	145;145;128|139	ENSP00000268603:F145L;ENSP00000377711:F145L|.	ENSP00000268603:F145L|ENSP00000442264:S139X	F|S	-|-	3|2	2|0	CDH11|CDH11	63590054|63590054	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.889000|0.889000	0.51656|0.51656	2.502000|2.502000	0.45398|0.45398	0.439000|0.439000	0.26476|0.26476	-0.136000|-0.136000	0.14681|0.14681	TTC|TCA		0.567	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		3	65	0	0	0	0	3	65				
CDH5	1003	broad.mit.edu	37	16	66423424	66423424	+	Splice_Site	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66423424G>C	ENST00000341529.3	+	5	928	c.780G>C	c.(778-780)caG>caC	p.Q260H	CDH5_ENST00000563425.2_Splice_Site_p.Q260H	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCTTCACCCAGAGTGAGCCCC	0.602																																						uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(778-780)CAG>CAC		cadherin 5, type 2 preproprotein							43.0	44.0	44.0					16																	66423424		2202	4300	6502	SO:0001630	splice_region_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66423424G>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.781+1G>C	16.37:g.66423424G>C						CDH5_uc002eon.1_Missense_Mutation_p.Q260H	p.Q260H	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	5	936	+		Ovarian(137;0.0955)	260			Cadherin 3.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.780G>C	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542735	0.45280	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.39592	1.07	5.69	2.29	0.28610	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.32255	0.0823	L	0.52011	1.625	0.80722	D	1	B	0.24618	0.107	B	0.23419	0.046	T	0.17837	-1.0356	9	0.51188	T	0.08	.	4.0837	0.09937	0.3887:0.187:0.4244:0.0	.	260	P33151	CADH5_HUMAN	H	260	ENSP00000344115:Q260H	ENSP00000344115:Q260H	Q	+	3	2	CDH5	64980925	0.161000	0.22892	0.915000	0.36163	0.997000	0.91878	0.886000	0.28241	0.741000	0.32674	0.655000	0.94253	CAG		0.602	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Missense_Mutation	3	40	0	0	0	0	3	40				
DYNC1LI2	1783	broad.mit.edu	37	16	66759798	66759798	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:66759798C>T	ENST00000258198.2	-	12	1517	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.L360L|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	437					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTTTACTCAACAGACTGT	0.458																																						uc002eqb.1		NA																	0				central_nervous_system(3)|skin(1)	4						c.(1309-1311)TTG>TTA		dynein, cytoplasmic, light intermediate							134.0	141.0	139.0					16																	66759798		2201	4300	6501	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66759798C>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1311G>A	16.37:g.66759798C>T						DYNC1LI2_uc010vis.1_Silent_p.L360L	p.L437L	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	12	1342	-		Ovarian(137;0.0563)	437					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.1311G>A	CCDS10818.1																																																																																				0.458	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		7	187	0	0	0	0	7	187				
NFAT5	10725	broad.mit.edu	37	16	69689635	69689635	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:69689635G>C	ENST00000354436.2	+	5	1393	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	NFAT5_ENST00000349945.1_Missense_Mutation_p.E283Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.E283Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E377Q|NFAT5_ENST00000566899.1_Missense_Mutation_p.E283Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	359	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTTGCAAAGAAGTGGACAT	0.423																																						uc002exm.1		NA																	0					0						c.(1075-1077)GAA>CAA		nuclear factor of activated T-cells 5 isoform c							141.0	130.0	134.0					16																	69689635		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69689635G>C	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1075G>C	16.37:g.69689635G>C	ENSP00000346420:p.Glu359Gln					NFAT5_uc002exh.1_Missense_Mutation_p.E153Q|NFAT5_uc002exi.2_Missense_Mutation_p.E283Q|NFAT5_uc002exj.1_Missense_Mutation_p.E283Q|NFAT5_uc002exk.1_Missense_Mutation_p.E283Q|NFAT5_uc002exl.1_Missense_Mutation_p.E377Q|NFAT5_uc002exn.1_Missense_Mutation_p.E377Q	p.E359Q	NM_006599	NP_006590	O94916	NFAT5_HUMAN			5	2283	+			359			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1075G>C	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372697	0.95923	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.71	5.71	0.89125	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.994;0.993	T	0.74337	-0.3698	10	0.87932	D	0	-3.2161	19.8493	0.96733	0.0:0.0:1.0:0.0	.	377;359;377;283	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	Q	377;377;283;359;283	ENSP00000396538:E377Q;ENSP00000338806:E283Q;ENSP00000346420:E359Q;ENSP00000377343:E283Q	ENSP00000338806:E283Q	E	+	1	0	NFAT5	68247136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.835000	0.99442	2.701000	0.92244	0.563000	0.77884	GAA		0.423	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		3	71	0	0	0	0	3	71				
VAT1L	57687	broad.mit.edu	37	16	77896753	77896753	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr16:77896753G>C	ENST00000302536.2	+	4	841	c.688G>C	c.(688-690)Gac>Cac	p.D230H	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	230							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCACCTCTTTGACAGAAATGC	0.473																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(688-690)GAC>CAC		vesicle amine transport protein 1 homolog (T.							134.0	118.0	123.0					16																	77896753		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77896753G>C	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.688G>C	16.37:g.77896753G>C	ENSP00000303129:p.Asp230His						p.D230H	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			4	785	+			230					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.688G>C	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613362	0.87359	.	.	ENSG00000171724	ENST00000302536	T	0.34667	1.35	5.93	5.93	0.95920	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.040493	0.85682	D	0.000000	T	0.58004	0.2092	M	0.78344	2.41	0.80722	D	1	D	0.55172	0.97	P	0.57620	0.824	T	0.50558	-0.8814	10	0.26408	T	0.33	-5.9823	19.949	0.97192	0.0:0.0:1.0:0.0	.	230	Q9HCJ6	VAT1L_HUMAN	H	230	ENSP00000303129:D230H	ENSP00000303129:D230H	D	+	1	0	VAT1L	76454254	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.597000	0.82733	2.826000	0.97356	0.655000	0.94253	GAC		0.473	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		4	112	0	0	0	0	4	112				
CNTROB	116840	broad.mit.edu	37	17	7838431	7838431	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:7838431G>C	ENST00000563694.1	+	4	1487	c.562G>C	c.(562-564)Gat>Cat	p.D188H	CNTROB_ENST00000380255.3_Missense_Mutation_p.D188H|CNTROB_ENST00000565740.1_Missense_Mutation_p.D188H|CNTROB_ENST00000380262.3_Missense_Mutation_p.D188H	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	188					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGGGCTGAGAGATGCATTGGA	0.542																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(562-564)GAT>CAT		centrobin, centrosomal BRCA2 interacting protein							60.0	60.0	60.0					17																	7838431		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838431G>C	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.562G>C	17.37:g.7838431G>C	ENSP00000456335:p.Asp188His					CNTROB_uc002gjp.2_Missense_Mutation_p.D188H|CNTROB_uc002gjr.2_Missense_Mutation_p.D90H|CNTROB_uc010vum.1_5'Flank	p.D188H	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			5	1481	+		Prostate(122;0.173)	188					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.562G>C	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586104	0.86851	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.52983	0.8;0.64	5.45	5.45	0.79879	.	0.177991	0.37577	N	0.002027	T	0.53400	0.1794	L	0.27053	0.805	0.48632	D	0.999684	D;D;P	0.62365	0.991;0.991;0.911	P;P;P	0.57720	0.823;0.823;0.826	T	0.57260	-0.7842	10	0.72032	D	0.01	-4.4177	18.0603	0.89374	0.0:0.0:1.0:0.0	.	188;188;188	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	H	188	ENSP00000369614:D188H;ENSP00000369605:D188H	ENSP00000369605:D188H	D	+	1	0	CNTROB	7779156	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.535000	0.67173	2.566000	0.86566	0.563000	0.77884	GAT		0.542	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		3	65	0	0	0	0	3	65				
KRBA2	124751	broad.mit.edu	37	17	8273686	8273686	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8273686G>C	ENST00000331336.2	-	2	250	c.245C>G	c.(244-246)tCc>tGc	p.S82C	KRBA2_ENST00000396267.1_5'UTR|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	82	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGGCATCATGGAGAGCTGTAA	0.403																																						uc002glf.1		NA																	0					0						c.(244-246)TCC>TGC		KRAB-A domain containing 2							68.0	71.0	70.0					17																	8273686		2185	4291	6476	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273686G>C	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.245C>G	17.37:g.8273686G>C	ENSP00000328017:p.Ser82Cys					KRBA2_uc002glg.1_5'UTR	p.S82C	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	251	-			82			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.245C>G	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417669	0.42918	.	.	ENSG00000184619	ENST00000331336	T	0.32753	1.44	2.42	2.42	0.29668	Krueppel-associated box (2);	.	.	.	.	T	0.47414	0.1444	L	0.60455	1.87	0.23232	N	0.99807	D	0.76494	0.999	D	0.80764	0.994	T	0.14144	-1.0483	9	0.66056	D	0.02	.	8.4961	0.33130	0.0:0.0:1.0:0.0	.	82	Q6ZNG9	KRBA2_HUMAN	C	82	ENSP00000328017:S82C	ENSP00000328017:S82C	S	-	2	0	KRBA2	8214411	0.080000	0.21391	0.666000	0.29783	0.142000	0.21351	0.965000	0.29319	1.692000	0.51112	0.555000	0.69702	TCC		0.403	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		5	78	0	0	0	0	5	78				
KRBA2	124751	broad.mit.edu	37	17	8274828	8274828	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:8274828G>C	ENST00000331336.2	-	1	30	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V	KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	9					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GAAGAGACAAGAGAGGGCACC	0.483																																						uc002glf.1		NA																	0					0						c.(25-27)CTT>GTT		KRAB-A domain containing 2							60.0	64.0	62.0					17																	8274828		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274828G>C	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.25C>G	17.37:g.8274828G>C	ENSP00000328017:p.Leu9Val					KRBA2_uc002glg.1_Intron	p.L9V	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			1	31	-			9					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.25C>G	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576320	0.00887	.	.	ENSG00000184619	ENST00000331336	T	0.29655	1.56	2.47	-1.31	0.09230	.	.	.	.	.	T	0.10551	0.0258	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.22452	-1.0216	9	0.54805	T	0.06	.	0.3882	0.00406	0.2086:0.1464:0.2413:0.4036	.	9	Q6ZNG9	KRBA2_HUMAN	V	9	ENSP00000328017:L9V	ENSP00000328017:L9V	L	-	1	0	KRBA2	8215553	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.830000	0.01699	-0.343000	0.08351	-0.521000	0.04368	CTT		0.483	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		3	56	0	0	0	0	3	56				
FAM83G	644815	broad.mit.edu	37	17	18881189	18881189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:18881189G>C	ENST00000388995.6	-	5	2013	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.S597*|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.S597*			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	597					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGAGCTGCCTGAGTGGCTGTC	0.642																																						uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1789-1791)TCA>TGA		hypothetical protein LOC644815							38.0	45.0	43.0					17																	18881189		2032	4165	6197	SO:0001587	stop_gained	644815							g.chr17:18881189G>C	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1790C>G	17.37:g.18881189G>C	ENSP00000373647:p.Ser597*					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.S597*	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1957	-			597					Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	ENST00000388995.6	37	c.1790C>G	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	41	8.784258	0.98952	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	.	.	.	5.91	5.91	0.95273	.	0.305552	0.29594	N	0.011705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.8615	18.4769	0.90797	0.0:0.0:1.0:0.0	.	.	.	.	X	597	.	ENSP00000343279:S597X	S	-	2	0	FAM83G	18821914	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.332000	0.59279	2.813000	0.96785	0.655000	0.94253	TCA		0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			11	68	0	0	0	0	11	68				
TNFAIP1	7126	broad.mit.edu	37	17	26669278	26669278	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:26669278C>G	ENST00000226225.2	+	6	791	c.524C>G	c.(523-525)tCt>tGt	p.S175C	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.S71C	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	175					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTCAGCAACTCTGACGACCAC	0.572																																						uc002hax.1		NA																	0					0						c.(523-525)TCT>TGT		tumor necrosis factor, alpha-induced protein 1							68.0	59.0	62.0					17																	26669278		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26669278C>G		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.524C>G	17.37:g.26669278C>G	ENSP00000226225:p.Ser175Cys					TNFAIP1_uc002hay.2_Missense_Mutation_p.S175C|TNFAIP1_uc010waf.1_Missense_Mutation_p.S71C	p.S175C	NM_021137	NP_066960	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	543	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		175					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.524C>G	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978277	0.74360	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.57595	0.39	5.73	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78391	-0.2222	10	0.56958	D	0.05	-14.1108	13.7892	0.63128	0.0:0.9268:0.0:0.0732	.	175	Q13829	BACD2_HUMAN	C	175;71	ENSP00000226225:S175C	ENSP00000226225:S175C	S	+	2	0	TNFAIP1	23693405	1.000000	0.71417	0.926000	0.36857	0.573000	0.36030	7.818000	0.86416	1.447000	0.47661	0.655000	0.94253	TCT		0.572	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		4	31	0	0	0	0	4	31				
LRRC37B	114659	broad.mit.edu	37	17	30349042	30349042	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:30349042C>G	ENST00000341671.7	+	1	882	c.877C>G	c.(877-879)Cag>Gag	p.Q293E	LRRC37B_ENST00000327564.7_Missense_Mutation_p.Q320E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q305E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q293E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q211E	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	293						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAGCTCCCTCAGGAGGTAGA	0.522																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(877-879)CAG>GAG		leucine rich repeat containing 37B precursor							47.0	57.0	54.0					17																	30349042		2202	4299	6501	SO:0001583	missense	114659					integral to membrane		g.chr17:30349042C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.877C>G	17.37:g.30349042C>G	ENSP00000340519:p.Gln293Glu					LRRC37B_uc010wbx.1_Missense_Mutation_p.Q211E|LRRC37B_uc010csu.2_Missense_Mutation_p.Q293E	p.Q293E	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	888	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	293			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.877C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.045784	0.00398	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.58506	0.39;0.33;1.43;0.33	1.98	-0.378	0.12497	.	.	.	.	.	T	0.12347	0.0300	N	0.00040	-2.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39078	-0.9631	9	0.02654	T	1	.	7.6863	0.28542	0.0:0.5298:0.4702:0.0	.	293;293	Q17RC9;Q96QE4	.;LR37B_HUMAN	E	211;320;293;293	ENSP00000443345:Q211E;ENSP00000332536:Q320E;ENSP00000378202:Q293E;ENSP00000340519:Q293E	ENSP00000332536:Q320E	Q	+	1	0	LRRC37B	27373155	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.454000	0.06770	-0.020000	0.14032	-1.252000	0.01501	CAG		0.522	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		16	127	0	0	0	0	16	127				
ACACA	31	broad.mit.edu	37	17	35602001	35602001	+	Missense_Mutation	SNP	G	G	C	rs551661583		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:35602001G>C	ENST00000394406.2	-	20	2669	c.2479C>G	c.(2479-2481)Cag>Gag	p.Q827E	ACACA_ENST00000335166.5_Missense_Mutation_p.Q749E|ACACA_ENST00000360679.3_Missense_Mutation_p.Q769E|ACACA_ENST00000353139.5_Missense_Mutation_p.Q864E	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	827					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCTGAACCTTGCTG	0.498																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2479-2481)CAG>GAG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						254.0	247.0	249.0					17																	35602001		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35602001G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2479C>G	17.37:g.35602001G>C	ENSP00000377928:p.Gln827Glu					ACACA_uc002hnk.2_Missense_Mutation_p.Q749E|ACACA_uc002hnl.2_Missense_Mutation_p.Q769E|ACACA_uc002hnn.2_Missense_Mutation_p.Q827E|ACACA_uc002hno.2_Missense_Mutation_p.Q864E|ACACA_uc010cuz.2_Missense_Mutation_p.Q827E	p.Q827E	NM_198836	NP_942133	Q13085	ACACA_HUMAN			20	2670	-		Breast(25;0.00157)|Ovarian(249;0.15)	827					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2479C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231553	0.58777	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.84	4.84	0.62591	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.46157	1.445	0.80722	D	1	B;B;B	0.29671	0.108;0.254;0.214	B;B;B	0.36030	0.089;0.216;0.138	T	0.44097	-0.9350	10	0.54805	T	0.06	-12.8872	17.1401	0.86750	0.0:0.0:1.0:0.0	.	864;827;769	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	E	864;769;827;851;749	ENSP00000344789:Q864E;ENSP00000353898:Q769E;ENSP00000377928:Q827E;ENSP00000335323:Q749E	ENSP00000335323:Q749E	Q	-	1	0	ACACA	32676114	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.331000	0.65905	2.512000	0.84698	0.655000	0.94253	CAG		0.498	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	295	0	0	0	0	20	295				
NPEPPS	9520	broad.mit.edu	37	17	45662950	45662950	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:45662950C>G	ENST00000322157.4	+	6	970	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	NPEPPS_ENST00000530173.1_Missense_Mutation_p.L241V|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.L165V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	245					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GTCTACATATCTGGTGGCATT	0.403																																						uc002ilr.3		NA																	0					0						c.(733-735)CTG>GTG		aminopeptidase puromycin sensitive							144.0	133.0	137.0					17																	45662950		1848	4099	5947	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45662950C>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.733C>G	17.37:g.45662950C>G	ENSP00000320324:p.Leu245Val					NPEPPS_uc010wkt.1_Missense_Mutation_p.L241V|NPEPPS_uc010wku.1_Missense_Mutation_p.L209V|NPEPPS_uc010dba.1_Missense_Mutation_p.L90V|NPEPPS_uc010wkv.1_5'Flank	p.L245V	NM_006310	NP_006301	P55786	PSA_HUMAN			6	956	+			245					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.733C>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326942	0.60743	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.08984	3.03;3.03;3.03	5.52	3.18	0.36537	Peptidase M1, membrane alanine aminopeptidase, N-terminal (4);	0.132668	0.52532	D	0.000077	T	0.38904	0.1058	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.994;0.994	T	0.57075	-0.7873	10	0.87932	D	0	.	12.902	0.58130	0.0:0.8449:0.0:0.1551	.	245;241;245	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	V	241;245;232;165	ENSP00000433287:L241V;ENSP00000320324:L245V;ENSP00000442461:L165V	ENSP00000320324:L245V	L	+	1	2	NPEPPS	43017949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.722000	0.47269	1.339000	0.45563	0.650000	0.86243	CTG		0.403	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		19	133	0	0	0	0	19	133				
KCNH6	81033	broad.mit.edu	37	17	61621693	61621693	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61621693C>G	ENST00000583023.1	+	12	2436	c.2425C>G	c.(2425-2427)Caa>Gaa	p.Q809E	KCNH6_ENST00000314672.5_Missense_Mutation_p.Q773E|KCNH6_ENST00000456941.2_Missense_Mutation_p.Q720E|KCNH6_ENST00000581784.1_Missense_Mutation_p.Q720E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	809					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCACAGCCCCCAAAGCCCTCA	0.617																																						uc002jay.2		NA																	0				skin(1)	1						c.(2425-2427)CAA>GAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						38.0	43.0	42.0					17																	61621693		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61621693C>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2425C>G	17.37:g.61621693C>G	ENSP00000463533:p.Gln809Glu					KCNH6_uc010wpl.1_Missense_Mutation_p.Q650E|KCNH6_uc010wpm.1_Missense_Mutation_p.Q773E|KCNH6_uc002jaz.1_Missense_Mutation_p.Q720E	p.Q809E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			12	2505	+			809			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2425C>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.485317	0.00163	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99186	-5.53	5.63	3.65	0.41850	.	2.483130	0.02133	N	0.056567	D	0.95297	0.8474	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.0;0.001	D	0.90361	0.4373	10	0.02654	T	1	.	8.7412	0.34558	0.0:0.7091:0.0:0.2909	.	650;773;720;809	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	E	809;720	ENSP00000396900:Q720E	ENSP00000318212:Q809E	Q	+	1	0	KCNH6	58975425	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.270000	0.18607	0.858000	0.35431	0.655000	0.94253	CAA		0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		5	35	0	0	0	0	5	35				
DDX42	11325	broad.mit.edu	37	17	61889312	61889312	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr17:61889312G>C	ENST00000578681.1	+	15	2020	c.1419G>C	c.(1417-1419)caG>caC	p.Q473H	DDX42_ENST00000583590.1_Missense_Mutation_p.Q473H|DDX42_ENST00000359353.5_Missense_Mutation_p.Q354H|DDX42_ENST00000457800.2_Missense_Mutation_p.Q473H|DDX42_ENST00000389924.2_Missense_Mutation_p.Q473H	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	473					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATGTGACACAGATTGTGGAGA	0.443																																						uc002jbu.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(1417-1419)CAG>CAC		DEAD box polypeptide 42 protein							200.0	206.0	204.0					17																	61889312		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61889312G>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1419G>C	17.37:g.61889312G>C	ENSP00000464050:p.Gln473His					DDX42_uc002jbv.2_Missense_Mutation_p.Q473H|DDX42_uc002jbw.1_Missense_Mutation_p.Q209H|DDX42_uc002jbx.2_Missense_Mutation_p.Q209H|DDX42_uc002jby.2_Missense_Mutation_p.Q19H	p.Q473H	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			15	1676	+			473					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1419G>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958266	0.73902	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05513	3.43;3.43	5.64	3.64	0.41730	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.44544	-0.9321	10	0.87932	D	0	-13.1879	10.8799	0.46933	0.2122:0.0:0.7878:0.0	.	19;473	B3KV84;Q86XP3	.;DDX42_HUMAN	H	473;473;209	ENSP00000374574:Q473H;ENSP00000390121:Q473H	ENSP00000352308:Q209H	Q	+	3	2	DDX42	59243044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.899000	0.56288	0.858000	0.35431	-0.157000	0.13467	CAG		0.443	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		27	275	0	0	0	0	27	275				
