#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CHTF18	63922	broad.mit.edu	37	16	845756	845756	+	Silent	SNP	C	C	T			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr16:845756C>T	ENST00000262315.9	+	17	2310	c.2247C>T	c.(2245-2247)cgC>cgT	p.R749R	CHTF18_ENST00000317063.6_Silent_p.R958R|CHTF18_ENST00000455171.2_Silent_p.R777R	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	749					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGCCACGCGCAGCCGGGCCA	0.701																																						uc002ckf.4																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2329-2331)cgC>cgT		Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.							16.0	22.0	20.0					16																	845756		2099	4187	6286	SO:0001819	synonymous_variant	63922				DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:845756C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2247C>T	16.37:g.845756C>T			Somatic				CHTF18_uc002cke.4_Silent_p.R749R|CHTF18_uc010brf.3_Silent_p.R331R|CHTF18_uc002ckg.4_Silent_p.R267R	p.R777R	NM_022092	NP_071375	WXS	Illumina GAIIx	Phase_I	Q8WVB6	CTF18_HUMAN			15	2394	+		Hepatocellular(780;0.00335)	749					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	c.2331C>T	CCDS45371.1																																																																																				0.701	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		5	13	0	0	0	1	0	5	13				
HNRNPR	10236	broad.mit.edu	37	1	23645159	23645159	+	Silent	SNP	G	G	A			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:23645159G>A	ENST00000374612.1	-	8	957	c.834C>T	c.(832-834)ctC>ctT	p.L278L	HNRNPR_ENST00000478691.1_Silent_p.L180L|HNRNPR_ENST00000302271.6_Silent_p.L278L|HNRNPR_ENST00000606561.1_Silent_p.L139L|HNRNPR_ENST00000374616.3_Silent_p.L281L|HNRNPR_ENST00000427764.2_Silent_p.L240L|HNRNPR_ENST00000426846.2_Silent_p.L118L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	278	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTGATGATAGAGAATAACGT	0.463																																						uc001bgp.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(841-843)ctC>ctT		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 1, mRNA.							69.0	68.0	68.0					1																	23645159		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	g.chr1:23645159G>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.834C>T	1.37:g.23645159G>A			Somatic				HNRNPR_uc010odw.2_Silent_p.L240L|HNRNPR_uc009vql.3_Silent_p.L139L|HNRNPR_uc001bgr.4_Silent_p.L278L|HNRNPR_uc001bgs.4_Silent_p.L177L|HNRNPR_uc009vqk.3_Silent_p.L180L|HNRNPR_uc010odx.2_Silent_p.L118L	p.L281L	NM_001102398	NP_001095869	WXS	Illumina GAIIx	Phase_I	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	1002	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	278			RRM 2.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.843C>T	CCDS232.1																																																																																				0.463	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		6	17	0	0	0	1	0	6	17				
OR5J2	282775	broad.mit.edu	37	11	55944860	55944860	+	Missense_Mutation	SNP	T	T	C	rs139886298		TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr11:55944860T>C	ENST00000312298.1	+	1	767	c.767T>C	c.(766-768)aTc>aCc	p.I256T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTACCTTAATCTTTAGCTAC	0.448																																						uc010rjb.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(766-768)aTc>aCc		Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.		G	THR/ILE	0,4402		0,0,2201	127.0	123.0	125.0		767	-0.3	0.0	11	dbSNP_134	125	1,8591		0,1,4295	no	missense	OR5J2	NM_001005492.1	89	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	256/313	55944860	1,12993	2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944860T>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.767T>C	11.37:g.55944860T>C	ENSP00000310788:p.Ile256Thr		Somatic					p.I256T	NM_001005492	NP_001005492	WXS	Illumina GAIIx	Phase_I	Q8NH18	OR5J2_HUMAN			0	767	+	Esophageal squamous(21;0.00693)		256					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.767T>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788714	0.16258	0.0	1.16E-4	ENSG00000174957	ENST00000312298	T	0.40756	1.02	4.26	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.181808	0.38778	N	0.001568	T	0.25680	0.0625	L	0.39020	1.185	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10337	-1.0634	10	0.42905	T	0.14	.	4.3038	0.10937	0.0884:0.1091:0.2091:0.5933	.	256	Q8NH18	OR5J2_HUMAN	T	256	ENSP00000310788:I256T	ENSP00000310788:I256T	I	+	2	0	OR5J2	55701436	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.186000	0.03070	0.059000	0.16252	-0.912000	0.02778	ATC		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		4	63	0	0	0	1	0	4	63				
