#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SH3PXD2A	9644	broad.mit.edu	37	10	105365619	105365619	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:105365619G>A	ENST00000369774.4	-	14	1640	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.T427I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.T290I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.T322I|RP11-416N2.4_ENST00000609691.1_RNA			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	455	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCGGCAATGGTGTAGTACTC	0.537											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1363-1365)aCc>aTc		SH3 and PX domains 2A							117.0	93.0	101.0					10																	105365619		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105365619G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1364C>T	10.37:g.105365619G>A	ENSP00000358789:p.Thr455Ile		OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1388	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.T427I|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.T290I|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.T322I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR	p.T455I			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	1640	-		Colorectal(252;0.0815)|Breast(234;0.131)	455			SH3 3.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1364C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.411146	0.96072	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.77	5.77	0.91146	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.81497	2.545	0.80722	D	1	D;P;P;P	0.56746	0.977;0.787;0.774;0.943	P;P;P;P	0.62560	0.904;0.794;0.71;0.844	T	0.61613	-0.7027	10	0.72032	D	0.01	-50.3314	19.9983	0.97395	0.0:0.0:1.0:0.0	.	455;304;300;427	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	I	455;427;262;370;322;290	ENSP00000358789:T455I;ENSP00000348215:T427I;ENSP00000443663:T322I;ENSP00000441514:T290I	ENSP00000318135:T262I	T	-	2	0	SH3PXD2A	105355609	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.724000	0.93272	0.561000	0.74099	ACC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		32	38	0	0	0	0.144211	0	32	38				
CTSW	1521	broad.mit.edu	37	11	65651008	65651008	+	Silent	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:65651008T>C	ENST00000307886.3	+	10	1096	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N	FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_3'UTR	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	350					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GAGGGAGCAATACCTGTGGCA	0.622																																						ENST00000307886.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(1048-1050)aaT>aaC		cathepsin W							164.0	160.0	161.0					11																	65651008		2201	4296	6497	SO:0001819	synonymous_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65651008T>C	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.1050T>C	11.37:g.65651008T>C						CTSW_ENST00000528419.1_3'UTR	p.N350N	NM_001335.3	NP_001326.2	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	10	1096	+			350					Q86VT4	Silent	SNP	ENST00000307886.3	37	c.1050T>C	CCDS8117.1																																																																																				0.622	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		47	77	0	0	0	0.139131	0	47	77				
COL5A1	1289	broad.mit.edu	37	9	137690287	137690287	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr9:137690287C>T	ENST00000371817.3	+	37	3346	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	978	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGACACCCTGGACAGAG	0.577																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2932-2934)Cct>Tct		collagen, type V, alpha 1							123.0	103.0	109.0					9																	137690287		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137690287C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2932C>T	9.37:g.137690287C>T	ENSP00000360882:p.Pro978Ser						p.P978S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	37	3346	+		Myeloproliferative disorder(178;0.0341)	978			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2932C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037229	0.75617	.	.	ENSG00000130635	ENST00000371817	T	0.35789	1.29	4.81	4.81	0.61882	.	0.000000	0.85682	U	0.000000	T	0.56572	0.1994	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60525	-0.7246	10	0.72032	D	0.01	.	17.4735	0.87653	0.0:1.0:0.0:0.0	.	978	P20908	CO5A1_HUMAN	S	978	ENSP00000360882:P978S	ENSP00000360882:P978S	P	+	1	0	COL5A1	136830108	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.496000	0.81526	2.196000	0.70406	0.643000	0.83706	CCT		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	65	0	0	0	0.029380	0	6	65				