YES1	7525	broad.mit.edu	37	18	743308	743308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:743308G>A	ENST00000584307.1	-	7	1002	c.832C>T	c.(832-834)Cga>Tga	p.R278*	YES1_ENST00000314574.4_Nonsense_Mutation_p.R278*|YES1_ENST00000577961.1_Nonsense_Mutation_p.R283*			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ACCTCTAGTCGCAAAGATTCT	0.423																																						uc002kky.2		NA																	0				lung(2)|ovary(1)	3						c.(832-834)CGA>TGA		viral oncogene yes-1 homolog 1	Dasatinib(DB01254)						116.0	106.0	109.0					18																	743308		2203	4300	6503	SO:0001587	stop_gained	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:743308G>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.832C>T	18.37:g.743308G>A	ENSP00000462468:p.Arg278*					YES1_uc002kkz.2_Nonsense_Mutation_p.R278*	p.R278*	NM_005433	NP_005424	P07947	YES_HUMAN			7	1053	-			278			Protein kinase.		A6NLB3|D3DUH1	Nonsense_Mutation	SNP	ENST00000584307.1	37	c.832C>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	G	37	6.276785	0.97435	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	.	.	.	5.69	2.74	0.32292	.	0.059295	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	15.0957	0.72232	0.0:0.0:0.4642:0.5358	.	.	.	.	X	278	.	ENSP00000324740:R278X	R	-	1	2	YES1	733308	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.982000	0.49337	0.247000	0.21414	0.655000	0.94253	CGA		0.423	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		8	55	0	0	0	0	8	55				
ZNF407	55628	broad.mit.edu	37	18	72345521	72345521	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr18:72345521C>T	ENST00000299687.5	+	1	2546	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	ZNF407_ENST00000309902.6_Missense_Mutation_p.S849L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S849L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S849L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTAACATCTCACGGACGTGT	0.438																																						uc002llw.2		NA																	0				ovary(2)	2						c.(2545-2547)TCA>TTA		zinc finger protein 407 isoform 1							85.0	83.0	84.0					18																	72345521		1962	4148	6110	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345521C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2546C>T	18.37:g.72345521C>T	ENSP00000299687:p.Ser849Leu					ZNF407_uc010xfc.1_Missense_Mutation_p.S849L|ZNF407_uc010dqu.1_Missense_Mutation_p.S849L|ZNF407_uc002llu.2_Missense_Mutation_p.S848L	p.S849L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2603	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	849					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2546C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277077	0.80580	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.18174	2.3;2.23	5.63	5.63	0.86233	.	3.870650	0.00531	N	0.000208	T	0.48466	0.1501	L	0.49126	1.545	0.27751	N	0.944162	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.976;0.946	T	0.60424	-0.7266	10	0.59425	D	0.04	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	849;849;849	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	849	ENSP00000299687:S849L;ENSP00000310359:S849L	ENSP00000299687:S849L	S	+	2	0	ZNF407	70474509	0.993000	0.37304	0.514000	0.27761	0.995000	0.86356	4.611000	0.61162	-0.954000	0.03640	0.455000	0.32223	TCA		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		8	74	0	0	0	0	8	74				
GNA15	2769	broad.mit.edu	37	19	3155896	3155896	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:3155896C>G	ENST00000262958.3	+	5	948	c.690C>G	c.(688-690)atC>atG	p.I230M	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	230					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TCGCCCTCATCTACCTGGCCT	0.602																																						uc002lxf.2		NA																	0				skin(2)	2						c.(688-690)ATC>ATG		guanine nucleotide binding protein (G protein),							178.0	139.0	153.0					19																	3155896		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3155896C>G		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.690C>G	19.37:g.3155896C>G	ENSP00000262958:p.Ile230Met						p.I230M	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	5	948	+		Hepatocellular(1079;0.137)	230					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.690C>G	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142709	0.37825	.	.	ENSG00000060558	ENST00000262958	D	0.86366	-2.11	4.09	3.02	0.34903	.	0.000000	0.85682	U	0.000000	D	0.89178	0.6641	M	0.62723	1.935	0.45867	D	0.998726	P	0.36577	0.558	P	0.55345	0.774	D	0.85041	0.0923	10	0.36615	T	0.2	.	5.6913	0.17831	0.0:0.6858:0.2035:0.1108	.	230	P30679	GNA15_HUMAN	M	230	ENSP00000262958:I230M	ENSP00000262958:I230M	I	+	3	3	GNA15	3106896	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.125000	0.31332	0.719000	0.32188	0.274000	0.19336	ATC		0.602	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		3	48	0	0	0	0	3	48				
DPY19L3	147991	broad.mit.edu	37	19	32954294	32954294	+	Missense_Mutation	SNP	G	G	A	rs148244577	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:32954294G>A	ENST00000342179.5	+	13	1560	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	DPY19L3_ENST00000392250.2_Missense_Mutation_p.V449M|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.V449M	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	449						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCAACAATCCGTGGGTAAAAT	0.338													G|||	4	0.000798722	0.003	0.0	5008	,	,		17732	0.0		0.0	False		,,,				2504	0.0					uc002ntg.2		NA																	0				ovary(4)	4						c.(1345-1347)GTG>ATG		dpy-19-like 3		G	MET/VAL,MET/VAL	8,4398	15.5+/-35.6	0,8,2195	131.0	114.0	120.0		1345,1345	-4.0	0.0	19	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense	DPY19L3	NM_001172774.1,NM_207325.2	21,21	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign,benign	449/717,449/717	32954294	8,12998	2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954294G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1345G>A	19.37:g.32954294G>A	ENSP00000344937:p.Val449Met					DPY19L3_uc002nth.1_Missense_Mutation_p.V449M|DPY19L3_uc002nti.1_RNA	p.V449M	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			13	1521	+	Esophageal squamous(110;0.162)		449					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1345G>A	CCDS12422.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	0.547	-0.851260	0.02651	0.001816	0.0	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.55760	0.5;0.5	5.36	-4.04	0.04010	.	1.116350	0.06380	N	0.715095	T	0.22475	0.0542	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10613	-1.0622	10	0.36615	T	0.2	-2.5679	3.4857	0.07618	0.3425:0.1967:0.3647:0.096	.	449	Q6ZPD9	D19L3_HUMAN	M	449	ENSP00000376081:V449M;ENSP00000344937:V449M	ENSP00000315672:V449M	V	+	1	0	DPY19L3	37646134	0.000000	0.05858	0.012000	0.15200	0.106000	0.19336	-1.179000	0.03090	-0.996000	0.03455	-1.300000	0.01332	GTG		0.338	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		6	52	0	0	0	0	6	52				
KIRREL2	84063	broad.mit.edu	37	19	36357106	36357106	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:36357106G>A	ENST00000360202.5	+	15	2037	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000221891.4_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L578L|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	613					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGAGCCTGAGCCTTGGCG	0.607																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1837-1839)CTG>CTA		kin of IRRE-like 2 isoform c							91.0	88.0	89.0					19																	36357106		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357106G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1839G>A	19.37:g.36357106G>A						KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.L560L|KIRREL2_uc002ocd.3_Silent_p.L575L|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	p.L613L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2051	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		613			Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.1839G>A	CCDS12481.1																																																																																				0.607	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		12	98	0	0	0	0	12	98				
LTBP4	8425	broad.mit.edu	37	19	41122917	41122917	+	Missense_Mutation	SNP	G	G	A	rs562454425		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:41122917G>A	ENST00000308370.7	+	23	3136	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.G1009R|LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000396819.3_Missense_Mutation_p.G979R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1046	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGGGGGCGGATGCCAGGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19111	0.001		0.0	False		,,,				2504	0.0					uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.(3136-3138)GGA>AGA		latent transforming growth factor beta binding							54.0	57.0	56.0					19																	41122917		1992	4139	6131	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41122917G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3136G>A	19.37:g.41122917G>A	ENSP00000311905:p.Gly1046Arg					LTBP4_uc002oog.1_Missense_Mutation_p.G1009R|LTBP4_uc002ooi.1_Missense_Mutation_p.G979R|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron	p.G1046R	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		23	3136	+			1046			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3136G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.292203	0.80914	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;T;D	0.86769	-2.17;-1.35;-2.17	4.63	4.63	0.57726	EGF-like calcium-binding (1);	0.000000	0.39615	N	0.001317	D	0.85044	0.5607	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;0.991	T	0.82697	-0.0329	10	0.18276	T	0.48	.	15.012	0.71557	0.0:0.0:1.0:0.0	.	979;1046;1009	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	R	1009;1046;979	ENSP00000204005:G1009R;ENSP00000311905:G1046R;ENSP00000380031:G979R	ENSP00000204005:G1009R	G	+	1	0	LTBP4	45814757	0.981000	0.34729	0.997000	0.53966	0.996000	0.88848	5.073000	0.64395	2.402000	0.81655	0.462000	0.41574	GGA		0.602	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		8	49	0	0	0	0	8	49				
CLPTM1	1209	broad.mit.edu	37	19	45490456	45490456	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:45490456G>A	ENST00000337392.5	+	8	963	c.813G>A	c.(811-813)gtG>gtA	p.V271V	CLPTM1_ENST00000541297.2_Silent_p.V257V|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.V169V	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	271					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGACGCCGTGAGCGGTGACT	0.612																																						uc002pai.2		NA																	0				ovary(1)	1						c.(811-813)GTG>GTA		cleft lip and palate associated transmembrane							134.0	135.0	135.0					19																	45490456		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490456G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.813G>A	19.37:g.45490456G>A						CLPTM1_uc010ejv.1_Silent_p.V169V|CLPTM1_uc010xxf.1_Silent_p.V169V|CLPTM1_uc010xxg.1_Silent_p.V257V	p.V271V	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	828	+		all_neural(266;0.224)|Ovarian(192;0.231)	271			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.813G>A	CCDS12651.1																																																																																				0.612	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		17	157	0	0	0	0	17	157				
SPHK2	56848	broad.mit.edu	37	19	49129394	49129394	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:49129394G>A	ENST00000245222.4	+	3	652	c.286G>A	c.(286-288)Gag>Aag	p.E96K	SPHK2_ENST00000600537.1_Missense_Mutation_p.E37K|SPHK2_ENST00000340932.3_Missense_Mutation_p.E60K|SPHK2_ENST00000598088.1_Missense_Mutation_p.E96K|SPHK2_ENST00000599748.1_Missense_Mutation_p.E60K|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_Missense_Mutation_p.E60K|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000601712.1_Missense_Mutation_p.E60K|SPHK2_ENST00000599033.1_3'UTR|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000443164.1_Missense_Mutation_p.E158K	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	96	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCGTTGGCCGAGGTCTCAGG	0.701																																						uc002pjr.2		NA																	0				lung(1)	1						c.(286-288)GAG>AAG		sphingosine kinase 2							20.0	23.0	22.0					19																	49129394		2199	4287	6486	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49129394G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.286G>A	19.37:g.49129394G>A	ENSP00000245222:p.Glu96Lys					SPHK2_uc010xzt.1_Missense_Mutation_p.E37K|SPHK2_uc002pjs.2_Missense_Mutation_p.E96K|SPHK2_uc002pjt.2_Intron|SPHK2_uc002pju.2_Missense_Mutation_p.E60K|SPHK2_uc002pjv.2_Missense_Mutation_p.E60K|SPHK2_uc002pjw.2_Missense_Mutation_p.E158K|SPHK2_uc010xzu.1_Missense_Mutation_p.E60K	p.E96K	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	3	652	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	96			Required for binding to sulfatide and phosphoinositides and for membrane localization.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.286G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232059	0.58777	.	.	ENSG00000063176	ENST00000245222;ENST00000340932;ENST00000443164	T;T;T	0.31769	1.86;1.6;1.48	3.98	3.98	0.46160	.	0.255455	0.35349	N	0.003274	T	0.34250	0.0891	L	0.38175	1.15	0.25768	N	0.98487	B;P;D;D	0.57257	0.317;0.955;0.979;0.961	B;B;P;B	0.51079	0.027;0.355;0.658;0.271	T	0.16600	-1.0397	10	0.72032	D	0.01	-24.1708	13.9412	0.64057	0.0:0.0:1.0:0.0	.	37;158;60;96	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	K	96;60;158	ENSP00000245222:E96K;ENSP00000341091:E60K;ENSP00000413369:E158K	ENSP00000245222:E96K	E	+	1	0	SPHK2	53821206	0.995000	0.38212	0.956000	0.39512	0.983000	0.72400	2.330000	0.43885	2.220000	0.72140	0.557000	0.71058	GAG		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			8	47	0	0	0	0	8	47				
ZNF836	162962	broad.mit.edu	37	19	52658816	52658816	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:52658816G>C	ENST00000322146.8	-	5	2641	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S707*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGTTTTGAACTTTGGAT	0.398																																						uc010ydi.1		NA																	0					0						c.(2119-2121)TCA>TGA		zinc finger protein 836							64.0	65.0	65.0					19																	52658816		1965	4181	6146	SO:0001587	stop_gained	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658816G>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2120C>G	19.37:g.52658816G>C	ENSP00000325038:p.Ser707*					ZNF836_uc010ydj.1_Nonsense_Mutation_p.S707*	p.S707*	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	2494	-			707			C2H2-type 18; degenerate.			Nonsense_Mutation	SNP	ENST00000322146.8	37	c.2120C>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	g	38	7.022214	0.98010	.	.	ENSG00000196267	ENST00000322146	.	.	.	2.24	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.8792	0.29612	0.1373:0.0:0.8627:0.0	.	.	.	.	X	707	.	ENSP00000325038:S707X	S	-	2	0	ZNF836	57350628	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.022000	0.12480	0.270000	0.21984	0.555000	0.69702	TCA		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		11	59	0	0	0	0	11	59				
MYADM	91663	broad.mit.edu	37	19	54377026	54377026	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:54377026C>G	ENST00000391769.2	+	3	523	c.243C>G	c.(241-243)atC>atG	p.I81M	MYADM_ENST00000391768.2_Missense_Mutation_p.I81M|MYADM_ENST00000336967.3_Missense_Mutation_p.I81M|MYADM_ENST00000391771.1_Missense_Mutation_p.I81M|MYADM_ENST00000391770.4_Missense_Mutation_p.I81M|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	81	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.			Missing (in Ref. 4; BAC04265). {ECO:0000305}.	establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGACCCTGATCATCCTCATCG	0.642											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qcl.2		NA																	0				ovary(1)	1						c.(241-243)ATC>ATG		myeloid-associated differentiation marker							137.0	118.0	124.0					19																	54377026		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377026C>G	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.243C>G	19.37:g.54377026C>G	ENSP00000375649:p.Ile81Met		OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	999	MYADM_uc002qcm.2_Missense_Mutation_p.I81M|MYADM_uc002qcn.2_Missense_Mutation_p.I81M|MYADM_uc002qco.2_Missense_Mutation_p.I81M|MYADM_uc002qcp.2_Missense_Mutation_p.I81M	p.I81M	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	391	+	Ovarian(34;0.19)		81	Missing (in Ref. 4; BAC04265).		MARVEL 1.|Helical; (Potential).		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.243C>G	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014512	0.54468	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768;ENST00000414489	T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.31	3.2	0.36748	Marvel (1);MARVEL-like domain (1);	0.156567	0.43260	D	0.000596	T	0.39279	0.1072	M	0.72118	2.19	0.37102	D	0.899948	P	0.43542	0.81	P	0.50659	0.647	T	0.53535	-0.8425	10	0.72032	D	0.01	-23.5094	12.6251	0.56626	0.0:0.832:0.168:0.0	.	81	Q96S97	MYADM_HUMAN	M	81	ENSP00000398269:I81M;ENSP00000337222:I81M;ENSP00000375650:I81M;ENSP00000399722:I81M;ENSP00000416919:I81M;ENSP00000375651:I81M;ENSP00000375649:I81M;ENSP00000375648:I81M;ENSP00000404958:I81M	ENSP00000337222:I81M	I	+	3	3	MYADM	59068838	0.995000	0.38212	1.000000	0.80357	0.832000	0.47134	0.476000	0.22180	2.138000	0.66242	0.313000	0.20887	ATC		0.642	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		6	123	0	0	0	0	6	123				
FCAR	2204	broad.mit.edu	37	19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000391726.3_Missense_Mutation_p.V125M|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(697-699)GTG>ATG		Fc alpha receptor isoform a precursor							317.0	310.0	312.0					19																	55401062		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401062G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.697G>A	19.37:g.55401062G>A	ENSP00000347714:p.Val233Met					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V184M|FCAR_uc010esi.1_Missense_Mutation_p.V110M|FCAR_uc002qhu.1_Missense_Mutation_p.V137M|FCAR_uc002qhv.1_Missense_Mutation_p.V211M|FCAR_uc002qhw.1_Missense_Mutation_p.V221M|FCAR_uc002qhx.1_Missense_Mutation_p.V125M|FCAR_uc002qhy.1_Missense_Mutation_p.V199M|FCAR_uc002qhz.1_Missense_Mutation_p.R196H|FCAR_uc002qia.1_Missense_Mutation_p.V124M	p.V233M	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	894	+			233			Helical; (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.697G>A	CCDS12907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.538|5.538	0.284210|0.284210	0.10513|0.10513	.|.	.|.	ENSG00000186431|ENSG00000186431	ENST00000391723|ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T|T;T;T;T;T;T;T	0.00591|0.03301	6.35|3.98;6.79;6.63;4.96;6.61;6.7;6.48	3.9|3.9	-7.13|-7.13	0.01532|0.01532	.|.	.|.	.|.	.|.	.|.	T|T	0.01905|0.01905	0.0060|0.0060	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|B;B;B;B;B;P;B	0.11235|0.38300	0.004|0.01;0.076;0.422;0.175;0.041;0.626;0.039	B|B;B;B;B;B;B;B	0.04013|0.25987	0.001|0.004;0.015;0.022;0.012;0.016;0.065;0.011	T|T	0.40683|0.40683	-0.9550|-0.9550	8|8	0.87932|0.48119	D|T	0|0.1	.|.	6.098|6.098	0.20031|0.20031	0.5393:0.2704:0.1903:0.0|0.5393:0.2704:0.1903:0.0	.|.	196|124;199;125;221;211;137;233	Q92588|Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.|.;.;.;.;.;.;FCAR_HUMAN	H|M	196|125;233;211;137;124;221;199	ENSP00000375603:R196H|ENSP00000375606:V125M;ENSP00000347714:V233M;ENSP00000375605:V211M;ENSP00000338257:V137M;ENSP00000338058:V124M;ENSP00000352218:V221M;ENSP00000375604:V199M	ENSP00000375603:R196H|ENSP00000338257:V137M	R|V	+|+	2|1	0|0	FCAR|FCAR	60092874|60092874	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.074000|0.074000	0.17049|0.17049	-1.798000|-1.798000	0.01747|0.01747	-1.024000|-1.024000	0.03338|0.03338	-2.092000|-2.092000	0.00371|0.00371	CGT|GTG		0.527	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		31	387	0	0	0	0	31	387				
ZNF274	10782	broad.mit.edu	37	19	58697097	58697097	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:58697097G>A	ENST00000326804.4	+	3	511	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ZNF274_ENST00000345813.3_Missense_Mutation_p.D18N|ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCTTTGAAGATGTAACACT	0.517																																						uc002qrq.1		NA																	0				ovary(1)	1						c.(52-54)GAT>AAT		zinc finger protein 274 isoform c							99.0	108.0	105.0					19																	58697097		2188	4296	6484	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58697097G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.52G>A	19.37:g.58697097G>A	ENSP00000321209:p.Asp18Asn					ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.D18N|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR	p.D18N	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	3	511	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	18			KRAB 1.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.52G>A		.	.	.	.	.	.	.	.	.	.	G	24.1	4.494010	0.84962	.	.	ENSG00000171606	ENST00000326804;ENST00000345813	T;T	0.11169	2.8;2.8	4.22	4.22	0.49857	Krueppel-associated box (4);	0.000000	0.35585	N	0.003105	T	0.41789	0.1174	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53563	-0.8421	10	0.87932	D	0	-25.9868	14.5326	0.67936	0.0:0.0:1.0:0.0	.	18;18	Q96GC6-2;Q96GC6	.;ZN274_HUMAN	N	18	ENSP00000321209:D18N;ENSP00000321187:D18N	ENSP00000321209:D18N	D	+	1	0	ZNF274	63388909	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.013000	0.64023	2.640000	0.89533	0.655000	0.94253	GAT		0.517	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		12	97	0	0	0	0	12	97				
CHMP2A	27243	broad.mit.edu	37	19	59063499	59063499	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr19:59063499C>T	ENST00000600118.1	-	3	827	c.402G>A	c.(400-402)gaG>gaA	p.E134E	CHMP2A_ENST00000601220.1_Silent_p.E134E|CHMP2A_ENST00000312547.2_Silent_p.E134E			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	134	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TATCCATGATCTCTGCCTGCC	0.512																																						uc002qti.2		NA																	0					0						c.(400-402)GAG>GAA		chromatin modifying protein 2A							274.0	221.0	239.0					19																	59063499		2203	4300	6503	SO:0001819	synonymous_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063499C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.402G>A	19.37:g.59063499C>T						CHMP2A_uc002qtj.2_Silent_p.E134E|CHMP2A_uc002qtk.2_Silent_p.E134E	p.E134E	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	828	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	134			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Silent	SNP	ENST00000600118.1	37	c.402G>A	CCDS12986.1																																																																																				0.512	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		12	186	0	0	0	0	12	186				