ARHGEF6	9459	broad.mit.edu	37	X	135827439	135827439	+	Silent	SNP	G	G	A			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chrX:135827439G>A	ENST00000250617.6	-	4	1607	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	134					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCCCTGTGGGTTTGTCTGAG	0.433																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(400-402)aaC>aaT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							224.0	201.0	209.0					X																	135827439		2203	4300	6503	SO:0001819	synonymous_variant	9459				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827439G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.402C>T	X.37:g.135827439G>A			Somatic				ARHGEF6_uc011mwd.2_5'UTR|ARHGEF6_uc011mwe.2_5'UTR	p.N134N	NM_004840	NP_004831	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			3	864	-	Acute lymphoblastic leukemia(192;0.000127)		134					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.402C>T	CCDS14660.1																																																																																				0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		53	92	0	0	0	1	0	53	92				
INADL	10207	broad.mit.edu	37	1	62550208	62550208	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:62550208C>G	ENST00000371158.2	+	33	4379	c.4265C>G	c.(4264-4266)tCa>tGa	p.S1422*	INADL_ENST00000545929.1_Nonsense_Mutation_p.S95*|INADL_ENST00000316485.6_Nonsense_Mutation_p.S1422*|INADL_ENST00000543708.1_Nonsense_Mutation_p.S206*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1422					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCTCCTCTGTCAGTGGACCCC	0.517																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4264-4266)tCa>tGa		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							96.0	87.0	90.0					1																	62550208		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550208C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4265C>G	1.37:g.62550208C>G	ENSP00000360200:p.Ser1422*		Somatic				INADL_uc009waf.1_Nonsense_Mutation_p.S1422*|INADL_uc001daa.2_Nonsense_Mutation_p.S1422*|INADL_uc001dad.3_Nonsense_Mutation_p.S1119*|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Nonsense_Mutation_p.S206*|INADL_uc009wag.3_Nonsense_Mutation_p.S206*|INADL_uc010oou.1_Nonsense_Mutation_p.S95*	p.S1422*	NM_176877	NP_795352	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			32	4379	+			1422					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.4265C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	44	10.559965	0.99427	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	.	.	.	5.02	5.02	0.67125	.	0.220979	0.29956	N	0.010763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.6843	0.88252	0.0:1.0:0.0:0.0	.	.	.	.	X	1422;1422;1422;1422;206;95	.	ENSP00000326199:S1422X	S	+	2	0	INADL	62322796	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.736000	0.68597	2.477000	0.83638	0.655000	0.94253	TCA		0.517	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		4	44	0	0	0	1	0	4	44				
CHSY3	337876	broad.mit.edu	37	5	129520924	129520924	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr5:129520924A>T	ENST00000305031.4	+	3	2447	c.2089A>T	c.(2089-2091)Aga>Tga	p.R697*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	697					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAGTTTTCCAGAGGTCTTGG	0.443																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2089-2091)Aga>Tga		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							83.0	78.0	79.0					5																	129520924		2203	4300	6503	SO:0001587	stop_gained	337876					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr5:129520924A>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2089A>T	5.37:g.129520924A>T	ENSP00000302629:p.Arg697*		Somatic					p.R697*	NM_175856	NP_787052	WXS	Illumina GAIIx	Phase_I	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	2089	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	697					B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	ENST00000305031.4	37	c.2089A>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	38	7.229103	0.98150	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7644	14.5729	0.68224	1.0:0.0:0.0:0.0	.	.	.	.	X	697	.	.	R	+	1	2	CHSY3	129548823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.787000	0.55439	2.171000	0.68590	0.528000	0.53228	AGA		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		8	30	0	0	0	1	0	8	30				
FERMT1	55612	broad.mit.edu	37	20	6065760	6065760	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr20:6065760C>G	ENST00000217289.4	-	12	2334	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E259Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	516	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACAAAACATTCTGGGTTCATA	0.418																																						uc002wmr.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CM074077	FERMT1	M		c.(1546-1548)Gaa>Caa		Homo sapiens fermitin family member 1 (FERMT1), mRNA.							139.0	125.0	130.0					20																	6065760		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065760C>G	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1546G>C	20.37:g.6065760C>G	ENSP00000217289:p.Glu516Gln		Somatic				FERMT1_uc002wmq.3_Missense_Mutation_p.E69Q|FERMT1_uc010gbt.3_Missense_Mutation_p.E259Q	p.E516Q	NM_017671	NP_060141	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			11	2335	-			516			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1546G>C	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535230	0.64972	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.72167	-0.63;-0.63	5.17	5.17	0.71159	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.78934	-0.2008	10	0.33141	T	0.24	-25.0717	19.0514	0.93049	0.0:1.0:0.0:0.0	.	516	Q9BQL6	FERM1_HUMAN	Q	516;259;516	ENSP00000217289:E516Q;ENSP00000441063:E259Q	ENSP00000217289:E516Q	E	-	1	0	FERMT1	6013760	1.000000	0.71417	0.906000	0.35671	0.427000	0.31564	7.765000	0.85310	2.552000	0.86080	0.556000	0.70494	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		3	50	0	0	0	1	0	3	50				
RGS6	9628	broad.mit.edu	37	14	72961895	72961895	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr14:72961895A>G	ENST00000553530.1	+	13	1097	c.890A>G	c.(889-891)gAc>gGc	p.D297G	RGS6_ENST00000553525.1_Missense_Mutation_p.D297G|RGS6_ENST00000404301.2_Missense_Mutation_p.D297G|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Missense_Mutation_p.D297G|RGS6_ENST00000556437.1_Missense_Mutation_p.D297G|RGS6_ENST00000554782.1_Missense_Mutation_p.D158G|RGS6_ENST00000406236.4_Missense_Mutation_p.D297G|RGS6_ENST00000355512.6_Missense_Mutation_p.D297G|RGS6_ENST00000407322.4_Missense_Mutation_p.D297G|RGS6_ENST00000402788.2_Missense_Mutation_p.D297G|RGS6_ENST00000434263.2_Missense_Mutation_p.D228G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	297	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGGAATATGACCCTTTGATA	0.428																																					Ovarian(143;1926 2468 21071 48641)	uc010ttp.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(682-684)gAc>gGc		Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 4, mRNA.							220.0	193.0	202.0					14																	72961895		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961895A>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.890A>G	14.37:g.72961895A>G	ENSP00000452331:p.Asp297Gly		Somatic				RGS6_uc021rvv.1_Missense_Mutation_p.D262G|RGS6_uc001xna.4_Missense_Mutation_p.D297G|RGS6_uc010ttn.2_Missense_Mutation_p.D297G|RGS6_uc021rvw.1_Missense_Mutation_p.D297G|RGS6_uc021rvx.1_Missense_Mutation_p.D297G|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.D297G|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D297G|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc021rwc.1_Missense_Mutation_p.D158G	p.D228G	NM_001204418	NP_001191347	WXS	Illumina GAIIx	Phase_I	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	10	786	+			297					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.683A>G	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473542	0.84640	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.81	5.81	0.92471	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.93351	0.6718	10	0.87932	D	0	-7.9205	15.1525	0.72713	1.0:0.0:0.0:0.0	.	228;297;302;297	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	G	297;297;297;297;297;297;297;297;297;269;228;158;158	ENSP00000451030:D297G;ENSP00000450936:D297G;ENSP00000452331:D297G;ENSP00000451855:D297G;ENSP00000347699:D297G;ENSP00000385243:D297G;ENSP00000384218:D297G;ENSP00000384612:D297G;ENSP00000383953:D297G;ENSP00000412144:D228G;ENSP00000451912:D158G	ENSP00000347699:D297G	D	+	2	0	RGS6	72031648	1.000000	0.71417	0.781000	0.31783	0.855000	0.48748	8.126000	0.89592	2.217000	0.71921	0.533000	0.62120	GAC		0.428	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			3	76	0	0	0	1	0	3	76				