SOS1	6654	broad.mit.edu	37	2	39234174	39234174	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234174C>G	ENST00000426016.1	-	17	2757	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	SOS1_ENST00000395038.2_Missense_Mutation_p.E891Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E891Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	891	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAACCTACCTCAAATGTGTGG	0.299									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2671-2673)GAG>CAG		son of sevenless homolog 1							116.0	115.0	115.0					2																	39234174		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234174C>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2671G>C	2.37:g.39234174C>G	ENSP00000387784:p.Glu891Gln					SOS1_uc002rrj.3_Missense_Mutation_p.E505Q	p.E891Q	NM_005633	NP_005624	Q07889	SOS1_HUMAN			16	2712	-		all_hematologic(82;0.21)	891			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2671G>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950834	0.53186	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.33438	1.41;1.41;1.41	5.95	5.95	0.96441	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	N	0.20610	0.595	0.80722	D	1	B	0.26775	0.159	B	0.29663	0.105	T	0.05241	-1.0897	10	0.19590	T	0.45	.	20.3886	0.98946	0.0:1.0:0.0:0.0	.	891	Q07889	SOS1_HUMAN	Q	891;891;623;891;891	ENSP00000387784:E891Q;ENSP00000384675:E891Q;ENSP00000378479:E891Q	ENSP00000263879:E891Q	E	-	1	0	SOS1	39087678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.707000	0.84623	2.810000	0.96702	0.650000	0.86243	GAG		0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		3	87	0	0	0	0	3	87				
SOS1	6654	broad.mit.edu	37	2	39234255	39234255	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:39234255C>G	ENST00000426016.1	-	17	2676	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q	SOS1_ENST00000395038.2_Missense_Mutation_p.E864Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E864Q			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	864	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGTTCAACTCTTGAAAGACT	0.358									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2590-2592)GAG>CAG		son of sevenless homolog 1							149.0	150.0	150.0					2																	39234255		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234255C>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2590G>C	2.37:g.39234255C>G	ENSP00000387784:p.Glu864Gln					SOS1_uc002rrj.3_Missense_Mutation_p.E478Q	p.E864Q	NM_005633	NP_005624	Q07889	SOS1_HUMAN			16	2631	-		all_hematologic(82;0.21)	864			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2590G>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867381	0.91511	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.32988	1.43;1.43;1.43	5.89	5.89	0.94794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.42245	1.32	0.80722	D	1	P	0.35155	0.487	P	0.49140	0.601	T	0.22626	-1.0211	10	0.54805	T	0.06	.	20.2402	0.98368	0.0:1.0:0.0:0.0	.	864	Q07889	SOS1_HUMAN	Q	864;864;596;864;864	ENSP00000387784:E864Q;ENSP00000384675:E864Q;ENSP00000378479:E864Q	ENSP00000263879:E864Q	E	-	1	0	SOS1	39087759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.775000	0.95449	0.603000	0.83216	GAG		0.358	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		11	126	0	0	0	0	11	126				
KDM3A	55818	broad.mit.edu	37	2	86693679	86693679	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:86693679G>A	ENST00000409556.1	+	11	1557	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D398N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D346N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D398N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	398					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GACAAACACTGATCAGGAAAA	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(1192-1194)GAT>AAT		jumonji domain containing 1A							146.0	136.0	139.0					2																	86693679		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86693679G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1192G>A	2.37:g.86693679G>A	ENSP00000386660:p.Asp398Asn					KDM3A_uc010ytj.1_Missense_Mutation_p.D398N|KDM3A_uc010ytk.1_Missense_Mutation_p.D346N	p.D398N	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			10	1519	+			398					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1192G>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933589	0.34096	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.93	4.14	0.48551	.	0.867484	0.10238	N	0.698722	T	0.40423	0.1116	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26189	-1.0110	10	0.17832	T	0.49	.	8.9304	0.35666	0.0771:0.3029:0.6199:0.0	.	346;398	F5H070;Q9Y4C1	.;KDM3A_HUMAN	N	398;398;398;398;346	ENSP00000386660:D398N;ENSP00000323659:D398N;ENSP00000386516:D398N;ENSP00000438324:D346N	ENSP00000323659:D398N	D	+	1	0	KDM3A	86547190	0.005000	0.15991	0.252000	0.24328	0.952000	0.60782	1.304000	0.33482	0.846000	0.35142	0.655000	0.94253	GAT		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		15	169	0	0	0	0	15	169				
MITD1	129531	broad.mit.edu	37	2	99797402	99797402	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:99797402C>T	ENST00000289359.2	-	1	119	c.43G>A	c.(43-45)Gca>Aca	p.A15T	MRPL30_ENST00000338148.3_5'Flank|MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000410042.1_Intron|C2orf15_ENST00000512183.2_5'Flank|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	15	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						ACAGTGGCTGCAGCTGTGCTC	0.587																																						uc002szs.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(43-45)GCA>ACA		MIT, microtubule interacting and transport,							54.0	51.0	52.0					2																	99797402		2203	4300	6503	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99797402C>T	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.43G>A	2.37:g.99797402C>T	ENSP00000289359:p.Ala15Thr					MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank	p.A15T	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN			1	91	-			15			MIT.		Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.43G>A	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319560	0.95682	.	.	ENSG00000158411	ENST00000289359;ENST00000409107	T;T	0.64438	-0.1;-0.1	5.49	5.49	0.81192	MIT (2);	0.052093	0.85682	D	0.000000	D	0.83252	0.5214	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.86455	0.1775	10	0.87932	D	0	-3.1067	16.9091	0.86136	0.0:1.0:0.0:0.0	.	15	Q8WV92	MITD1_HUMAN	T	15	ENSP00000289359:A15T;ENSP00000387316:A15T	ENSP00000289359:A15T	A	-	1	0	MITD1	99163834	1.000000	0.71417	0.205000	0.23548	0.009000	0.06853	6.087000	0.71362	2.845000	0.97973	0.643000	0.83706	GCA		0.587	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		5	57	0	0	0	0	5	57				
EIF5B	9669	broad.mit.edu	37	2	100007051	100007051	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:100007051G>C	ENST00000289371.6	+	17	2833	c.2631G>C	c.(2629-2631)ttG>ttC	p.L877F		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	877					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTCATCTTGATCAATGGGC	0.438																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2629-2631)TTG>TTC		eukaryotic translation initiation factor 5B							175.0	160.0	165.0					2																	100007051		1928	4138	6066	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100007051G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2631G>C	2.37:g.100007051G>C	ENSP00000289371:p.Leu877Phe						p.L877F	NM_015904	NP_056988	O60841	IF2P_HUMAN			17	2815	+			877					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2631G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793208	0.70452	.	.	ENSG00000158417	ENST00000289371	T	0.67171	-0.25	5.53	4.63	0.57726	Translation elongation factor EFTu/EF1A, domain 2 (1);	.	.	.	.	D	0.83903	0.5355	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86138	0.1579	8	.	.	.	-8.5444	9.4888	0.38946	0.1132:0.1311:0.7558:0.0	.	877	O60841	IF2P_HUMAN	F	877	ENSP00000289371:L877F	.	L	+	3	2	EIF5B	99373483	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	3.285000	0.51716	1.418000	0.47098	0.561000	0.74099	TTG		0.438	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		3	80	0	0	0	0	3	80				
BAZ2B	29994	broad.mit.edu	37	2	160229587	160229587	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:160229587C>T	ENST00000392783.2	-	27	4677	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	BAZ2B_ENST00000355831.2_Silent_p.G1360G|BAZ2B_ENST00000392782.1_Silent_p.G1358G|BAZ2B_ENST00000343439.5_Silent_p.G1294G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTACAAAAATCCCCCCACATT	0.403																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(4180-4182)GGG>GGA		bromodomain adjacent to zinc finger domain, 2B							87.0	79.0	81.0					2																	160229587		1839	4088	5927	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160229587C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4182G>A	2.37:g.160229587C>T						BAZ2B_uc002uap.2_Silent_p.G1358G	p.G1394G	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			27	4534	-			1394					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.4182G>A	CCDS2209.2																																																																																				0.403	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			4	49	0	0	0	0	4	49				
LRP2	4036	broad.mit.edu	37	2	170050332	170050332	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:170050332C>G	ENST00000263816.3	-	47	9054	c.8769G>C	c.(8767-8769)tgG>tgC	p.W2923C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2923	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CGTCACAGATCCATTCGCTTG	0.463																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8767-8769)TGG>TGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						245.0	210.0	222.0					2																	170050332		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050332C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8769G>C	2.37:g.170050332C>G	ENSP00000263816:p.Trp2923Cys						p.W2923C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	47	8982	-			2923			LDL-receptor class A 21.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8769G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028344	0.75390	.	.	ENSG00000081479	ENST00000263816	D	0.96300	-3.97	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.97240	3.965	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99094	1.0841	10	0.87932	D	0	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2923	P98164	LRP2_HUMAN	C	2923	ENSP00000263816:W2923C	ENSP00000263816:W2923C	W	-	3	0	LRP2	169758578	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.625000	0.83145	2.778000	0.95560	0.655000	0.94253	TGG		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	98	0	0	0	0	5	98				
NAB1	4664	broad.mit.edu	37	2	191524404	191524404	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:191524404G>A	ENST00000337386.5	+	4	963	c.502G>A	c.(502-504)Gag>Aag	p.E168K	NAB1_ENST00000409641.1_Missense_Mutation_p.E168K|NAB1_ENST00000409581.1_Missense_Mutation_p.E168K|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000357215.5_Missense_Mutation_p.E168K	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	168					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCATGCCACTGAGAGCGAGCA	0.627																																						uc002usb.2		NA																	0					0						c.(502-504)GAG>AAG		NGFI-A binding protein 1							41.0	42.0	42.0					2																	191524404		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524404G>A		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.502G>A	2.37:g.191524404G>A	ENSP00000336894:p.Glu168Lys					NAB1_uc010fsc.2_Missense_Mutation_p.E168K|NAB1_uc010fsd.2_Missense_Mutation_p.E168K|NAB1_uc002usc.2_Missense_Mutation_p.E168K|NAB1_uc010zgh.1_Missense_Mutation_p.E168K	p.E168K	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	1074	+			168					O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.502G>A	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164247	0.57476	.	.	ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641	.	.	.	5.51	5.51	0.81932	NAB co-repressor, domain (1);	0.150248	0.64402	D	0.000016	T	0.51278	0.1665	L	0.44542	1.39	0.80722	D	1	B;B;B	0.34290	0.447;0.0;0.0	B;B;B	0.30572	0.117;0.003;0.002	T	0.49495	-0.8934	9	0.38643	T	0.18	-10.3682	18.5908	0.91212	0.0:0.0:1.0:0.0	.	168;168;168	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	K	168	.	ENSP00000336894:E168K	E	+	1	0	NAB1	191232649	1.000000	0.71417	0.839000	0.33178	0.719000	0.41307	6.495000	0.73665	2.873000	0.98535	0.561000	0.74099	GAG		0.627	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		7	40	0	0	0	0	7	40				
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:202151270C>T	ENST00000432109.2	+	10	1582	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q524*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	1	Substitution - Nonsense(1)		breast(1)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1393-1395)CAG>TAG		caspase 8 isoform B precursor							205.0	182.0	190.0					2																	202151270		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202151270C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1393C>T	2.37:g.202151270C>T	ENSP00000412523:p.Gln465*	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Nonsense_Mutation_p.Q482*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q524*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q381*	p.Q465*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			10	1602	+			465					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1393C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833399	0.50951	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.86	5.86	0.93980	.	0.478710	0.24200	N	0.040632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	.	.	.	X	450;381;465;482;524;450;244	.	ENSP00000264274:Q381X	Q	+	1	0	CASP8	201859515	0.797000	0.28877	0.987000	0.45799	0.013000	0.08279	1.536000	0.36072	2.759000	0.94783	0.650000	0.86243	CAG		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		7	40	0	0	0	0	7	40				
WDR12	55759	broad.mit.edu	37	2	203772641	203772641	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:203772641G>C	ENST00000261015.4	-	2	832	c.83C>G	c.(82-84)tCt>tGt	p.S28C	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GGCAATTTCAGAGGCAGCAGG	0.373																																						uc002uzl.2		NA																	0					0						c.(82-84)TCT>TGT		WD repeat domain 12 protein							151.0	136.0	141.0					2																	203772641		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203772641G>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.83C>G	2.37:g.203772641G>C	ENSP00000261015:p.Ser28Cys					WDR12_uc010ftt.2_Missense_Mutation_p.S28C	p.S28C	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			2	833	-			28						Missense_Mutation	SNP	ENST00000261015.4	37	c.83C>G	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394058	0.83011	.	.	ENSG00000138442	ENST00000261015	T	0.56103	0.48	5.18	5.18	0.71444	NLE (1);	0.049604	0.85682	D	0.000000	T	0.66046	0.2750	M	0.77616	2.38	0.54753	D	0.999986	B;B	0.26041	0.14;0.14	B;B	0.40534	0.332;0.332	T	0.67589	-0.5632	10	0.59425	D	0.04	-5.9934	18.6407	0.91394	0.0:0.0:1.0:0.0	.	28;28	Q53T99;Q9GZL7	.;WDR12_HUMAN	C	28	ENSP00000261015:S28C	ENSP00000261015:S28C	S	-	2	0	WDR12	203480886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.908000	0.92640	2.555000	0.86185	0.591000	0.81541	TCT		0.373	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		3	38	0	0	0	0	3	38				
SMARCAL1	50485	broad.mit.edu	37	2	217279568	217279568	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:217279568C>T	ENST00000357276.4	+	3	471	c.141C>T	c.(139-141)ttC>ttT	p.F47F	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.F47F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	47					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCAACCCATTCCAGGCCAAGC	0.507									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(139-141)TTC>TTT		SWI/SNF-related matrix-associated							115.0	129.0	124.0					2																	217279568		2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279568C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.141C>T	2.37:g.217279568C>T						SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.F47F|SMARCAL1_uc010fvg.2_Silent_p.F47F	p.F47F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	471	+		Renal(323;0.0458)	47					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.141C>T	CCDS2403.1																																																																																				0.507	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			14	181	0	0	0	0	14	181				
COL6A3	1293	broad.mit.edu	37	2	238283539	238283539	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr2:238283539G>A	ENST00000295550.4	-	8	3647	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	COL6A3_ENST00000347401.3_Silent_p.V864V|COL6A3_ENST00000346358.4_Silent_p.V865V|COL6A3_ENST00000392004.3_Silent_p.V859V|COL6A3_ENST00000472056.1_Silent_p.V458V|COL6A3_ENST00000409809.1_Silent_p.V859V|COL6A3_ENST00000353578.4_Silent_p.V859V|COL6A3_ENST00000392003.2_Silent_p.V658V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1065	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCCACGCGGACCCGGTCCT	0.592																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3193-3195)GTC>GTT		alpha 3 type VI collagen isoform 1 precursor							59.0	59.0	59.0					2																	238283539		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283539G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3195C>T	2.37:g.238283539G>A						COL6A3_uc002vwo.2_Silent_p.V859V|COL6A3_uc010znj.1_Silent_p.V458V|COL6A3_uc002vwq.2_Silent_p.V859V|COL6A3_uc002vwr.2_Silent_p.V658V	p.V1065V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3480	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1065			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3195C>T	CCDS33412.1																																																																																				0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	79	0	0	0	0	9	79				
ITPA	3704	broad.mit.edu	37	20	3194643	3194643	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:3194643G>A	ENST00000380113.3	+	4	394	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ITPA_ENST00000399838.3_Missense_Mutation_p.V27M|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Missense_Mutation_p.V51M	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						ACAGGGGCCCGTGCTGGTTGA	0.627																																						uc002wid.2		NA																	0				ovary(1)	1						c.(202-204)GTG>ATG		inosine triphosphatase isoform a							166.0	132.0	144.0					20																	3194643		2203	4300	6503	SO:0001583	missense	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3194643G>A	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.202G>A	20.37:g.3194643G>A	ENSP00000369456:p.Val68Met					ITPA_uc002wie.2_Missense_Mutation_p.V51M|ITPA_uc002wif.2_RNA	p.V68M	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN			4	344	+			68						Missense_Mutation	SNP	ENST00000380113.3	37	c.202G>A	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863627	0.71949	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90532	0.7033	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.94005	0.7279	9	0.87932	D	0	.	14.5012	0.67722	0.0:0.0:1.0:0.0	.	51;68	B2BCH7;Q9BY32	.;ITPA_HUMAN	M	68;51;27	.	ENSP00000369456:V68M	V	+	1	0	ITPA	3142643	1.000000	0.71417	0.312000	0.25196	0.688000	0.40055	7.546000	0.82137	2.492000	0.84095	0.655000	0.94253	GTG		0.627	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			6	89	0	0	0	0	6	89				
CEP250	11190	broad.mit.edu	37	20	34091328	34091328	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr20:34091328G>C	ENST00000397527.1	+	30	5851	c.5131G>C	c.(5131-5133)Gag>Cag	p.E1711Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1655Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1711	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAACGGGCAGAGGAAGGGAA	0.582																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(5131-5133)GAG>CAG		centrosomal protein 2							100.0	97.0	98.0					20																	34091328		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091328G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5131G>C	20.37:g.34091328G>C	ENSP00000380661:p.Glu1711Gln					CEP250_uc010zve.1_Missense_Mutation_p.E1079Q	p.E1711Q	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	5802	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1711			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5131G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481139	0.44147	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.51817	2.78;2.76;0.69	4.51	4.51	0.55191	.	0.095808	0.45867	D	0.000335	T	0.45736	0.1357	L	0.32530	0.975	0.28961	N	0.889836	D	0.56287	0.975	P	0.50231	0.635	T	0.44817	-0.9303	10	0.52906	T	0.07	.	12.85	0.57852	0.0:0.1642:0.8358:0.0	.	1711	Q9BV73	CP250_HUMAN	Q	1711;1655;199	ENSP00000380661:E1711Q;ENSP00000341541:E1655Q;ENSP00000395992:E199Q	ENSP00000341541:E1655Q	E	+	1	0	CEP250	33554742	0.994000	0.37717	0.998000	0.56505	0.972000	0.66771	2.359000	0.44142	2.352000	0.79861	0.455000	0.32223	GAG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		6	122	0	0	0	0	6	122				
HMGXB4	10042	broad.mit.edu	37	22	35658315	35658315	+	Splice_Site	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:35658315G>C	ENST00000216106.5	+	2	60		c.e2-1		HMGXB4_ENST00000444518.2_Splice_Site	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4						endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTTTCTCAGACCTGGTCCT	0.512																																						uc003anl.2		NA																	0				breast(1)|skin(1)	2						c.e2-1		high-mobility group protein 2-like 1							67.0	64.0	65.0					22																	35658315		692	1591	2283	SO:0001630	splice_region_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35658315G>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.-68-1G>C	22.37:g.35658315G>C						HMGXB4_uc011amh.1_Intron|HMGXB4_uc003ank.2_Splice_Site		NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			2	107	+								O75672|O75673|Q9UMT5	Splice_Site	SNP	ENST00000216106.5	37	c.-67_splice	CCDS33641.1																																																																																				0.512	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	Intron	11	119	0	0	0	0	11	119				
PACSIN2	11252	broad.mit.edu	37	22	43272940	43272940	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:43272940C>T	ENST00000263246.3	-	9	1306	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000403744.3_Missense_Mutation_p.D369N|PACSIN2_ENST00000402229.1_Missense_Mutation_p.D369N|PACSIN2_ENST00000337959.4_Intron	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	369					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGCCCGTGTCGTCCTCATCC	0.567																																						uc010gzg.2		NA																	0					0						c.(1105-1107)GAC>AAC		protein kinase C and casein kinase substrate in							202.0	230.0	220.0					22																	43272940		2151	4241	6392	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272940C>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1105G>A	22.37:g.43272940C>T	ENSP00000263246:p.Asp369Asn					PACSIN2_uc003bdg.3_Missense_Mutation_p.D369N|PACSIN2_uc003bde.3_Missense_Mutation_p.D369N|PACSIN2_uc003bdf.3_Intron	p.D369N	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			9	1327	-		Glioma(61;0.222)	369					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.1105G>A	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436194	0.62955	.	.	ENSG00000100266	ENST00000263246;ENST00000403744;ENST00000402229	T;T;T	0.22743	1.94;1.94;1.94	4.89	3.88	0.44766	Src homology-3 domain (1);	0.234980	0.44097	D	0.000489	T	0.10680	0.0261	L	0.29908	0.895	0.80722	D	1	P	0.50066	0.931	B	0.30401	0.115	T	0.14364	-1.0475	10	0.10902	T	0.67	-9.2558	13.3271	0.60465	0.0:0.9232:0.0:0.0768	.	369	Q9UNF0	PACN2_HUMAN	N	369	ENSP00000263246:D369N;ENSP00000385372:D369N;ENSP00000385040:D369N	ENSP00000263246:D369N	D	-	1	0	PACSIN2	41602884	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.929000	0.70096	1.224000	0.43551	0.561000	0.74099	GAC		0.567	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		12	164	0	0	0	0	12	164				
PLXNB2	23654	broad.mit.edu	37	22	50728422	50728422	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr22:50728422C>T	ENST00000449103.1	-	3	732	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E198K			O15031	PLXB2_HUMAN	plexin B2	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTAGGCTTCAAAGGCCTCC	0.607																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(592-594)GAA>AAA		plexin B2 precursor							80.0	89.0	86.0					22																	50728422		2188	4269	6457	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728422C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.592G>A	22.37:g.50728422C>T	ENSP00000409171:p.Glu198Lys						p.E198K	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	698	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	198			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.592G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398620	0.62177	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.12147	2.71;2.71;2.71	4.51	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000035	T	0.18467	0.0443	L	0.40543	1.245	0.46927	D	0.999252	P	0.37548	0.599	P	0.48334	0.574	T	0.01613	-1.1312	10	0.06891	T	0.86	.	17.3973	0.87449	0.0:1.0:0.0:0.0	.	198	O15031	PLXB2_HUMAN	K	198	ENSP00000409171:E198K;ENSP00000352288:E198K;ENSP00000392620:E198K	ENSP00000352288:E198K	E	-	1	0	PLXNB2	49070549	0.998000	0.40836	0.997000	0.53966	0.326000	0.28443	4.364000	0.59479	2.335000	0.79485	0.462000	0.41574	GAA		0.607	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		5	57	0	0	0	0	5	57				
TREX1	11277	broad.mit.edu	37	3	48508971	48508971	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:48508971G>A	ENST00000422277.2	+	1	1743	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	TREX1_ENST00000444177.1_Missense_Mutation_p.G296E|TREX1_ENST00000456089.1_Missense_Mutation_p.G167E|TREX1_ENST00000433541.1_Missense_Mutation_p.G167E|TREX1_ENST00000296443.9_Missense_Mutation_p.G306E|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Missense_Mutation_p.G306E	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	361	Interaction with UBQLN1.|Necessary for cytoplasmic retention. {ECO:0000250}.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.		G -> A (in SLE). {ECO:0000269|PubMed:17660818}.		cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACACTGTATGGACTATCCCTG	0.592																																						uc003ctj.2		NA																	0					0	GRCh37	CM074610	TREX1	M		c.(1081-1083)GGA>GAA	Direct_reversal_of_damage|Editing_and_processing_nucleases	three prime repair exonuclease 1 isoform b							38.0	43.0	41.0					3																	48508971		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508971G>A	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.1082G>A	3.37:g.48508971G>A	ENSP00000390478:p.Gly361Glu					TREX1_uc010hjy.2_Missense_Mutation_p.G306E|TREX1_uc003ctk.2_Missense_Mutation_p.G167E|TREX1_uc010hjz.2_Missense_Mutation_p.G306E|TREX1_uc010hka.2_Missense_Mutation_p.G361E	p.G361E	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	2339	+			361		G -> A (in systemic lupus erythematosus).			B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.1082G>A	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595891	0.46318	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.55413	1.23;0.52;1.23;1.17;1.24;0.52	4.45	2.62	0.31277	.	.	.	.	.	T	0.47173	0.1431	M	0.63428	1.95	0.26211	N	0.979293	B	0.14438	0.01	B	0.15052	0.012	T	0.47774	-0.9091	9	0.87932	D	0	.	5.8779	0.18838	0.1055:0.1957:0.6988:0.0	.	361	Q9NSU2	TREX1_HUMAN	E	306;167;306;361;296;167	ENSP00000296443:G306E;ENSP00000412404:G167E;ENSP00000392569:G306E;ENSP00000390478:G361E;ENSP00000415972:G296E;ENSP00000411331:G167E	ENSP00000296443:G306E	G	+	2	0	TREX1	48483975	1.000000	0.71417	0.932000	0.37286	0.199000	0.23934	1.902000	0.39848	0.471000	0.27319	0.563000	0.77884	GGA		0.592	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		6	59	0	0	0	0	6	59				
DALRD3	55152	broad.mit.edu	37	3	49053656	49053656	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:49053656C>G	ENST00000341949.4	-	9	1270	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	DALRD3_ENST00000441576.2_Missense_Mutation_p.E422Q|DALRD3_ENST00000313778.5_Missense_Mutation_p.E255Q|DALRD3_ENST00000440857.1_Missense_Mutation_p.E255Q|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000395462.4_Missense_Mutation_p.E255Q	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	422					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.E255*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGACCTTGTTCCATACTACAC	0.502																																						uc003cvk.1		NA																	1	Substitution - Nonsense(1)		skin(1)		0						c.(1264-1266)GAA>CAA		DALR anticodon binding domain containing 3							110.0	100.0	104.0					3																	49053656		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053656C>G	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1264G>C	3.37:g.49053656C>G	ENSP00000344989:p.Glu422Gln					DALRD3_uc003cvl.1_Missense_Mutation_p.E422Q|DALRD3_uc003cvm.1_Missense_Mutation_p.E255Q|DALRD3_uc010hko.1_Missense_Mutation_p.E255Q|DALRD3_uc011bca.1_Missense_Mutation_p.E422Q	p.E422Q	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1284	-			422					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.1264G>C	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.200859|4.200859	0.79015|0.79015	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778|ENST00000438585	T;T;T;T;T|.	0.76968|.	0.74;-1.06;-1.06;0.77;-1.06|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);|.	0.153629|.	0.56097|.	D|.	0.000022|.	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.996;0.998;0.996;0.999|.	D;D;D;D|.	0.72075|.	0.919;0.962;0.919;0.976|.	T|T	0.75651|0.75651	-0.3244|-0.3244	10|5	0.48119|.	T|.	0.1|.	-7.162|-7.162	18.2115|18.2115	0.89872|0.89872	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	422;255;422;422|.	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6|.	.;.;.;DALD3_HUMAN|.	Q|A	422;422;255;255;255|68	ENSP00000410623:E422Q;ENSP00000344989:E422Q;ENSP00000378846:E255Q;ENSP00000403770:E255Q;ENSP00000323265:E255Q|.	ENSP00000323265:E255Q|.	E|G	-|-	1|2	0|0	DALRD3|DALRD3	49028660|49028660	0.999000|0.999000	0.42202|0.42202	0.712000|0.712000	0.30502|0.30502	0.927000|0.927000	0.56198|0.56198	2.279000|2.279000	0.43435|0.43435	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.502	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		6	67	0	0	0	0	6	67				
RASSF1	11186	broad.mit.edu	37	3	50369058	50369058	+	Missense_Mutation	SNP	C	C	T	rs148222115		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:50369058C>T	ENST00000357043.2	-	4	739	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	RASSF1_ENST00000359365.4_Missense_Mutation_p.R231Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R161Q|RASSF1_ENST00000395126.3_Missense_Mutation_p.R80Q					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAGAACTTTCGCAGCAGGGC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21553	0.0		0.0	False		,,,				2504	0.0					uc003dad.1		NA																	0				ovary(1)|skin(1)	2						c.(703-705)CGA>CAA		Ras association domain family 1 isoform D		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	79.0	85.0	83.0		239,692,239,482,704	4.6	1.0	3	dbSNP_134	83	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense,missense,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170712.2,NM_170713.2,NM_170714.1	43,43,43,43,43	0,11,6492	TT,TC,CC		0.093,0.0681,0.0846	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	80/190,231/341,80/190,161/271,235/345	50369058	11,12995	2203	4300	6503	SO:0001583	missense	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50369058C>T	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.704G>A	3.37:g.50369058C>T	ENSP00000349547:p.Arg235Gln					RASSF1_uc003daa.1_Missense_Mutation_p.R80Q|RASSF1_uc003dab.1_Missense_Mutation_p.R161Q|RASSF1_uc003dac.2_Missense_Mutation_p.R80Q|RASSF1_uc003dae.1_Missense_Mutation_p.R231Q|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R80Q	p.R235Q	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	835	-			235			Ras-associating.			Missense_Mutation	SNP	ENST00000357043.2	37	c.704G>A	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536341	0.65085	6.81E-4	9.3E-4	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.47	4.58	0.56647	Ras-association (3);	0.184741	0.48767	D	0.000164	T	0.16085	0.0387	N	0.13003	0.285	0.45172	D	0.998183	P;D;B	0.55800	0.762;0.973;0.41	B;P;B	0.49752	0.203;0.621;0.225	T	0.04467	-1.0949	10	0.38643	T	0.18	-26.2685	14.7762	0.69734	0.0:0.8545:0.1455:0.0	.	231;235;161	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	Q	161;80;235;231	ENSP00000333327:R161Q;ENSP00000378558:R80Q;ENSP00000349547:R235Q;ENSP00000352323:R231Q	ENSP00000333327:R161Q	R	-	2	0	RASSF1	50344062	0.957000	0.32711	0.997000	0.53966	0.973000	0.67179	2.181000	0.42547	1.265000	0.44215	0.462000	0.41574	CGA		0.597	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			11	77	0	0	0	0	11	77				
PRICKLE2	166336	broad.mit.edu	37	3	64145632	64145632	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:64145632C>T	ENST00000295902.6	-	4	965	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G183E	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	127					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAAATAGCTCCTGTCATGGT	0.483																																						uc003dmf.2		NA																	0				ovary(4)|skin(1)	5						c.(379-381)GGA>GAA		prickle-like 2							147.0	148.0	148.0					3																	64145632		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64145632C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.380G>A	3.37:g.64145632C>T	ENSP00000295902:p.Gly127Glu						p.G127E	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	4	966	-		Lung NSC(201;0.136)	127					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.380G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431282	0.83776	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	T;T	0.77098	0.17;-1.07	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.78355	0.4270	L	0.42008	1.315	0.80722	D	1	B	0.24920	0.114	B	0.37550	0.253	T	0.71823	-0.4476	10	0.35671	T	0.21	-22.7924	20.2825	0.98528	0.0:1.0:0.0:0.0	.	127	Q7Z3G6	PRIC2_HUMAN	E	127	ENSP00000295902:G127E;ENSP00000419951:G127E	ENSP00000295902:G127E	G	-	2	0	PRICKLE2	64120672	1.000000	0.71417	0.835000	0.33067	0.744000	0.42396	6.048000	0.71046	2.873000	0.98535	0.561000	0.74099	GGA		0.483	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		15	151	0	0	0	0	15	151				
GPR156	165829	broad.mit.edu	37	3	119885902	119885902	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:119885902C>T	ENST00000464295.1	-	10	2867	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	GPR156_ENST00000461057.1_Missense_Mutation_p.D804N|GPR156_ENST00000315843.3_Missense_Mutation_p.D808N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	808						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTTTCAAGTCATCTTTGAAG	0.537																																						uc011bjf.1		NA																	0				ovary(1)|skin(1)	2						c.(2422-2424)GAC>AAC		G protein-coupled receptor 156							169.0	186.0	180.0					3																	119885902		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885902C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2422G>A	3.37:g.119885902C>T	ENSP00000417261:p.Asp808Asn					GPR156_uc011bjg.1_Missense_Mutation_p.D804N	p.D808N	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	2422	-			808			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.2422G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357451	0.95854	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.63580	-0.05;-0.05;-0.01	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.70684	0.3252	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67185	-0.5734	9	.	.	.	-21.2205	18.0637	0.89384	0.0:1.0:0.0:0.0	.	804;808	E9PFZ4;Q8NFN8	.;GP156_HUMAN	N	808;808;804	ENSP00000417261:D808N;ENSP00000324553:D808N;ENSP00000418758:D804N	.	D	-	1	0	GPR156	121368592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.254000	0.65457	2.826000	0.97356	0.655000	0.94253	GAC		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		9	300	0	0	0	0	9	300				
MYLK	4638	broad.mit.edu	37	3	123452808	123452808	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:123452808G>A	ENST00000475616.1	-	7	1034	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	MYLK_ENST00000359169.1_Silent_p.I345I|MYLK_ENST00000360772.3_Silent_p.I345I|MYLK_ENST00000360304.3_Silent_p.I345I|MYLK_ENST00000346322.5_Silent_p.I345I			Q15746	MYLK_HUMAN	myosin light chain kinase	345					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGCAGGGTGATGGAGCTGG	0.637																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(1033-1035)ATC>ATT		myosin light chain kinase isoform 1							66.0	72.0	70.0					3																	123452808		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452808G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1035C>T	3.37:g.123452808G>A						MYLK_uc011bjw.1_Silent_p.I345I|MYLK_uc003egp.2_Silent_p.I345I|MYLK_uc003egq.2_Silent_p.I345I|MYLK_uc003egr.2_Silent_p.I345I|MYLK_uc003egs.2_Silent_p.I169I	p.I345I	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1317	-		Lung NSC(201;0.0496)	345					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.1035C>T	CCDS46896.1																																																																																				0.637	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		7	116	0	0	0	0	7	116				
SEC61A1	29927	broad.mit.edu	37	3	127786876	127786876	+	Missense_Mutation	SNP	G	G	C	rs202044086		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:127786876G>C	ENST00000243253.3	+	11	1402	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D	SEC61A1_ENST00000424880.2_Missense_Mutation_p.E286D|SEC61A1_ENST00000464451.1_Missense_Mutation_p.E412D|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GCCACCGAGAGACCTCCATGG	0.572											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ekb.2		NA																	0				ovary(1)	1						c.(1216-1218)GAG>GAC		Sec61 alpha 1 subunit							91.0	84.0	86.0					3																	127786876		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786876G>C	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1218G>C	3.37:g.127786876G>C	ENSP00000243253:p.Glu406Asp		OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1559	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.E353D|SEC61A1_uc003ekd.2_Missense_Mutation_p.E286D|SEC61A1_uc003ekg.2_Missense_Mutation_p.E100D	p.E406D	NM_013336	NP_037468	P61619	S61A1_HUMAN			11	1402	+			406			Cytoplasmic (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1218G>C	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	4.715	0.132871	0.09032	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.45	-4.14	0.03892	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	N	0.25031	0.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08493	-1.0719	9	0.13853	T	0.58	.	5.3369	0.15963	0.4956:0.0:0.2872:0.2172	.	406	P61619	S61A1_HUMAN	D	412;406;286	.	ENSP00000243253:E406D	E	+	3	2	SEC61A1	129269566	1.000000	0.71417	0.666000	0.29783	0.431000	0.31685	1.577000	0.36515	-0.813000	0.04357	-0.894000	0.02916	GAG		0.572	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		3	74	0	0	0	0	3	74				
ACAD9	28976	broad.mit.edu	37	3	128631364	128631364	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:128631364C>G	ENST00000308982.7	+	18	1861	c.1780C>G	c.(1780-1782)Cta>Gta	p.L594V	KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	594						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAGAAAACCTAGATGAGCA	0.502																																						uc003ela.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1780-1782)CTA>GTA		acyl-Coenzyme A dehydrogenase family, member 9							87.0	75.0	79.0					3																	128631364		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128631364C>G	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1780C>G	3.37:g.128631364C>G	ENSP00000312618:p.Leu594Val					KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.L471V|ACAD9_uc003elb.2_Missense_Mutation_p.L471V|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.L246V|uc003elf.1_Intron	p.L594V	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			18	1982	+			594					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1780C>G	CCDS3053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.437898|1.437898	0.25900|0.25900	.|.	.|.	ENSG00000177646|ENSG00000177646	ENST00000308982;ENST00000334167|ENST00000406840	D|.	0.84298|.	-1.83|.	5.47|5.47	-0.414|-0.414	0.12359|0.12359	.|.	0.356522|.	0.28630|.	N|.	0.014663|.	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	0.999997|0.999997	B|.	0.25441|.	0.126|.	B|.	0.18263|.	0.021|.	T|T	0.47861|0.47861	-0.9084|-0.9084	10|6	0.09843|0.87932	T|D	0.71|0	.|.	1.8444|1.8444	0.03156|0.03156	0.1765:0.4768:0.1184:0.2283|0.1765:0.4768:0.1184:0.2283	.|.	594|.	Q9H845|.	ACAD9_HUMAN|.	V|R	594;461|70	ENSP00000312618:L594V|.	ENSP00000312618:L594V|ENSP00000384784:P70R	L|P	+|+	1|2	2|0	ACAD9|ACAD9	130114054|130114054	0.774000|0.774000	0.28592|0.28592	0.053000|0.053000	0.19242|0.19242	0.994000|0.994000	0.84299|0.84299	0.538000|0.538000	0.23160|0.23160	-0.127000|-0.127000	0.11661|0.11661	0.591000|0.591000	0.81541|0.81541	CTA|CCT		0.502	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		12	57	0	0	0	0	12	57				
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T	rs535340588	byFrequency	TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000392912.2_Missense_Mutation_p.A357T|HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000494055.1_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343													C|||	3	0.000599042	0.0	0.0	5008	,	,		17008	0.0		0.0	False		,,,				2504	0.0031					uc003ewq.1		NA																	0				ovary(1)	1						c.(1069-1071)GCA>ACA		helicase-like transcription factor							100.0	102.0	101.0					3																	148781309		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148781309C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1069G>A	3.37:g.148781309C>T	ENSP00000308944:p.Ala357Thr					HLTF_uc003ewr.1_Missense_Mutation_p.A357T|HLTF_uc003ews.1_Missense_Mutation_p.A357T|HLTF_uc010hve.1_Missense_Mutation_p.A357T	p.A357T	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	1287	-			357					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1069G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	7.152	0.583976	0.13749	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.86	2.06	0.26882	DEAD-like helicase (1);	.	.	.	.	T	0.75657	0.3879	N	0.19112	0.55	0.22017	N	0.999415	B;B;B	0.19706	0.038;0.038;0.038	B;B;B	0.16289	0.015;0.008;0.015	T	0.57831	-0.7743	9	0.13470	T	0.59	-10.298	3.6234	0.08104	0.137:0.5841:0.1323:0.1466	.	357;357;357	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	357;357;357;357;354;354	ENSP00000420745:A357T;ENSP00000308944:A357T;ENSP00000376644:A357T;ENSP00000420429:A357T	ENSP00000308944:A357T	A	-	1	0	HLTF	150263999	0.094000	0.21725	0.839000	0.33178	0.444000	0.32077	0.253000	0.18296	0.167000	0.19631	0.650000	0.86243	GCA		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			5	58	0	0	0	0	5	58				
SMC4	10051	broad.mit.edu	37	3	160149430	160149430	+	Splice_Site	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:160149430G>A	ENST00000357388.3	+	21	3565		c.e21-1		SMC4_ENST00000360111.2_Splice_Site|SMC4_ENST00000462787.1_Splice_Site|SMC4_ENST00000469762.1_Splice_Site|SMC4_ENST00000344722.5_Splice_Site|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4						kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAACTTTTAGATTTCAAAAA	0.313																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.e21-1		SMC4 structural maintenance of chromosomes							36.0	42.0	40.0					3																	160149430		2199	4298	6497	SO:0001630	splice_region_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149430G>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3115-1G>A	3.37:g.160149430G>A						IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Splice_Site_p.I1014_splice|SMC4_uc003fdj.2_Splice_Site_p.I1039_splice|SMC4_uc010hwd.2_Splice_Site_p.I981_splice|SMC4_uc003fdl.2_Splice_Site_p.I742_splice	p.I1039_splice	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3228	+								A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Splice_Site	SNP	ENST00000357388.3	37	c.3115_splice	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124756	0.77436	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMC4	161632124	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.051000	0.93849	2.941000	0.99782	0.655000	0.94253	.		0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Intron	4	66	0	0	0	0	4	66				
TTC14	151613	broad.mit.edu	37	3	180321060	180321060	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr3:180321060G>A	ENST00000296015.4	+	3	567	c.435G>A	c.(433-435)ttG>ttA	p.L145L	TTC14_ENST00000382584.4_Silent_p.L145L|TTC14_ENST00000412756.2_Silent_p.L145L|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	145	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.L145F(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCATGGTGTTGATCTGTTTAG	0.373																																						uc003fkk.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(433-435)TTG>TTA		tetratricopeptide repeat domain 14 isoform a							217.0	204.0	208.0					3																	180321060		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180321060G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.435G>A	3.37:g.180321060G>A						TTC14_uc003fkl.2_Silent_p.L145L|TTC14_uc003fkm.2_Silent_p.L145L	p.L145L	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		3	567	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		145			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.435G>A	CCDS3237.1																																																																																				0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	88	0	0	0	0	5	88				
FGFR3	2261	broad.mit.edu	37	4	1801486	1801486	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:1801486C>T	ENST00000260795.2	+	3	494	c.392C>T	c.(391-393)tCg>tTg	p.S131L	FGFR3_ENST00000340107.4_Missense_Mutation_p.S131L|FGFR3_ENST00000412135.2_Missense_Mutation_p.S131L|FGFR3_ENST00000440486.2_Missense_Mutation_p.S131L|FGFR3_ENST00000481110.2_Missense_Mutation_p.S131L|FGFR3_ENST00000352904.1_Missense_Mutation_p.S131L			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	131					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCTCCATCCTCGGGAGATGAC	0.677		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0		p.S131L(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(391-393)TCG>TTG		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						75.0	61.0	66.0					4																	1801486		2198	4298	6496	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1801486C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.392C>T	4.37:g.1801486C>T	ENSP00000260795:p.Ser131Leu					FGFR3_uc003gdu.2_Missense_Mutation_p.S131L|FGFR3_uc003gds.3_Missense_Mutation_p.S131L|FGFR3_uc003gdq.3_Missense_Mutation_p.S131L|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	p.S131L	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		4	648	+		Breast(71;0.212)|all_epithelial(65;0.241)	131			Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.392C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.906744	0.33628	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;T;T;T;T;T	0.81579	-1.51;-1.25;-1.26;-1.3;-1.26;-1.3	3.57	2.72	0.32119	.	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	M	0.79123	2.44	0.22601	N	0.99894	D;D;D;D	0.89917	1.0;1.0;0.999;0.984	D;D;D;P	0.91635	0.996;0.999;0.954;0.736	T	0.77005	-0.2748	10	0.66056	D	0.02	.	7.5403	0.27733	0.0:0.8711:0.0:0.1289	.	131;131;131;131	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	L	131	ENSP00000420533:S131L;ENSP00000339824:S131L;ENSP00000414914:S131L;ENSP00000412903:S131L;ENSP00000260795:S131L;ENSP00000231803:S131L	ENSP00000260795:S131L	S	+	2	0	FGFR3	1771284	0.006000	0.16342	0.883000	0.34634	0.150000	0.21749	0.939000	0.28978	0.786000	0.33708	-0.350000	0.07774	TCG		0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		5	40	0	0	0	0	5	40				
CCKAR	886	broad.mit.edu	37	4	26490898	26490898	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:26490898G>T	ENST00000295589.3	-	2	515	c.321C>A	c.(319-321)ttC>ttA	p.F107L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	107					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TCCCGAAGATGAAATCCTTGA	0.562																																						uc003gse.1		NA																	0				lung(3)|pancreas(1)	4						c.(319-321)TTC>TTA		cholecystokinin A receptor	Ceruletide(DB00403)						167.0	148.0	154.0					4																	26490898		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26490898G>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.321C>A	4.37:g.26490898G>T	ENSP00000295589:p.Phe107Leu						p.F107L	NM_000730	NP_000721	P32238	CCKAR_HUMAN			2	474	-		Breast(46;0.0503)	107			Extracellular (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.321C>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200889	0.79015	.	.	ENSG00000163394	ENST00000295589	T	0.71579	-0.58	5.24	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.80616	2.505	0.53005	D	0.999967	P	0.48407	0.91	P	0.53912	0.737	T	0.82912	-0.0222	10	0.87932	D	0	.	12.5225	0.56067	0.1298:0.0:0.8702:0.0	.	107	P32238	CCKAR_HUMAN	L	107	ENSP00000295589:F107L	ENSP00000295589:F107L	F	-	3	2	CCKAR	26099996	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.870000	0.56070	2.445000	0.82738	0.561000	0.74099	TTC		0.562	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			7	115	1	0	8.13e-05	0.000305797	7	115				
PDGFRA	5156	broad.mit.edu	37	4	55144560	55144560	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:55144560C>G	ENST00000257290.5	+	15	2365	c.2034C>G	c.(2032-2034)ttC>ttG	p.F678L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.F438L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F678L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGTATTGCTTCTATGGAGATT	0.433			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		large_intestine(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2032-2034)TTC>TTG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						104.0	104.0	104.0					4																	55144560		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55144560C>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2034C>G	4.37:g.55144560C>G	ENSP00000257290:p.Phe678Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.F438L|PDGFRA_uc010igq.1_Missense_Mutation_p.F572L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.F57L	p.F678L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		15	2365	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		678			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2034C>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176319	0.38413	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88818	-2.43;-2.43	6.06	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33650	U	0.004696	D	0.83385	0.5243	N	0.04880	-0.145	0.80722	D	1	B;D	0.54397	0.285;0.966	B;P	0.55577	0.236;0.779	D	0.83734	0.0200	10	0.39692	T	0.17	.	9.7694	0.40580	0.0:0.8063:0.0:0.1937	.	678;678	P16234-3;P16234	.;PGFRA_HUMAN	L	438;678	ENSP00000423325:F438L;ENSP00000257290:F678L	ENSP00000423325:F438L	F	+	3	2	FIP1L1;PDGFRA	54839317	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.094000	0.50227	1.576000	0.49790	0.655000	0.94253	TTC		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		4	88	0	0	0	0	4	88				
UGT2B11	10720	broad.mit.edu	37	4	70074139	70074139	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:70074139G>A	ENST00000446444.1	-	3	940	c.932C>T	c.(931-933)tCa>tTa	p.S311L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	311					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTTATCACTGACCCCAGAGA	0.418																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(931-933)TCA>TTA		UDP glucuronosyltransferase 2 family,							195.0	187.0	190.0					4																	70074139		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074139G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.932C>T	4.37:g.70074139G>A	ENSP00000387683:p.Ser311Leu					uc003hei.1_Intron	p.S311L	NM_001073	NP_001064	O75310	UDB11_HUMAN			3	941	-			311					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.932C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	13.04	2.116911	0.37339	.	.	ENSG00000213759	ENST00000446444	T	0.78364	-1.17	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000004	D	0.90225	0.6944	H	0.96916	3.905	0.28520	N	0.913115	D	0.89917	1.0	D	0.79784	0.993	D	0.83580	0.0117	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.0:1.0:0.0	.	311	O75310	UDB11_HUMAN	L	311	ENSP00000387683:S311L	ENSP00000387683:S311L	S	-	2	0	UGT2B11	70108728	1.000000	0.71417	0.850000	0.33497	0.064000	0.16182	8.339000	0.90041	1.087000	0.41251	0.184000	0.17185	TCA		0.418	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		19	189	0	0	0	0	19	189				
USO1	8615	broad.mit.edu	37	4	76708301	76708301	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:76708301G>A	ENST00000538159.1	+	10	948	c.948G>A	c.(946-948)caG>caA	p.Q316Q	USO1_ENST00000514213.2_Silent_p.Q299Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	314	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTATTGCAGCAGCTTTGTA	0.468																																						uc003hiu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(940-942)CAG>CAA		USO1 homolog, vesicle docking protein							171.0	165.0	167.0					4																	76708301		1872	4114	5986	SO:0001819	synonymous_variant	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76708301G>A	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.948G>A	4.37:g.76708301G>A						USO1_uc003hiv.2_Silent_p.Q149Q|USO1_uc003hiw.2_Silent_p.Q149Q	p.Q314Q	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		9	1117	+			314			ARM 6.|Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37	c.942G>A																																																																																					0.468	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		7	104	0	0	0	0	7	104				
NAP1L5	266812	broad.mit.edu	37	4	89618637	89618637	+	Missense_Mutation	SNP	C	C	A	rs564016200		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:89618637C>A	ENST00000323061.5	-	1	749	c.269G>T	c.(268-270)cGa>cTa	p.R90L	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	90					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CTTATCGCATCGCTTCTGCAG	0.458																																						uc003hrx.2		NA																	0				skin(1)	1						c.(268-270)CGA>CTA		nucleosome assembly protein 1-like 5							90.0	97.0	95.0					4																	89618637		2202	4300	6502	SO:0001583	missense	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618637C>A	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.269G>T	4.37:g.89618637C>A	ENSP00000320488:p.Arg90Leu					HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.R90L	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	387	-			90			Potential.			Missense_Mutation	SNP	ENST00000323061.5	37	c.269G>T	CCDS3632.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614528	0.66672	.	.	ENSG00000177432	ENST00000323061;ENST00000539293	T	0.45276	0.9	3.78	0.893	0.19236	.	.	.	.	.	T	0.46249	0.1383	L	0.42245	1.32	0.27444	N	0.95364	D	0.69078	0.997	P	0.62298	0.9	T	0.32375	-0.9909	9	0.72032	D	0.01	-1.4337	3.6432	0.08174	0.0:0.5478:0.2103:0.2419	.	90	Q96NT1	NP1L5_HUMAN	L	90	ENSP00000320488:R90L	ENSP00000320488:R90L	R	-	2	0	NAP1L5	89837660	0.968000	0.33430	0.895000	0.35142	0.996000	0.88848	0.976000	0.29462	0.346000	0.23899	0.573000	0.79308	CGA		0.458	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		12	119	1	0	6.4e-05	0.000241524	12	119				
FAT4	79633	broad.mit.edu	37	4	126239528	126239528	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:126239528C>G	ENST00000394329.3	+	1	1975	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	654	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAAGCCTTCTACTCCCTGT	0.517																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1960-1962)TTC>TTG		FAT tumor suppressor homolog 4 precursor							83.0	82.0	82.0					4																	126239528		1943	4134	6077	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239528C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1962C>G	4.37:g.126239528C>G	ENSP00000377862:p.Phe654Leu						p.F654L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1962	+			654			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1962C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	3.752	-0.051351	0.07407	.	.	ENSG00000196159	ENST00000394329	T	0.01647	4.71	4.76	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.495984	0.14942	U	0.289474	T	0.02083	0.0065	N	0.10685	0.025	0.80722	D	1	B	0.29671	0.254	P	0.45099	0.469	T	0.59726	-0.7400	10	0.09084	T	0.74	.	13.1783	0.59639	0.0:0.9232:0.0:0.0768	.	654	Q6V0I7	FAT4_HUMAN	L	654	ENSP00000377862:F654L	ENSP00000377862:F654L	F	+	3	2	FAT4	126458978	0.981000	0.34729	1.000000	0.80357	0.974000	0.67602	0.396000	0.20867	1.224000	0.43551	0.655000	0.94253	TTC		0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	59	0	0	0	0	8	59				
SLC7A11	23657	broad.mit.edu	37	4	139153472	139153472	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:139153472G>C	ENST00000280612.5	-	3	748	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	157					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATTTCACATTGAATAAAAAAT	0.368																																						uc011chb.1		NA																	0				skin(1)	1						c.(469-471)CAA>GAA		solute carrier family 7, (cationic amino acid	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						70.0	69.0	70.0					4																	139153472		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139153472G>C	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.469C>G	4.37:g.139153472G>C	ENSP00000280612:p.Gln157Glu						p.Q157E	NM_014331	NP_055146	Q9UPY5	XCT_HUMAN			3	749	-	all_hematologic(180;0.166)		157			Extracellular (Potential).		A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.469C>G	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	6.002	0.368868	0.11352	.	.	ENSG00000151012	ENST00000280612	D	0.89485	-2.52	5.64	3.86	0.44501	Amino acid permease domain (1);	0.611073	0.18825	N	0.130154	T	0.70894	0.3276	N	0.01761	-0.735	0.33381	D	0.574872	B	0.02656	0.0	B	0.09377	0.004	T	0.64101	-0.6486	10	0.02654	T	1	.	15.0877	0.72167	0.0:0.0:0.7743:0.2257	.	157	Q9UPY5	XCT_HUMAN	E	157	ENSP00000280612:Q157E	ENSP00000280612:Q157E	Q	-	1	0	SLC7A11	139372922	1.000000	0.71417	0.640000	0.29408	0.991000	0.79684	6.453000	0.73488	0.697000	0.31718	0.655000	0.94253	CAA		0.368	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			10	68	0	0	0	0	10	68				
KIAA0922	23240	broad.mit.edu	37	4	154544100	154544100	+	Missense_Mutation	SNP	G	G	A	rs373363345		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:154544100G>A	ENST00000409663.3	+	29	3959	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1220N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1304N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1303	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTTCTGCTCCGATTCCAGCTC	0.562																																						uc003inm.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3907-3909)GAT>AAT		hypothetical protein LOC23240 isoform 2		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	108.0	110.0	109.0		3910,3907	5.7	0.4	4		109	0,8600		0,0,4300	no	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1304/1611,1303/1610	154544100	1,13005	2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154544100G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3907G>A	4.37:g.154544100G>A	ENSP00000386574:p.Asp1303Asn					KIAA0922_uc010ipp.2_Missense_Mutation_p.D1304N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D1072N	p.D1303N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			29	3959	+	all_hematologic(180;0.093)	Renal(120;0.118)	1303			Ser-rich.|Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3907G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257046	0.80246	2.27E-4	0.0	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.23950	2.18;1.88;2.18;1.89	5.69	5.69	0.88448	.	0.065140	0.64402	D	0.000013	T	0.50497	0.1619	L	0.58101	1.795	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.41052	-0.9530	10	0.52906	T	0.07	-19.1201	19.821	0.96592	0.0:0.0:1.0:0.0	.	1220;1304;1303	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	N	1303;1220;1304;1081	ENSP00000386574:D1303N;ENSP00000409663:D1220N;ENSP00000386787:D1304N;ENSP00000240487:D1081N	ENSP00000240487:D1081N	D	+	1	0	KIAA0922	154763550	1.000000	0.71417	0.387000	0.26183	0.436000	0.31835	7.700000	0.84556	2.683000	0.91414	0.655000	0.94253	GAT		0.562	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		14	121	0	0	0	0	14	121				
TENM3	55714	broad.mit.edu	37	4	183713749	183713749	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:183713749G>C	ENST00000511685.1	+	26	6047	c.5924G>C	c.(5923-5925)gGa>gCa	p.G1975A	TENM3_ENST00000406950.2_Missense_Mutation_p.G1975A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1975					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAAACAGCAGGAGTCCTAAAG	0.408																																						uc003ivd.1		NA																	0					0						c.(5923-5925)GGA>GCA		odz, odd Oz/ten-m homolog 3							185.0	175.0	178.0					4																	183713749		1892	4126	6018	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713749G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5924G>C	4.37:g.183713749G>C	ENSP00000424226:p.Gly1975Ala						p.G1975A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5961	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1975			Extracellular (Potential).|YD 11.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5924G>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106119	0.56291	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87966	-2.32;-2.32	4.74	4.74	0.60224	.	.	.	.	.	D	0.93818	0.8023	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.94300	0.7536	9	0.62326	D	0.03	.	18.268	0.90057	0.0:0.0:1.0:0.0	.	1975	Q9P273	TEN3_HUMAN	A	1975	ENSP00000424226:G1975A;ENSP00000385276:G1975A	ENSP00000385276:G1975A	G	+	2	0	ODZ3	183950743	1.000000	0.71417	0.446000	0.26920	0.757000	0.42996	9.567000	0.98161	2.608000	0.88229	0.591000	0.81541	GGA		0.408	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	187	0	0	0	0	10	187				
FAT1	2195	broad.mit.edu	37	4	187516868	187516868	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516868G>C	ENST00000441802.2	-	26	13322	c.13113C>G	c.(13111-13113)ttC>ttG	p.F4371L	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4371					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTCGGACTGGAAGGAGCTCA	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(13111-13113)TTC>TTG		FAT tumor suppressor 1 precursor							121.0	124.0	123.0					4																	187516868		2042	4204	6246	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187516868G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13113C>G	4.37:g.187516868G>C	ENSP00000406229:p.Phe4371Leu	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.F262L	p.F4371L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			26	13301	-			4371			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.13113C>G	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.37|17.37	3.371820|3.371820	0.61624|0.61624	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927|ENST00000512772;ENST00000507105	T|.	0.71579|.	-0.58|.	5.34|5.34	-2.62|-2.62	0.06152|0.06152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64778|0.64778	0.2629|0.2629	M|M	0.64260|0.64260	1.97|1.97	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.29955|.	0.263|.	B|.	0.26517|.	0.07|.	T|T	0.61068|0.61068	-0.7137|-0.7137	10|5	0.35671|.	T|.	0.21|.	.|.	12.1821|12.1821	0.54218|0.54218	0.4056:0.0:0.5944:0.0|0.4056:0.0:0.5944:0.0	.|.	4371|.	Q14517|.	FAT1_HUMAN|.	L|A	4371;4373;29|139	ENSP00000406229:F4371L|.	ENSP00000260147:F4373L|.	F|P	-|-	3|1	2|0	FAT1|FAT1	187753862|187753862	1.000000|1.000000	0.71417|0.71417	0.851000|0.851000	0.33527|0.33527	0.758000|0.758000	0.43043|0.43043	1.513000|1.513000	0.35823|0.35823	-0.942000|-0.942000	0.03695|0.03695	-0.142000|-0.142000	0.14014|0.14014	TTC|CCA		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	90	0	0	0	0	9	90				
FAT1	2195	broad.mit.edu	37	4	187516881	187516881	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187516881G>C	ENST00000441802.2	-	26	13309	c.13100C>G	c.(13099-13101)tCt>tGt	p.S4367C	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4367					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGAGCTCAGAGACTGCACTTC	0.517										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(13099-13101)TCT>TGT		FAT tumor suppressor 1 precursor							119.0	123.0	122.0					4																	187516881		2029	4199	6228	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187516881G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13100C>G	4.37:g.187516881G>C	ENSP00000406229:p.Ser4367Cys	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.S258C	p.S4367C	NM_005245	NP_005236	Q14517	FAT1_HUMAN			26	13288	-			4367			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.13100C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358224	0.82243	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927	T	0.76709	-1.04	5.34	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90121	0.4199	10	0.87932	D	0	.	14.2952	0.66308	0.0712:0.0:0.9288:0.0	.	4367	Q14517	FAT1_HUMAN	C	4367;4369;25	ENSP00000406229:S4367C	ENSP00000260147:S4369C	S	-	2	0	FAT1	187753875	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	9.601000	0.98297	1.484000	0.48361	0.650000	0.86243	TCT		0.517	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	90	0	0	0	0	10	90				
FAT1	2195	broad.mit.edu	37	4	187630459	187630459	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr4:187630459C>G	ENST00000441802.2	-	2	732	c.523G>C	c.(523-525)Gat>Cat	p.D175H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTCTGCATCCGTGGCGCTG	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(523-525)GAT>CAT		FAT tumor suppressor 1 precursor							170.0	175.0	173.0					4																	187630459		2171	4280	6451	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630459C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.523G>C	4.37:g.187630459C>G	ENSP00000406229:p.Asp175His	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.D175H	p.D175H	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	711	-			175			Extracellular (Potential).|Cadherin 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.523G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038803	0.75617	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.75154	-0.91;-0.91	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94541	0.7745	10	0.87932	D	0	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	175	Q14517	FAT1_HUMAN	H	175	ENSP00000406229:D175H;ENSP00000423736:D175H	ENSP00000260147:D175H	D	-	1	0	FAT1	187867453	1.000000	0.71417	0.990000	0.47175	0.952000	0.60782	7.651000	0.83577	2.704000	0.92352	0.591000	0.81541	GAT		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	162	0	0	0	0	20	162				
SLC45A2	51151	broad.mit.edu	37	5	33963899	33963899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:33963899G>C	ENST00000296589.4	-	3	931	c.785C>G	c.(784-786)tCa>tGa	p.S262*	SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.S203*|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.S262*|SLC45A2_ENST00000509381.1_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	262					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTCCATCTGATGACAATGG	0.443																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(784-786)TCA>TGA		membrane-associated transporter protein isoform							135.0	140.0	138.0					5																	33963899		2203	4300	6503	SO:0001587	stop_gained	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33963899G>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.785C>G	5.37:g.33963899G>C	ENSP00000296589:p.Ser262*					SLC45A2_uc003jie.2_Nonsense_Mutation_p.S262*|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.S262*	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	877	-			262			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000296589.4	37	c.785C>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387953	0.82902	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	.	.	.	5.7	4.75	0.60458	.	1.385440	0.04200	N	0.329821	.	.	.	.	.	.	0.21697	N	0.999584	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-18.3721	16.4079	0.83697	0.0:0.0:0.8596:0.1404	.	.	.	.	X	262;203;262;87	.	ENSP00000296589:S262X	S	-	2	0	SLC45A2	33999656	0.003000	0.15002	0.348000	0.25681	0.422000	0.31414	1.339000	0.33885	2.694000	0.91930	0.467000	0.42956	TCA		0.443	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		6	117	0	0	0	0	6	117				
CMYA5	202333	broad.mit.edu	37	5	79026056	79026056	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:79026056G>C	ENST00000446378.2	+	2	1499	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	490	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATGCTTGAGCCATCCAT	0.458																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(1468-1470)GAG>CAG		cardiomyopathy associated 5							116.0	114.0	114.0					5																	79026056		2032	4206	6238	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026056G>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1468G>C	5.37:g.79026056G>C	ENSP00000394770:p.Glu490Gln						p.E490Q	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1540	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	490			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1468G>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303798	0.60305	.	.	ENSG00000164309	ENST00000446378	T	0.61040	0.14	5.8	4.94	0.65067	.	0.000000	0.49305	D	0.000141	T	0.40979	0.1139	L	0.36672	1.1	0.09310	N	1	P	0.47302	0.893	B	0.39217	0.294	T	0.50825	-0.8782	10	0.87932	D	0	.	3.1198	0.06387	0.151:0.1392:0.5654:0.1444	.	490	Q8N3K9	CMYA5_HUMAN	Q	490	ENSP00000394770:E490Q	ENSP00000394770:E490Q	E	+	1	0	CMYA5	79061812	0.140000	0.22579	0.624000	0.29186	0.614000	0.37383	0.713000	0.25794	1.474000	0.48178	0.563000	0.77884	GAG		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	125	0	0	0	0	15	125				
SLCO4C1	353189	broad.mit.edu	37	5	101597639	101597639	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101597639G>T	ENST00000310954.6	-	5	1284	c.998C>A	c.(997-999)tCt>tAt	p.S333Y		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.S333C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAAAGCAAGAAAAAGGTAT	0.368																																						uc003knm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(997-999)TCT>TAT		solute carrier organic anion transporter family,							91.0	92.0	92.0					5																	101597639		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101597639G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.998C>A	5.37:g.101597639G>T	ENSP00000309741:p.Ser333Tyr						p.S333Y	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	5	1285	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	333			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.998C>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760983	0.69763	.	.	ENSG00000173930	ENST00000310954	T	0.80994	-1.44	5.91	4.02	0.46733	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087690	0.49916	D	0.000132	T	0.74374	0.3708	L	0.56199	1.76	0.31504	N	0.664489	B	0.22346	0.068	B	0.28553	0.091	T	0.69390	-0.5158	10	0.17369	T	0.5	.	10.5423	0.45039	0.0714:0.0:0.7972:0.1315	.	333	Q6ZQN7	SO4C1_HUMAN	Y	333	ENSP00000309741:S333Y	ENSP00000309741:S333Y	S	-	2	0	SLCO4C1	101625538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.281000	0.51685	1.431000	0.47355	0.650000	0.86243	TCT		0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		4	39	1	0	0.00024832	0.000926262	4	39				
SLCO6A1	133482	broad.mit.edu	37	5	101724493	101724493	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:101724493C>T	ENST00000506729.1	-	12	2087	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G386E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G386E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G639E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G577E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	639						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGAAGTTTCTCCTGACATTTT	0.323																																						uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1915-1917)GGA>GAA		solute carrier organic anion transporter family,							68.0	67.0	68.0					5																	101724493		2202	4296	6498	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101724493C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1916G>A	5.37:g.101724493C>T	ENSP00000421339:p.Gly639Glu					SLCO6A1_uc003kno.2_Missense_Mutation_p.G386E|SLCO6A1_uc003knp.2_Missense_Mutation_p.G639E|SLCO6A1_uc003knq.2_Missense_Mutation_p.G577E	p.G639E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	12	2088	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	639			Helical; Name=11; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1916G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198103	0.38806	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.06	-6.47	0.01902	Major facilitator superfamily domain, general substrate transporter (1);	1.767480	0.03477	N	0.214570	T	0.38321	0.1036	L	0.51422	1.61	0.09310	N	1	P;P;P	0.43633	0.763;0.813;0.695	B;P;B	0.52710	0.226;0.707;0.355	T	0.49661	-0.8916	10	0.45353	T	0.12	.	2.1418	0.03777	0.4923:0.1629:0.1945:0.1503	.	577;386;639	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	E	639;639;577;386;386	ENSP00000421339:G639E;ENSP00000369135:G639E;ENSP00000373671:G577E;ENSP00000421990:G386E;ENSP00000369138:G386E	ENSP00000369135:G639E	G	-	2	0	SLCO6A1	101752392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.467000	0.02352	-1.013000	0.03383	-0.145000	0.13849	GGA		0.323	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		5	22	0	0	0	0	5	22				
CSF2	1437	broad.mit.edu	37	5	131411512	131411512	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:131411512C>T	ENST00000296871.2	+	4	436	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	134					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTGTCATCCCCTTTGACT	0.463																																						uc003kwf.2		NA																	0					0						c.(400-402)ATC>ATT		colony stimulating factor 2 precursor	Sargramostim(DB00020)						98.0	114.0	109.0					5																	131411512		2203	4300	6503	SO:0001819	synonymous_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131411512C>T	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.402C>T	5.37:g.131411512C>T							p.I134I	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	434	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	134					Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	ENST00000296871.2	37	c.402C>T	CCDS4150.1																																																																																				0.463	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		5	115	0	0	0	0	5	115				
PCDHA9	9752	broad.mit.edu	37	5	140229699	140229699	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140229699C>T	ENST00000532602.1	+	1	2652	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A540V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.667																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1618-1620)GCG>GTG		protocadherin alpha 9 isoform 1 precursor							60.0	68.0	65.0					5																	140229699		2195	4266	6461	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229699C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1619C>T	5.37:g.140229699C>T	ENSP00000436042:p.Ala540Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A540V	p.A540V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2343	+			540			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1619C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832732	0.71258	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	3.56	2.64	0.31445	Cadherin (4);Cadherin-like (1);	0.000000	0.31519	U	0.007517	T	0.62539	0.2436	M	0.66560	2.04	0.28534	N	0.912438	D;D	0.59767	0.986;0.986	P;P	0.55749	0.783;0.704	T	0.62172	-0.6910	10	0.87932	D	0	.	12.8266	0.57723	0.0:0.8338:0.1661:0.0	.	540;540	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	540	ENSP00000436042:A540V;ENSP00000367362:A540V	ENSP00000367362:A540V	A	+	2	0	PCDHA9	140209883	0.000000	0.05858	0.999000	0.59377	0.762000	0.43233	0.144000	0.16135	0.767000	0.33267	0.306000	0.20318	GCG		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		20	154	0	0	0	0	20	154				
PCDHA13	56136	broad.mit.edu	37	5	140264038	140264038	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140264038G>A	ENST00000289272.2	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	729					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCCACCGAGGGCGCGTG	0.647																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2185-2187)GAG>AAG		protocadherin alpha 13 isoform 1 precursor							59.0	64.0	62.0					5																	140264038		2202	4299	6501	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140264038G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2185G>A	5.37:g.140264038G>A	ENSP00000289272:p.Glu729Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.E729K|PCDHA13_uc003lid.2_Missense_Mutation_p.E729K	p.E729K	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2185	+			729			Cytoplasmic (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2185G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800851	0.31869	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.13657	2.57;2.57	3.22	2.33	0.28932	.	.	.	.	.	T	0.21387	0.0515	M	0.90595	3.13	0.28266	N	0.924631	B;B;B	0.25850	0.136;0.136;0.06	B;B;B	0.23852	0.023;0.025;0.049	T	0.13980	-1.0489	9	0.27785	T	0.31	.	8.7176	0.34421	0.0953:0.1642:0.7405:0.0	.	729;729;729	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	729	ENSP00000386821:E729K;ENSP00000289272:E729K	ENSP00000289272:E729K	E	+	1	0	PCDHA13	140244222	0.288000	0.24324	0.717000	0.30585	0.134000	0.20937	0.567000	0.23608	0.883000	0.36040	0.655000	0.94253	GAG		0.647	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		6	125	0	0	0	0	6	125				
PCDHAC1	56135	broad.mit.edu	37	5	140306523	140306523	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140306523G>A	ENST00000253807.2	+	1	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G16S|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	16					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(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCTGCGGCGCTGCAGC	0.642																																						uc003lih.2		NA																	0				skin(3)|ovary(2)	5						c.(46-48)GGC>AGC		protocadherin alpha subfamily C, 1 isoform 1							115.0	137.0	130.0					5																	140306523		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140306523G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.46G>A	5.37:g.140306523G>A	ENSP00000253807:p.Gly16Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G16S	p.G16S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	222	+			16					Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.46G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065503	0.20067	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51325	0.74;0.71	5.29	3.28	0.37604	.	.	.	.	.	T	0.25680	0.0625	N	0.14661	0.345	0.09310	N	1	B;B	0.29716	0.255;0.161	B;B	0.23852	0.049;0.032	T	0.12656	-1.0539	9	0.12103	T	0.63	.	9.0714	0.36495	0.0:0.1148:0.5363:0.3489	.	16;16	Q9H158;Q9H158-2	PCDC1_HUMAN;.	S	16	ENSP00000386356:G16S;ENSP00000253807:G16S	ENSP00000253807:G16S	G	+	1	0	PCDHAC1	140286707	0.004000	0.15560	0.253000	0.24343	0.116000	0.19942	0.571000	0.23669	1.206000	0.43276	-0.310000	0.09108	GGC		0.642	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		5	47	0	0	0	0	5	47				
PCDHGA4	56111	broad.mit.edu	37	5	140734878	140734878	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:140734878G>T	ENST00000571252.1	+	1	111	c.111G>T	c.(109-111)gaG>gaT	p.E37D	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTTTGAGGAGCAGGAAG	0.632																																						uc003ljq.1		NA																	0					0						c.(109-111)GAG>GAT		protocadherin gamma subfamily A, 4 isoform 1							44.0	54.0	51.0					5																	140734878		2168	4284	6452	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734878G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.111G>T	5.37:g.140734878G>T	ENSP00000458570:p.Glu37Asp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.E37D	p.E37D	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	111	+			37			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.111G>T	CCDS58979.1																																																																																				0.632	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		10	80	1	0	7.48e-07	2.86e-06	10	80				
HIST1H2BB	3018	broad.mit.edu	37	6	26043604	26043604	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:26043604C>T	ENST00000357905.2	-	1	281	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	94					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCGTCTGAATCTCCCTGGAGG	0.562																																						uc003nfu.2		NA																	0					0						c.(280-282)GAG>GAA		histone cluster 1, H2bb							64.0	65.0	64.0					6																	26043604		2203	4300	6503	SO:0001819	synonymous_variant	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043604C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.282G>A	6.37:g.26043604C>T						HIST1H3C_uc003nfv.2_5'Flank	p.E94E	NM_021062	NP_066406	P33778	H2B1B_HUMAN			1	282	-			94					Q4KN36	Silent	SNP	ENST00000357905.2	37	c.282G>A	CCDS4575.1																																																																																				0.562	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		5	99	0	0	0	0	5	99				
PPP1R10	5514	broad.mit.edu	37	6	30571943	30571943	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:30571943C>T	ENST00000376511.2	-	14	1902	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	450	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.L450L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TATCATGGCTCAGACGCCGCG	0.562																																						uc003nqn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1348-1350)CTG>CTA		protein phosphatase 1, regulatory subunit 10							100.0	105.0	104.0					6																	30571943		2203	4300	6503	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571943C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1350G>A	6.37:g.30571943C>T						PPP1R10_uc010jsc.1_Silent_p.L104L	p.L450L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			14	1902	-			450			Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.1350G>A	CCDS4681.1																																																																																				0.562	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		11	158	0	0	0	0	11	158				
IP6K3	117283	broad.mit.edu	37	6	33693275	33693275	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:33693275C>G	ENST00000293756.4	-	5	1034	c.708G>C	c.(706-708)atG>atC	p.M236I	IP6K3_ENST00000451316.1_Missense_Mutation_p.M236I	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	236					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CACACTTCCTCATGTGGCGGG	0.632																																						uc010jvf.2		NA																	0					0						c.(706-708)ATG>ATC		inositol hexakisphosphate kinase 3							72.0	63.0	66.0					6																	33693275		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33693275C>G	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.708G>C	6.37:g.33693275C>G	ENSP00000293756:p.Met236Ile					IP6K3_uc003ofb.2_Missense_Mutation_p.M236I	p.M236I	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			6	1244	-			236					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.708G>C	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067659	0.07273	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.15834	2.39;2.39	5.71	2.51	0.30379	.	0.318068	0.31624	N	0.007326	T	0.02848	0.0085	N	0.20483	0.58	0.30166	N	0.801739	B	0.06786	0.001	B	0.08055	0.003	T	0.41963	-0.9479	10	0.29301	T	0.29	-20.3053	5.6162	0.17432	0.0:0.4463:0.3228:0.231	.	236	Q96PC2	IP6K3_HUMAN	I	236	ENSP00000398861:M236I;ENSP00000293756:M236I	ENSP00000293756:M236I	M	-	3	0	IP6K3	33801253	0.001000	0.12720	0.994000	0.49952	0.908000	0.53690	-0.070000	0.11523	0.743000	0.32719	-0.136000	0.14681	ATG		0.632	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		4	40	0	0	0	0	4	40				
DAAM2	23500	broad.mit.edu	37	6	39843215	39843215	+	Silent	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:39843215G>A	ENST00000398904.2	+	11	1454	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	DAAM2_ENST00000274867.4_Silent_p.E424E|DAAM2_ENST00000538976.1_Silent_p.E424E			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	424					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTCCCTTGGAGAACTTCAATG	0.577																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(1270-1272)GAG>GAA		dishevelled associated activator of							78.0	82.0	81.0					6																	39843215		2124	4241	6365	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39843215G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1272G>A	6.37:g.39843215G>A						DAAM2_uc010jxc.2_Silent_p.E424E|DAAM2_uc003oox.2_Silent_p.E424E	p.E424E	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			11	1428	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		424					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1272G>A	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			11	79	0	0	0	0	11	79				
CUL7	9820	broad.mit.edu	37	6	43006181	43006181	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:43006181C>T	ENST00000265348.3	-	25	4682	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.E1617K			Q14999	CUL7_HUMAN	cullin 7	1533					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACCTGGGTTCCTTGCTGCCA	0.567																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(4597-4599)GAA>AAA		cullin 7							105.0	96.0	99.0					6																	43006181		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006181C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4597G>A	6.37:g.43006181C>T	ENSP00000265348:p.Glu1533Lys					CUL7_uc010jyg.2_Missense_Mutation_p.E812K|CUL7_uc011dvb.1_Missense_Mutation_p.E1617K|CUL7_uc010jyh.2_Missense_Mutation_p.E526K|KLC4_uc003otr.1_5'Flank	p.E1533K	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		25	4900	-			1533					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4597G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107947	0.56291	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.73789	-0.78;-0.78	5.18	5.18	0.71444	Cullin, N-terminal (1);Cullin homology (1);	0.499240	0.20722	N	0.086885	T	0.73806	0.3634	L	0.59436	1.845	0.32896	D	0.512542	P;D;D;P	0.57571	0.952;0.98;0.98;0.906	P;P;P;P	0.55577	0.591;0.779;0.714;0.713	T	0.75918	-0.3148	10	0.52906	T	0.07	-19.8989	14.1513	0.65387	0.0:0.8381:0.1619:0.0	.	1617;1533;1617;1533	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	K	1533;1617	ENSP00000265348:E1533K;ENSP00000438788:E1617K	ENSP00000265348:E1533K	E	-	1	0	CUL7	43114159	0.075000	0.21258	0.999000	0.59377	0.291000	0.27294	2.649000	0.46656	2.402000	0.81655	0.655000	0.94253	GAA		0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	62	0	0	0	0	4	62				
SMAP1	60682	broad.mit.edu	37	6	71562302	71562302	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:71562302G>A	ENST00000370455.3	+	8	972	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SMAP1_ENST00000370452.3_Missense_Mutation_p.D215N|SMAP1_ENST00000316999.5_Missense_Mutation_p.D215N	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	242					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTGAACGATGATCTGGACAT	0.458																																						uc003pfr.2		NA																	0					0						c.(724-726)GAT>AAT		stromal membrane-associated GTPase-activating							163.0	140.0	148.0					6																	71562302		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71562302G>A	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.724G>A	6.37:g.71562302G>A	ENSP00000359484:p.Asp242Asn					SMAP1_uc003pfs.2_Missense_Mutation_p.D215N|SMAP1_uc010kao.2_Missense_Mutation_p.D215N|SMAP1_uc010kap.2_Missense_Mutation_p.D232N	p.D242N	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			8	972	+			242					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.724G>A	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934380	0.73442	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.25250	2.13;2.14;1.81	5.86	4.99	0.66335	.	1.000590	0.08064	N	0.998690	T	0.42017	0.1184	M	0.71036	2.16	0.80722	D	1	D;B;B;D	0.76494	0.999;0.412;0.197;0.999	D;B;B;D	0.72338	0.977;0.104;0.062;0.977	T	0.08994	-1.0695	10	0.72032	D	0.01	-25.1208	13.2615	0.60108	0.0734:0.0:0.9266:0.0	.	242;215;215;242	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	N	215;215;242	ENSP00000359481:D215N;ENSP00000313382:D215N;ENSP00000359484:D242N	ENSP00000313382:D215N	D	+	1	0	SMAP1	71619023	1.000000	0.71417	0.991000	0.47740	0.391000	0.30476	7.213000	0.77950	1.488000	0.48433	0.491000	0.48974	GAT		0.458	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		10	134	0	0	0	0	10	134				
CEP85L	387119	broad.mit.edu	37	6	118812872	118812872	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:118812872C>T	ENST00000368491.3	-	6	2035	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	CEP85L_ENST00000419517.2_Missense_Mutation_p.E472K|CEP85L_ENST00000392500.3_Missense_Mutation_p.E475K|CEP85L_ENST00000368488.5_Missense_Mutation_p.E475K|CEP85L_ENST00000360290.3_Missense_Mutation_p.E370K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	472						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTCTTCTTCTCTTCACTAAAT	0.338																																						uc003pxz.1		NA																	0				breast(1)	1						c.(1414-1416)GAG>AAG		chromosome 6 open reading frame 204 isoform a							67.0	65.0	65.0					6																	118812872		2202	4300	6502	SO:0001583	missense	387119					centrosome		g.chr6:118812872C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1414G>A	6.37:g.118812872C>T	ENSP00000357477:p.Glu472Lys					C6orf204_uc003pya.1_Missense_Mutation_p.E475K|C6orf204_uc003pyb.2_Missense_Mutation_p.E472K|C6orf204_uc011ebj.1_Missense_Mutation_p.E370K|C6orf204_uc003pyc.2_Missense_Mutation_p.E475K	p.E472K	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	6	2002	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	472			Potential.		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1414G>A	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516551	0.96402	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.40756	2.74;2.74;2.74;1.34;1.02;1.35	6.08	6.08	0.98989	.	0.050094	0.85682	D	0.000000	T	0.62901	0.2466	M	0.75777	2.31	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.999;0.997	D;D;D;D	0.79784	0.993;0.98;0.98;0.921	T	0.63651	-0.6589	10	0.87932	D	0	-23.4269	20.6634	0.99662	0.0:1.0:0.0:0.0	.	475;472;475;472	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	K	472;475;475;475;370;472	ENSP00000357477:E472K;ENSP00000357474:E475K;ENSP00000392131:E475K;ENSP00000376288:E475K;ENSP00000353434:E370K;ENSP00000393317:E472K	ENSP00000353434:E370K	E	-	1	0	C6orf204	118919565	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.798000	0.75155	2.894000	0.99253	0.655000	0.94253	GAG		0.338	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		4	21	0	0	0	0	4	21				
LAMA2	3908	broad.mit.edu	37	6	129419471	129419471	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr6:129419471C>T	ENST00000421865.2	+	4	599	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	184	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAATATTTATCCCCGCACTGG	0.448																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(550-552)CCC>TCC		laminin alpha 2 subunit isoform a precursor							89.0	85.0	86.0					6																	129419471		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419471C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.550C>T	6.37:g.129419471C>T	ENSP00000400365:p.Pro184Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.P184S	p.P184S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	655	+			184			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.550C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708427	0.89018	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75260	-0.92	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81070	-0.1099	10	0.87932	D	0	.	19.409	0.94660	0.0:1.0:0.0:0.0	.	184;184	A6NF00;P24043	.;LAMA2_HUMAN	S	184	ENSP00000400365:P184S	ENSP00000346769:P184S	P	+	1	0	LAMA2	129461164	1.000000	0.71417	0.973000	0.42090	0.917000	0.54804	7.719000	0.84751	2.672000	0.90937	0.467000	0.42956	CCC		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	68	0	0	0	0	10	68				
RAC1	5879	broad.mit.edu	37	7	6431563	6431563	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6431563A>G	ENST00000348035.4	+	3	329	c.116A>G	c.(115-117)aAt>aGt	p.N39S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.N39S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	39					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AGCTTTGACAATTATTCTGCC	0.438																																						uc003spx.2		NA																	0				lung(2)	2						c.(115-117)AAT>AGT		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						113.0	103.0	107.0					7																	6431563		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431563A>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.116A>G	7.37:g.6431563A>G	ENSP00000258737:p.Asn39Ser					RAC1_uc003spw.2_Missense_Mutation_p.N39S	p.N39S	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	357	+		Ovarian(82;0.0776)	39			Effector region (Potential).		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.116A>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444198	0.63067	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76578	-1.03;-1.03	5.29	4.11	0.48088	Small GTP-binding protein domain (1);	0.141387	0.64402	D	0.000009	D	0.83372	0.5240	L	0.58510	1.815	0.80722	D	1	P;P	0.49696	0.927;0.784	P;P	0.60236	0.871;0.532	D	0.84225	0.0463	10	0.87932	D	0	.	12.4809	0.55842	0.8599:0.1401:0.0:0.0	.	39;39	P63000;A4D2P0	RAC1_HUMAN;.	S	39	ENSP00000258737:N39S;ENSP00000348461:N39S	ENSP00000258737:N39S	N	+	2	0	RAC1	6398088	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.283000	0.95860	0.924000	0.37069	0.528000	0.53228	AAT		0.438	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		4	64	0	0	0	0	4	64				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						uc003spx.2		NA																	2	Substitution - Missense(2)		endometrium(2)	lung(2)	2						c.(475-477)GCG>GTG		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_uc003spw.2_Missense_Mutation_p.A178V	p.A159V	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	717	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		6	79	0	0	0	0	6	79				
GLI3	2737	broad.mit.edu	37	7	42084994	42084994	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:42084994T>A	ENST00000395925.3	-	6	899	c.815A>T	c.(814-816)cAt>cTt	p.H272L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	272					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCCATAGCATGAAGATATTC	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(814-816)CAT>CTT		GLI-Kruppel family member GLI3							130.0	144.0	139.0					7																	42084994		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42084994T>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.815A>T	7.37:g.42084994T>A	ENSP00000379258:p.His272Leu					GLI3_uc011kbg.1_Missense_Mutation_p.H213L	p.H272L	NM_000168	NP_000159	P10071	GLI3_HUMAN			6	906	-			272					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.815A>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357878	0.61403	.	.	ENSG00000106571	ENST00000395925	T	0.68903	-0.36	5.58	5.58	0.84498	.	0.212177	0.52532	D	0.000076	T	0.55800	0.1943	L	0.29908	0.895	0.80722	D	1	B	0.15473	0.013	B	0.17098	0.017	T	0.50634	-0.8805	10	0.24483	T	0.36	.	15.7638	0.78110	0.0:0.0:0.0:1.0	.	272	P10071	GLI3_HUMAN	L	272	ENSP00000379258:H272L	ENSP00000379258:H272L	H	-	2	0	GLI3	42051519	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.656000	0.83736	2.126000	0.65437	0.533000	0.62120	CAT		0.502	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		23	217	0	0	0	0	23	217				
DTX2	113878	broad.mit.edu	37	7	76109854	76109854	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:76109854G>T	ENST00000324432.5	+	4	538	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	DTX2_ENST00000430490.2_Missense_Mutation_p.V10L|DTX2_ENST00000307569.8_Missense_Mutation_p.V10L|DTX2_ENST00000413936.2_Missense_Mutation_p.V10L|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000472426.1_3'UTR|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000446820.2_Missense_Mutation_p.V10L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	10	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCTTCCCTGGTGCAGGTGTA	0.657																																						uc003uff.3		NA																	0				ovary(1)|skin(1)	2						c.(28-30)GTG>TTG		deltex 2 isoform a							23.0	23.0	23.0					7																	76109854		2202	4296	6498	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76109854G>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.28G>T	7.37:g.76109854G>T	ENSP00000322885:p.Val10Leu					DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Missense_Mutation_p.V10L|DTX2_uc003ufh.3_Missense_Mutation_p.V10L|DTX2_uc003ufj.3_Missense_Mutation_p.V10L	p.V10L	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			4	584	+			10			WWE 1.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.28G>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	9.870	1.198599	0.22121	.	.	ENSG00000091073	ENST00000425780;ENST00000456590;ENST00000451769;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000442516;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T	0.42900	2.75;2.75;2.75;0.96;2.75;0.97;2.75	5.35	2.21	0.28008	WWE domain (1);	0.399046	0.27549	N	0.018876	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.11329	0.006;0.005	T	0.14282	-1.0478	10	0.14252	T	0.57	-4.8237	14.0673	0.64839	0.0:0.454:0.546:0.0	.	10;10	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	L	10	ENSP00000322885:V10L;ENSP00000305242:V10L;ENSP00000390218:V10L;ENSP00000415838:V10L;ENSP00000411986:V10L;ENSP00000403342:V10L;ENSP00000392545:V10L	ENSP00000305242:V10L	V	+	1	0	AC005522.1	75947790	0.443000	0.25641	0.992000	0.48379	0.756000	0.42949	0.537000	0.23144	0.686000	0.31488	0.563000	0.77884	GTG		0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			4	31	1	0	0.00024832	0.000926262	4	31				
DMTF1	9988	broad.mit.edu	37	7	86815200	86815200	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:86815200G>A	ENST00000394703.5	+	14	1668	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	DMTF1_ENST00000413276.2_Missense_Mutation_p.E369K|DMTF1_ENST00000414194.2_Missense_Mutation_p.E103K|DMTF1_ENST00000432937.2_Missense_Mutation_p.E281K|DMTF1_ENST00000331242.7_Missense_Mutation_p.E369K	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	369	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCTGTTAGCTGAGGGATGGAG	0.393																																						uc003uih.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1105-1107)GAG>AAG		cyclin D binding myb-like transcription factor 1							254.0	224.0	234.0					7																	86815200		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86815200G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1105G>A	7.37:g.86815200G>A	ENSP00000378193:p.Glu369Lys					DMTF1_uc003uii.2_Missense_Mutation_p.E103K|DMTF1_uc003uij.2_Missense_Mutation_p.E103K|DMTF1_uc011khb.1_Missense_Mutation_p.E281K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E369K|DMTF1_uc003uin.2_Missense_Mutation_p.E103K	p.E369K	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			12	1431	+	Esophageal squamous(14;0.0058)		369			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).|Myb-like 2.		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1105G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583092	0.65992	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.45276	0.91;0.96;0.9;0.91;0.92	6.17	6.17	0.99709	SANT domain, DNA binding (1);MYB-like (1);	0.273790	0.43260	D	0.000590	T	0.23886	0.0578	N	0.08118	0	0.43787	D	0.996328	B	0.22683	0.073	B	0.12837	0.008	T	0.17379	-1.0371	10	0.02654	T	1	-10.3765	19.8676	0.96824	0.0:0.0:1.0:0.0	.	369	Q9Y222	DMTF1_HUMAN	K	369;369;281;369;103	ENSP00000332171:E369K;ENSP00000402627:E369K;ENSP00000412532:E281K;ENSP00000378193:E369K;ENSP00000415910:E103K	ENSP00000332171:E369K	E	+	1	0	DMTF1	86653136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.307000	0.65762	2.941000	0.99782	0.655000	0.94253	GAG		0.393	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		10	69	0	0	0	0	10	69				
GIGYF1	64599	broad.mit.edu	37	7	100281196	100281196	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100281196C>G	ENST00000275732.5	-	17	3238	c.2029G>C	c.(2029-2031)Gaa>Caa	p.E677Q	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	677					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGAGTTGTTCTAGAATTGGA	0.612																																						uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2029-2031)GAA>CAA		PERQ amino acid rich, with GYF domain 1							160.0	158.0	158.0					7																	100281196		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281196C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2029G>C	7.37:g.100281196C>G	ENSP00000275732:p.Glu677Gln						p.E677Q	NM_022574	NP_072096	O75420	PERQ1_HUMAN			17	3038	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		677					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2029G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.239848	0.79912	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.85411	-1.98	4.05	4.05	0.47172	.	0.147285	0.43579	D	0.000543	D	0.89846	0.6833	M	0.64997	1.995	0.52501	D	0.99995	D	0.76494	0.999	D	0.79784	0.993	D	0.88351	0.2981	10	0.31617	T	0.26	-10.6154	13.7737	0.63039	0.0:1.0:0.0:0.0	.	677	O75420	PERQ1_HUMAN	Q	396;677	ENSP00000275732:E677Q	ENSP00000275732:E677Q	E	-	1	0	GIGYF1	100119132	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.090000	0.63153	0.313000	0.20887	GAA		0.612	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	158	0	0	0	0	10	158				
SRRT	51593	broad.mit.edu	37	7	100482943	100482943	+	Silent	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100482943C>G	ENST00000347433.4	+	10	1427	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L	SRRT_ENST00000457580.2_Silent_p.L423L|SRRT_ENST00000388793.4_Silent_p.L422L|SRRT_ENST00000432932.1_Silent_p.L422L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	423					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCTGCTCCCTCTTCATGCGCA	0.622																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1267-1269)CTC>CTG		arsenate resistance protein 2 isoform a							51.0	53.0	52.0					7																	100482943		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482943C>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1269C>G	7.37:g.100482943C>G						SRRT_uc010lhl.1_Silent_p.L422L|SRRT_uc003uxa.2_Silent_p.L422L|SRRT_uc003uwz.2_Silent_p.L423L	p.L423L	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			11	1537	+			423					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1269C>G	CCDS34709.1																																																																																				0.622	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		6	61	0	0	0	0	6	61				
SRRT	51593	broad.mit.edu	37	7	100483972	100483972	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:100483972C>G	ENST00000347433.4	+	13	1721	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	SRRT_ENST00000457580.2_Missense_Mutation_p.I521M|SRRT_ENST00000388793.4_Missense_Mutation_p.I520M|SRRT_ENST00000432932.1_Missense_Mutation_p.I520M			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	521					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCAACGACATCAAGCTGGCGG	0.617																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1561-1563)ATC>ATG		arsenate resistance protein 2 isoform a							96.0	77.0	84.0					7																	100483972		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483972C>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1563C>G	7.37:g.100483972C>G	ENSP00000314491:p.Ile521Met					SRRT_uc010lhl.1_Missense_Mutation_p.I520M|SRRT_uc003uxa.2_Missense_Mutation_p.I520M|SRRT_uc003uwz.2_Missense_Mutation_p.I521M	p.I521M	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			14	1831	+			521					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1563C>G	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128929	0.77549	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.64	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.76170	2.325	0.58432	D	0.999999	D;D;D;D	0.69078	0.991;0.997;0.997;0.995	P;D;D;D	0.80764	0.868;0.994;0.994;0.986	T	0.76735	-0.2850	9	0.40728	T	0.16	.	12.4594	0.55723	0.0:0.918:0.0:0.082	.	520;520;521;521	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	M	521;520;520;521;151	.	ENSP00000314491:I521M	I	+	3	3	SRRT	100321908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.516000	0.35856	1.380000	0.46344	0.655000	0.94253	ATC		0.617	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		7	41	0	0	0	0	7	41				
LHFPL3	375612	broad.mit.edu	37	7	104377175	104377175	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:104377175G>A	ENST00000401970.2	+	2	579	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	LHFPL3_ENST00000535008.1_Missense_Mutation_p.E167K|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Missense_Mutation_p.E167K|LHFPL3_ENST00000424859.1_Missense_Mutation_p.E153K|LHFPL3-AS1_ENST00000449764.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	167						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						GGACTCAGATGAAGTAAAACG	0.443																																						uc003vce.2		NA																	0					0						c.(499-501)GAA>AAA		lipoma HMGIC fusion partner-like 3							72.0	69.0	70.0					7																	104377175		1922	4155	6077	SO:0001583	missense	375612					integral to membrane		g.chr7:104377175G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.457G>A	7.37:g.104377175G>A	ENSP00000385374:p.Glu153Lys					LHFPL3_uc003vcf.2_Missense_Mutation_p.E167K	p.E167K	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			2	623	+			153					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.499G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.111874	0.77210	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;D;T;D	0.81499	-0.64;-1.5;-0.64;-1.5	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	M	0.80616	2.505	0.52501	D	0.999957	B;B	0.25235	0.121;0.121	B;B	0.35971	0.215;0.215	T	0.79567	-0.1750	10	0.19147	T	0.46	0.0	20.0845	0.97795	0.0:0.0:1.0:0.0	.	167;167	A1L384;A4D0Q5	.;.	K	153;167;153;167	ENSP00000393128:E153K;ENSP00000444350:E167K;ENSP00000385374:E153K;ENSP00000445976:E167K	ENSP00000385374:E153K	E	+	1	0	LHFPL3	104164411	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	GAA		0.443	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		5	33	0	0	0	0	5	33				
MKRN1	23608	broad.mit.edu	37	7	140154936	140154936	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr7:140154936C>G	ENST00000255977.2	-	7	1419	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q|MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	399					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E399Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCTGTGGCTCCTCTCTACGG	0.488																																						uc003vvt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1195-1197)GAG>CAG		makorin ring finger protein 1 isoform 1							144.0	140.0	141.0					7																	140154936		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154936C>G	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1195G>C	7.37:g.140154936C>G	ENSP00000255977:p.Glu399Gln					MKRN1_uc003vvs.2_Missense_Mutation_p.E335Q|MKRN1_uc011krd.1_Missense_Mutation_p.E133Q	p.E399Q	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			7	1420	-	Melanoma(164;0.00956)		399					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.1195G>C	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.245350|4.245350	0.80024|0.80024	.|.	.|.	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576|ENST00000463142	T;T;T|.	0.44881|.	0.91;1.41;0.91|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75606|0.75606	0.3872|0.3872	M|M	0.66297|0.66297	2.02|2.02	0.52501|0.52501	D|D	0.999957|0.999957	P|.	0.41008|.	0.735|.	B|.	0.36666|.	0.23|.	T|T	0.78443|0.78443	-0.2202|-0.2202	10|6	0.48119|0.87932	T|D	0.1|0	.|.	18.4786|18.4786	0.90802|0.90802	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	399|.	Q9UHC7|.	MKRN1_HUMAN|.	Q|S	399;335;133;335|51	ENSP00000255977:E399Q;ENSP00000439823:E133Q;ENSP00000417863:E335Q|.	ENSP00000255977:E399Q|ENSP00000417346:R51S	E|R	-|-	1|3	0|2	MKRN1|MKRN1	139801405|139801405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.244000|7.244000	0.78228|0.78228	2.584000|2.584000	0.87258|0.87258	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.488	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		12	158	0	0	0	0	12	158				
INTS10	55174	broad.mit.edu	37	8	19683985	19683985	+	Missense_Mutation	SNP	C	C	T	rs200349817		TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:19683985C>T	ENST00000397977.3	+	9	1453	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	352					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAAGATGTATCGAATGTGTAT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18275	0.001		0.0	False		,,,				2504	0.0					uc003wzj.2		NA																	0				ovary(1)	1						c.(1054-1056)TCG>TTG		integrator complex subunit 10							128.0	120.0	123.0					8																	19683985		1905	4112	6017	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19683985C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1055C>T	8.37:g.19683985C>T	ENSP00000381064:p.Ser352Leu						p.S352L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	9	1186	+			352					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1055C>T	CCDS6011.2	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.91|13.91	2.378767|2.378767	0.42207|0.42207	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977	.|.	.|.	.|.	5.77|5.77	3.97|3.97	0.46021|0.46021	.|.	.|0.329273	.|0.32028	.|N	.|0.006691	.|T	.|0.29190	.|0.0726	L|L	0.31664|0.31664	0.95|0.95	0.23568|0.23568	N|N	0.997395|0.997395	.|B	.|0.15719	.|0.014	.|B	.|0.14023	.|0.01	.|T	.|0.13710	.|-1.0499	.|9	.|0.25751	.|T	.|0.34	-4.4191|-4.4191	10.7985|10.7985	0.46474|0.46474	0.0:0.8468:0.0:0.1532|0.0:0.8468:0.0:0.1532	.|.	.|352	.|Q9NVR2	.|INT10_HUMAN	X|L	128|352	.|.	.|ENSP00000381064:S352L	R|S	+|+	1|2	2|0	INTS10|INTS10	19728265|19728265	0.233000|0.233000	0.23772|0.23772	0.450000|0.450000	0.26969|0.26969	0.825000|0.825000	0.46686|0.46686	3.384000|3.384000	0.52478|0.52478	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.433	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		13	101	0	0	0	0	13	101				
NRG1	3084	broad.mit.edu	37	8	32621346	32621346	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:32621346C>T	ENST00000405005.3	+	12	1349	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	NRG1_ENST00000539990.1_Missense_Mutation_p.S293L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.S400L|NRG1_ENST00000356819.4_Missense_Mutation_p.S455L|NRG1_ENST00000338921.4_Missense_Mutation_p.S458L|NRG1_ENST00000287842.3_Missense_Mutation_p.S447L|NRG1_ENST00000287845.5_Missense_Mutation_p.S421L|NRG1_ENST00000341377.5_3'UTR|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCGCCCCCTTCGGAAATGTCT	0.562																																						uc003xiv.2		NA																	0					0						c.(1348-1350)TCG>TTG		neuregulin 1 isoform HRG-alpha							106.0	103.0	104.0					8																	32621346		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621346C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1349C>T	8.37:g.32621346C>T	ENSP00000384620:p.Ser450Leu					NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.S455L|NRG1_uc003xiw.2_Missense_Mutation_p.S447L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.S192L|NRG1_uc010lvs.2_Missense_Mutation_p.S192L|NRG1_uc010lvp.2_Missense_Mutation_p.S404L|NRG1_uc010lvq.2_Missense_Mutation_p.S387L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.S293L|NRG1_uc003xja.2_Missense_Mutation_p.S261L	p.S450L	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	1866	+		Breast(100;0.203)	450			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1349C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550808	0.27739	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.74	5.74	0.90152	Neuregulin 1-related, C-terminal (1);	0.133335	0.52532	D	0.000063	T	0.32763	0.0840	N	0.17474	0.49	0.48135	D	0.999594	B;B;B;B;B;B;B	0.29627	0.077;0.252;0.187;0.017;0.156;0.115;0.156	B;B;B;B;B;B;B	0.30251	0.025;0.053;0.113;0.004;0.053;0.049;0.069	T	0.12708	-1.0537	10	0.32370	T	0.25	-0.283	13.1651	0.59567	0.0:0.9272:0.0:0.0728	.	293;421;455;458;447;450;455	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	L	417;400;523;458;455;450;421;447;450;293	ENSP00000430053:S417L;ENSP00000429582:S400L;ENSP00000429067:S523L;ENSP00000343395:S458L;ENSP00000349275:S455L;ENSP00000287840:S450L;ENSP00000287845:S421L;ENSP00000287842:S447L;ENSP00000384620:S450L;ENSP00000439276:S293L	ENSP00000287840:S450L	S	+	2	0	NRG1	32740888	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.235000	0.51328	2.705000	0.92388	0.557000	0.71058	TCG		0.562	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			11	124	0	0	0	0	11	124				
FAM135B	51059	broad.mit.edu	37	8	139164247	139164247	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr8:139164247C>A	ENST00000395297.1	-	13	2641	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	824										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)			ATGGTCTGCTCCAGCATCTGT	0.507										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(2470-2472)GGA>GTA		hypothetical protein LOC51059							81.0	76.0	77.0					8																	139164247		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164247C>A	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.2471G>T	8.37:g.139164247C>A	ENSP00000378710:p.Gly824Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G725V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G386V|FAM135B_uc003yvb.2_Missense_Mutation_p.G386V	p.G824V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2642	-	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)		824					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2471G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392495	0.42410	.	.	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.64	1.02	0.19986	.	0.858517	0.10599	N	0.655886	T	0.10465	0.0256	L	0.32530	0.975	0.09310	N	1	B;B;B	0.21071	0.051;0.012;0.004	B;B;B	0.24155	0.051;0.016;0.003	T	0.39781	-0.9597	10	0.21540	T	0.41	-0.5651	1.7272	0.02924	0.2716:0.421:0.1332:0.1742	.	824;824;824	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	824	ENSP00000378710:G824V	ENSP00000276737:G824V	G	-	2	0	FAM135B	139233429	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.133000	0.10451	0.269000	0.21961	-0.181000	0.13052	GGA		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	76	1	0	1.13e-05	4.28e-05	7	76				
TAF1L	138474	broad.mit.edu	37	9	32632475	32632475	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:32632475C>T	ENST00000242310.4	-	1	3192	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1035					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTTTAATCTCTTCCTCAGGC	0.488																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3103-3105)GAG>AAG		TBP-associated factor RNA polymerase 1-like							228.0	225.0	226.0					9																	32632475		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632475C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3103G>A	9.37:g.32632475C>T	ENSP00000418379:p.Glu1035Lys					uc003zrh.1_5'Flank	p.E1035K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3193	-			1035					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3103G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450956	0.84209	.	.	ENSG00000122728	ENST00000242310	T	0.17370	2.28	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.096034	0.64402	D	0.000001	T	0.31796	0.0808	M	0.66297	2.02	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.03524	-1.1028	10	0.51188	T	0.08	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1035	Q8IZX4	TAF1L_HUMAN	K	1035	ENSP00000418379:E1035K	ENSP00000418379:E1035K	E	-	1	0	TAF1L	32622475	1.000000	0.71417	0.982000	0.44146	0.624000	0.37722	4.865000	0.62998	0.507000	0.28148	0.195000	0.17529	GAG		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			22	234	0	0	0	0	22	234				
TGFBR1	7046	broad.mit.edu	37	9	101910003	101910003	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:101910003G>C	ENST00000374994.4	+	8	1440	c.1323G>C	c.(1321-1323)atG>atC	p.M441I	RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Missense_Mutation_p.M364I|TGFBR1_ENST00000552516.1_Missense_Mutation_p.M445I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.M372I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	441	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTGAAGAAATGAGAAAAGTTG	0.323																																						uc004azc.2		NA																	0				lung(2)|ovary(1)	3						c.(1321-1323)ATG>ATC		transforming growth factor, beta receptor I							95.0	96.0	95.0					9																	101910003		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101910003G>C		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1323G>C	9.37:g.101910003G>C	ENSP00000364133:p.Met441Ile					TGFBR1_uc004azd.2_Missense_Mutation_p.M364I|TGFBR1_uc011lvc.1_Missense_Mutation_p.M372I	p.M441I	NM_004612	NP_004603	P36897	TGFR1_HUMAN			8	1399	+		Acute lymphoblastic leukemia(62;0.0559)	441			Protein kinase.|Cytoplasmic (Potential).		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1323G>C	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280776	0.95489	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	M	0.64170	1.965	0.80722	D	1	P;D	0.89917	0.872;1.0	P;D	0.74348	0.579;0.983	T	0.78687	-0.2107	10	0.87932	D	0	.	19.118	0.93350	0.0:0.0:1.0:0.0	.	364;441	P36897-3;P36897	.;TGFR1_HUMAN	I	441;403;364;445;372	ENSP00000364133:M441I;ENSP00000364129:M364I;ENSP00000447297:M445I;ENSP00000450052:M372I	ENSP00000364129:M364I	M	+	3	0	TGFBR1	100949824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	ATG		0.323	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			7	55	0	0	0	0	7	55				
IKBKAP	8518	broad.mit.edu	37	9	111670656	111670656	+	Silent	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:111670656C>T	ENST00000374647.5	-	13	1696	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	IKBKAP_ENST00000537196.1_Silent_p.V114V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	463					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCCAGTTTCACTGTAGGGT	0.388																																						uc004bdm.3		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(1387-1389)GTG>GTA		inhibitor of kappa light polypeptide gene							67.0	67.0	67.0					9																	111670656		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111670656C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1389G>A	9.37:g.111670656C>T						IKBKAP_uc004bdl.2_Silent_p.V114V|IKBKAP_uc011lwc.1_Silent_p.V349V|IKBKAP_uc010mtq.2_Silent_p.V114V	p.V463V	NM_003640	NP_003631	O95163	ELP1_HUMAN			13	1909	-			463					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.1389G>A	CCDS6773.1																																																																																				0.388	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			4	45	0	0	0	0	4	45				
TNFSF8	944	broad.mit.edu	37	9	117692466	117692466	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:117692466A>G	ENST00000223795.2	-	1	231	c.118T>C	c.(118-120)Tat>Cat	p.Y40H		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	40					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTGGTCAAATAGAAATAGCTG	0.597																																						uc004bji.1		NA																	0				lung(3)|skin(2)|ovary(1)	6						c.(118-120)TAT>CAT		tumor necrosis factor (ligand) superfamily,							90.0	89.0	89.0					9																	117692466		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692466A>G	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.118T>C	9.37:g.117692466A>G	ENSP00000223795:p.Tyr40His						p.Y40H	NM_001244	NP_001235	P32971	TNFL8_HUMAN			1	305	-			40			Helical; Signal-anchor for type II membrane protein; (Potential).		O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.118T>C	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543464	0.45280	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	5.46	0.80206	.	0.471739	0.19855	N	0.104544	T	0.45637	0.1352	L	0.29908	0.895	0.29749	N	0.836481	P	0.51791	0.948	P	0.54499	0.754	T	0.48007	-0.9072	9	0.66056	D	0.02	0.0018	13.2664	0.60135	1.0:0.0:0.0:0.0	.	40	P32971	TNFL8_HUMAN	H	40	.	ENSP00000223795:Y40H	Y	-	1	0	TNFSF8	116732287	1.000000	0.71417	0.276000	0.24689	0.243000	0.25628	5.354000	0.66040	2.065000	0.61736	0.445000	0.29226	TAT		0.597	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			13	114	0	0	0	0	13	114				
NTMT1	28989	broad.mit.edu	37	9	132397708	132397708	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:132397708G>C	ENST00000372486.1	+	4	986	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	NTMT1_ENST00000372483.4_Missense_Mutation_p.E213Q|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.E213Q|NTMT1_ENST00000482347.1_Missense_Mutation_p.E125Q			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	213					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CCTCCCCGATGAGATCTACCA	0.627																																						uc004byd.1		NA																	0					0						c.(637-639)GAG>CAG		methyltransferase like 11A							84.0	84.0	84.0					9																	132397708		2203	4300	6503	SO:0001583	missense	28989				chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity	g.chr9:132397708G>C	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.637G>C	9.37:g.132397708G>C	ENSP00000361564:p.Glu213Gln					METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	p.E213Q	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN			4	831	+			213					A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.637G>C	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684205	0.14907	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.28069	1.63;1.63;1.63	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.50919	1.6	0.58432	D	0.999997	D	0.58970	0.984	P	0.48921	0.595	T	0.05818	-1.0862	10	0.19590	T	0.45	-30.1951	17.1066	0.86665	0.0:0.0:1.0:0.0	.	213	Q9BV86	NTM1A_HUMAN	Q	213	ENSP00000361564:E213Q;ENSP00000361561:E213Q;ENSP00000361558:E213Q	ENSP00000361558:E213Q	E	+	1	0	METTL11A	131437529	1.000000	0.71417	0.934000	0.37439	0.377000	0.30045	7.090000	0.76916	2.373000	0.80994	0.549000	0.68633	GAG		0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		7	119	0	0	0	0	7	119				
GPR107	57720	broad.mit.edu	37	9	132854657	132854657	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:132854657G>A	ENST00000372406.1	+	9	1367	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	GPR107_ENST00000347136.6_Missense_Mutation_p.R287Q|GPR107_ENST00000372410.3_Missense_Mutation_p.R287Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	287						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CTTCGAAAACGACGGTAAACT	0.418																																						uc004bze.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(859-861)CGA>CAA		G protein-coupled receptor 107 isoform 1							130.0	128.0	129.0					9																	132854657		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132854657G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.860G>A	9.37:g.132854657G>A	ENSP00000361483:p.Arg287Gln					GPR107_uc004bzb.2_Missense_Mutation_p.R98Q|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.R287Q|GPR107_uc004bzd.2_Missense_Mutation_p.R287Q	p.R287Q	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			9	1087	+		Ovarian(14;0.000531)	287					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.860G>A	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245845	0.80024	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.24350	1.86;1.9;1.86	5.56	3.73	0.42828	.	0.196730	0.35151	N	0.003405	T	0.21921	0.0528	N	0.13299	0.325	0.35058	D	0.761277	P;D;P	0.59767	0.911;0.986;0.911	B;P;B	0.53689	0.405;0.732;0.383	T	0.18524	-1.0334	10	0.20519	T	0.43	-0.7103	11.0655	0.47972	0.1511:0.0:0.8489:0.0	.	287;287;287	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	Q	287	ENSP00000361483:R287Q;ENSP00000336988:R287Q;ENSP00000361487:R287Q	ENSP00000336988:R287Q	R	+	2	0	GPR107	131894478	1.000000	0.71417	0.984000	0.44739	0.935000	0.57460	5.133000	0.64764	0.733000	0.32492	-0.216000	0.12614	CGA		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			6	71	0	0	0	0	6	71				
GTF3C4	9329	broad.mit.edu	37	9	135554308	135554308	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:135554308G>C	ENST00000372146.4	+	2	1866	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	434					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CAGACAAACAGAATGGAACAG	0.453																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1300-1302)CAG>CAC		general transcription factor IIIC 4							122.0	110.0	114.0					9																	135554308		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554308G>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1302G>C	9.37:g.135554308G>C	ENSP00000361219:p.Gln434His					GTF3C4_uc010mzw.2_RNA	p.Q434H	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1560	+			434					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1302G>C	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580532	0.28180	.	.	ENSG00000125484	ENST00000372146	T	0.63096	-0.02	5.43	4.33	0.51752	.	0.284168	0.40222	N	0.001145	T	0.43188	0.1236	N	0.14661	0.345	0.34580	D	0.714334	B	0.21225	0.053	B	0.14023	0.01	T	0.50030	-0.8875	10	0.23302	T	0.38	-27.2399	13.807	0.63238	0.0893:0.0:0.9107:0.0	.	434	Q9UKN8	TF3C4_HUMAN	H	434	ENSP00000361219:Q434H	ENSP00000361219:Q434H	Q	+	3	2	GTF3C4	134544129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.589000	0.36644	2.547000	0.85894	0.491000	0.48974	CAG		0.453	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			4	102	0	0	0	0	4	102				
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1363-1365)GAG>AAG		notch1 preproprotein							57.0	64.0	62.0					9																	139412282		2174	4262	6436	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412282C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1363G>A	9.37:g.139412282C>T	ENSP00000277541:p.Glu455Lys	HNSCC(8;0.001)					p.E455K	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1363	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	455			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1363G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705042	0.88924	.	.	ENSG00000148400	ENST00000277541	D	0.98849	-5.18	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99226	1.0880	10	0.66056	D	0.02	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	455	P46531	NOTC1_HUMAN	K	455	ENSP00000277541:E455K	ENSP00000277541:E455K	E	-	1	0	NOTCH1	138532103	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	5.879000	0.69690	2.088000	0.63022	0.462000	0.41574	GAG		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		15	51	0	0	0	0	15	51				
SUPT20HL2	170067	broad.mit.edu	37	X	24330433	24330433	+	IGR	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:24330433C>G								AC096509.1 (25639 upstream) : AC004552.1 (36492 downstream)																							AAAGGGTCTTCTACCTCCTGG	0.537																																						uc011mjw.1		NA																	0					0						c.(1000-1002)GAA>CAA		family with sequence similarity 48, member B2							127.0	113.0	117.0					X																	24330433		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330433C>G																													X.37:g.24330433C>G							p.E334Q	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	1000	-			334						Missense_Mutation	SNP		37	c.1000G>C																																																																																				0	0.537									15	186	0	0	0	0	15	186				
JADE3	9767	broad.mit.edu	37	X	46887308	46887308	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:46887308G>A	ENST00000218343.4	+	6	788	c.490G>A	c.(490-492)Gat>Aat	p.D164N	PHF16_ENST00000397189.1_Missense_Mutation_p.D164N	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGGGCCAGTTGATGAGAATCT	0.458																																						uc004dgx.2		NA																	0					0						c.(490-492)GAT>AAT		PHD finger protein 16							105.0	87.0	93.0					X																	46887308		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887308G>A																												ENST00000218343.4:c.490G>A	X.37:g.46887308G>A	ENSP00000218343:p.Asp164Asn					PHF16_uc004dgy.2_Missense_Mutation_p.D164N	p.D164N	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			6	541	+			164						Missense_Mutation	SNP	ENST00000218343.4	37	c.490G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502415	0.85176	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.42513	0.97;0.97;0.97	5.78	4.91	0.64330	Enhancer of polycomb-like, N-terminal (1);	0.043926	0.85682	D	0.000000	T	0.51312	0.1667	M	0.70903	2.155	0.80722	D	1	P	0.42248	0.774	P	0.46885	0.53	T	0.52388	-0.8582	10	0.46703	T	0.11	.	13.9015	0.63806	0.075:0.0:0.925:0.0	.	164	Q92613	JADE3_HUMAN	N	164	ENSP00000391009:D164N;ENSP00000380373:D164N;ENSP00000218343:D164N	ENSP00000218343:D164N	D	+	1	0	PHF16	46772252	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.459000	0.80802	1.192000	0.43071	0.594000	0.82650	GAT		0.458	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			8	61	0	0	0	0	8	61				
SPIN3	169981	broad.mit.edu	37	X	57020780	57020780	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:57020780C>T	ENST00000374919.3	-	2	923	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	201					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCTCCTGGCTCCCTCTCTGCC	0.463																																						uc010nkj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(601-603)GAG>AAG		spindlin family, member 3							74.0	71.0	72.0					X																	57020780		2095	4242	6337	SO:0001583	missense	169981				gamete generation			g.chrX:57020780C>T	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.601G>A	X.37:g.57020780C>T	ENSP00000364054:p.Glu201Lys					SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E201K	p.E201K	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			2	887	-			201					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.601G>A	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094976	0.36952	.	.	ENSG00000204271	ENST00000374919	T	0.41400	1.0	2.72	1.85	0.25348	.	0.093514	0.41938	U	0.000799	T	0.48960	0.1529	L	0.47190	1.495	0.36394	D	0.862729	D	0.76494	0.999	D	0.87578	0.998	T	0.51188	-0.8737	10	0.22109	T	0.4	-6.7773	7.2081	0.25919	0.0:0.8532:0.0:0.1468	.	201	Q5JUX0	SPIN3_HUMAN	K	201	ENSP00000364054:E201K	ENSP00000364054:E201K	E	-	1	0	SPIN3	57037505	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	6.140000	0.71738	0.580000	0.29522	-0.192000	0.12808	GAG		0.463	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		11	63	0	0	0	0	11	63				
HEPH	9843	broad.mit.edu	37	X	65486458	65486458	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:65486458C>T	ENST00000343002.2	+	20	4085	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	HEPH_ENST00000419594.1_Missense_Mutation_p.R952C|HEPH_ENST00000336279.5_Missense_Mutation_p.R874C|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143C|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144C|HEPH_ENST00000519389.1_Missense_Mutation_p.R1195C			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(3430-3432)CGC>TGC		hephaestin isoform a							240.0	164.0	190.0					X																	65486458		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486458C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3421C>T	X.37:g.65486458C>T	ENSP00000343939:p.Arg1141Cys					HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C	p.R1144C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			21	3490	+			1141			Cytoplasmic (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3430C>T		.	.	.	.	.	.	.	.	.	.	.	18.62	3.663560	0.67700	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99353	-5.77;-5.74;-5.73;-5.73;-5.77;-5.73	5.6	4.68	0.58851	.	0.113219	0.40385	N	0.001118	D	0.98457	0.9486	L	0.29908	0.895	0.44852	D	0.997861	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.61800	0.869;0.889;0.894	D	0.98256	1.0496	10	0.87932	D	0	.	11.3447	0.49554	0.1808:0.8192:0.0:0.0	.	1195;952;1141	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	C	1195;1144;874;1143;952;1141	ENSP00000430620:R1195C;ENSP00000363859:R1144C;ENSP00000337418:R874C;ENSP00000411687:R1143C;ENSP00000413211:R952C;ENSP00000343939:R1141C	ENSP00000337418:R874C	R	+	1	0	HEPH	65403183	0.988000	0.35896	0.931000	0.37212	0.716000	0.41182	2.856000	0.48341	2.354000	0.79902	0.600000	0.82982	CGC		0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	48	0	0	0	0	5	48				
XKRX	402415	broad.mit.edu	37	X	100177939	100177939	+	Silent	SNP	C	C	G			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:100177939C>G	ENST00000372956.2	-	2	1051	c.447G>C	c.(445-447)ctG>ctC	p.L149L	XKRX_ENST00000328526.5_Silent_p.L162L|XKRX_ENST00000468904.1_Intron			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCCATTCTATCAGCACCTCCT	0.547																																						uc004egn.2		NA																	0				breast(1)	1						c.(445-447)CTG>CTC		XK, Kell blood group complex subunit-related,							195.0	163.0	174.0					X																	100177939		2203	4300	6503	SO:0001819	synonymous_variant	402415					integral to membrane|plasma membrane		g.chrX:100177939C>G	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.447G>C	X.37:g.100177939C>G						XKRX_uc011mre.1_Intron	p.L149L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			2	1052	-			149					B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	c.447G>C	CCDS14476.2																																																																																				0.547	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		6	157	0	0	0	0	6	157				
GRIA3	2892	broad.mit.edu	37	X	122551330	122551330	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122551330G>C	ENST00000371251.1	+	11	1630	c.1578G>C	c.(1576-1578)atG>atC	p.M526I	GRIA3_ENST00000541091.1_Missense_Mutation_p.M510I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M526I|GRIA3_ENST00000264357.5_Missense_Mutation_p.M526I|GRIA3_ENST00000542149.1_Missense_Mutation_p.M526I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	526					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGCCATTCATGAGCCTGGGCA	0.398																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1576-1578)ATG>ATC		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						147.0	142.0	144.0					X																	122551330		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122551330G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1578G>C	X.37:g.122551330G>C	ENSP00000360297:p.Met526Ile					GRIA3_uc004etr.3_Missense_Mutation_p.M526I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.M510I	p.M526I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			12	1871	+			526			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1578G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721252	0.89205	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.51574	1.15;1.15;1.15;1.15;0.7	5.84	5.84	0.93424	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.61036	1.89	0.80722	D	1	D;P;P	0.89917	1.0;0.74;0.831	D;P;P	0.91635	0.999;0.577;0.758	T	0.70040	-0.4981	10	0.87932	D	0	.	17.9095	0.88929	0.0:0.0:1.0:0.0	.	510;526;526	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	526;526;526;526;510	ENSP00000264357:M526I;ENSP00000446146:M526I;ENSP00000360302:M526I;ENSP00000360297:M526I;ENSP00000446440:M510I	ENSP00000264357:M526I	M	+	3	0	GRIA3	122379011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.449000	0.82847	0.600000	0.82982	ATG		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		9	217	0	0	0	0	9	217				
THOC2	57187	broad.mit.edu	37	X	122747943	122747943	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:122747943C>T	ENST00000245838.8	-	34	4440	c.4409G>A	c.(4408-4410)aGa>aAa	p.R1470K	THOC2_ENST00000491737.1_Missense_Mutation_p.R1355K|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000355725.4_Missense_Mutation_p.R1470K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1470	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCTCTCTTTCTCTGGA	0.378																																						uc004etu.2		NA																	0				ovary(3)	3						c.(4408-4410)AGA>AAA		THO complex 2							133.0	115.0	120.0					X																	122747943		1827	4074	5901	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122747943C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4409G>A	X.37:g.122747943C>T	ENSP00000245838:p.Arg1470Lys					THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R291K	p.R1470K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			34	4441	-			1470			Lys-rich.|Potential.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4409G>A	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.356519|2.356519	0.41700|0.41700	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	6.06|6.06	5.2|5.2	0.72013|0.72013	.|.	.|0.338132	.|0.28042	.|N	.|0.016839	T|T	0.50752|0.50752	0.1634|0.1634	L|L	0.29908|0.29908	0.895|0.895	0.45822|0.45822	D|D	0.998691|0.998691	.|B	.|0.12013	.|0.005	.|B	.|0.11329	.|0.006	T|T	0.40346|0.40346	-0.9568|-0.9568	5|9	.|0.30854	.|T	.|0.27	-11.0555|-11.0555	14.3454|14.3454	0.66658|0.66658	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	.|1470	.|Q8NI27	.|THOC2_HUMAN	K|K	66;265|1470;1470;59;1355	.|.	.|ENSP00000245838:R1470K	E|R	-|-	1|2	0|0	THOC2|THOC2	122575624|122575624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.668000|4.668000	0.61568|0.61568	1.313000|1.313000	0.45069|0.45069	0.600000|0.600000	0.82982|0.82982	GAG|AGA		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			8	111	0	0	0	0	8	111				
MAGEC1	9947	broad.mit.edu	37	X	140993500	140993500	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:140993500G>C	ENST00000285879.4	+	4	596	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	104										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCTCCTGAGGGGAAGGA	0.562										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(310-312)GAG>CAG		melanoma antigen family C, 1							78.0	77.0	78.0					X																	140993500		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993500G>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.310G>C	X.37:g.140993500G>C	ENSP00000285879:p.Glu104Gln	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.E104Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	596	+	Acute lymphoblastic leukemia(192;6.56e-05)		104					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.310G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	8.817	0.936590	0.18206	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.49051	D	0.999748	P	0.39094	0.659	B	0.42959	0.403	T	0.64537	-0.6384	7	0.33940	T	0.23	.	.	.	.	.	104	O60732	MAGC1_HUMAN	Q	104	ENSP00000285879:E104Q	ENSP00000285879:E104Q	E	+	1	0	MAGEC1	140821166	0.002000	0.14202	0.013000	0.15412	0.013000	0.08279	0.140000	0.16056	0.108000	0.17862	0.110000	0.15639	GAG		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	130	0	0	0	0	11	130				
ABCD1	215	broad.mit.edu	37	X	153006171	153006171	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chrX:153006171G>C	ENST00000218104.3	+	7	2177	c.1778G>C	c.(1777-1779)gGa>gCa	p.G593A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	593	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGGAGGGAGGTAGGAGG	0.612																																						uc004fif.2		NA																	0					0						c.(1777-1779)GGA>GCA		ATP-binding cassette, sub-family D (ALD), member							50.0	45.0	46.0					X																	153006171		2201	4300	6501	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153006171G>C	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1778G>C	X.37:g.153006171G>C	ENSP00000218104:p.Gly593Ala					ABCD1_uc004fig.2_Missense_Mutation_p.G93A|ABCD1_uc004fih.2_5'Flank	p.G593A	NM_000033	NP_000024	P33897	ABCD1_HUMAN			7	2177	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		593			ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1778G>C	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304182	0.60305	.	.	ENSG00000101986	ENST00000218104	D	0.99896	-7.6	4.76	3.89	0.44902	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.130904	0.51477	D	0.000100	D	0.99771	0.9906	L	0.56396	1.775	0.80722	D	1	D	0.61697	0.99	D	0.66084	0.941	D	0.96940	0.9687	10	0.54805	T	0.06	-7.0334	12.9592	0.58447	0.0:0.1603:0.8397:0.0	.	593	P33897	ABCD1_HUMAN	A	593	ENSP00000218104:G593A	ENSP00000218104:G593A	G	+	2	0	ABCD1	152659365	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	7.320000	0.79064	0.993000	0.38866	0.429000	0.28392	GGA		0.612	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		10	71	0	0	0	0	10	71				
NR3C1	2908	broad.mit.edu	37	5	142780167	142780178	+	In_Frame_Del	DEL	TGGACAGATCTG	TGGACAGATCTG	-			TCGA-CX-7085-01A-21D-2012-08	TCGA-CX-7085-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4f6ee10b-246d-49cd-8b60-01dcb175e634	2daef6fc-3028-4843-a302-e38d33d7461f	g.chr5:142780167_142780178delTGGACAGATCTG	ENST00000343796.2	-	2	1220_1231	c.227_238delCAGATCTGTCCA	c.(226-240)ccagatctgtccaaa>caa	p.76_80PDLSK>Q	NR3C1_ENST00000504572.1_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000231509.3_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000394466.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000394464.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000415690.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000503201.1_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_In_Frame_Del_p.76_80PDLSK>Q	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAAACTGCTTTGGACAGATCTGGCTGCTGCGC	0.491																																						uc003lmz.2		NA																	0				ovary(2)	2						c.(226-240)CCAGATCTGTCCAAA>CAA		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)																																			SO:0001651	inframe_deletion	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780167_142780178delTGGACAGATCTG	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.227_238delCAGATCTGTCCA	5.37:g.142780167_142780178delTGGACAGATCTG	ENSP00000343205:p.Pro76_Lys80delinsGln					NR3C1_uc003lmy.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lna.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnb.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnd.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lne.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnf.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lng.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnh.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lni.2_In_Frame_Del_p.76_80PDLSK>Q	p.76_80PDLSK>Q	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	719_730	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	76_80			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	In_Frame_Del	DEL	ENST00000343796.2	37	c.227_238delCAGATCTGTCCA	CCDS4278.1																																																																																				0.491	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			13	166	NA	NA	NA	NA	13	166	---	---	---	---