MTO1	25821	broad.mit.edu	37	6	74171794	74171794	+	Splice_Site	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:74171794G>A	ENST00000370300.4	+	1	307	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000498286.1_Splice_Site_p.G73S|MTO1_ENST00000415954.2_Splice_Site_p.G73S	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	73					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGACACGATCGGTGAGGAGCG	0.657																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.e1+1		mitochondrial tRNA translation optimization 1							30.0	32.0	31.0					6																	74171794		2201	4299	6500	SO:0001630	splice_region_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74171794G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.217+1G>A	6.37:g.74171794G>A						MTO1_ENST00000370305.1_Intron|MTO1_ENST00000370300.4_Splice_Site_p.G73_splice|MTO1_ENST00000415954.2_Splice_Site_p.G73_splice	p.G73_splice			Q9Y2Z2	MTO1_HUMAN			1	494	+			73					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Splice_Site	SNP	ENST00000370300.4	37	c.217_splice	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	37	6.033432	0.97221	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370300	T;T;T	0.78595	-1.19;-1.19;-1.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92130	0.5711	10	0.87932	D	0	-19.0852	16.504	0.84264	0.0:0.0:1.0:0.0	.	73;73;73	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	S	73	ENSP00000402038:G73S;ENSP00000419561:G73S;ENSP00000359323:G73S	ENSP00000350506:G73S	G	+	1	0	MTO1	74228515	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.702000	0.74628	2.666000	0.90696	0.555000	0.69702	GGT		0.657	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123	Missense_Mutation	3	48	0	0	0	0.115264	0	3	48				
TACC2	10579	broad.mit.edu	37	10	123970987	123970987	+	Silent	SNP	T	T	C	rs377341447		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:123970987T>C	ENST00000369005.1	+	9	7387	c.7047T>C	c.(7045-7047)ccT>ccC	p.P2349P	TACC2_ENST00000369000.1_Silent_p.P53P|TACC2_ENST00000369004.3_Silent_p.P427P|TACC2_ENST00000334433.3_Silent_p.P2349P|TACC2_ENST00000358010.1_Silent_p.P495P|TACC2_ENST00000513429.1_Silent_p.P495P|TACC2_ENST00000260733.3_Silent_p.P427P|TACC2_ENST00000453444.2_Silent_p.P2353P|TACC2_ENST00000360561.3_Silent_p.P427P|TACC2_ENST00000515273.1_Silent_p.P2353P|TACC2_ENST00000515603.1_Silent_p.P2304P|TACC2_ENST00000368999.1_Silent_p.P427P|TACC2_ENST00000369001.1_Silent_p.P53P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2349	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATTTTAACCCTTTTTCTTCCA	0.468																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7045-7047)ccT>ccC		transforming, acidic coiled-coil containing protein 2		T	,,,	1,4405	2.1+/-5.4	0,1,2202	182.0	196.0	191.0		1281,1281,1485,7047	-3.4	1.0	10		191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,,	427/1027,427/997,495/1095,2349/2949	123970987	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970987T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7047T>C	10.37:g.123970987T>C						TACC2_ENST00000369000.1_Silent_p.P53P|TACC2_ENST00000515603.1_Silent_p.P2304P|TACC2_ENST00000369004.3_Silent_p.P427P|TACC2_ENST00000453444.2_Silent_p.P2353P|TACC2_ENST00000360561.3_Silent_p.P427P|TACC2_ENST00000358010.1_Silent_p.P495P|TACC2_ENST00000260733.3_Silent_p.P427P|TACC2_ENST00000369001.1_Silent_p.P53P|TACC2_ENST00000513429.1_Silent_p.P495P|TACC2_ENST00000515273.1_Silent_p.P2353P|TACC2_ENST00000334433.3_Silent_p.P2349P|TACC2_ENST00000368999.1_Silent_p.P427P	p.P2349P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7387	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2349			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.7047T>C	CCDS7626.1																																																																																				0.468	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	219	0	0	0	0.009096	0	4	219				
F8	2157	broad.mit.edu	37	X	154157148	154157148	+	Silent	SNP	G	G	A	rs147629393		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:154157148G>A	ENST00000360256.4	-	14	5117	c.4917C>T	c.(4915-4917)ccC>ccT	p.P1639P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1639	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P1639P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCTATTTCGGGCTTATTTT	0.423																																						ENST00000360256.4																			2	Substitution - coding silent(2)	p.P1639P(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4915-4917)ccC>ccT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	G		2,3833		0,2,1630,571	135.0	123.0	127.0		4917	1.1	0.0	X	dbSNP_134	127	0,6728		0,0,2428,1872	no	coding-synonymous	F8	NM_000132.3		0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189		1639/2352	154157148	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157148G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4917C>T	X.37:g.154157148G>A							p.P1639P	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5117	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1639			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4917C>T	CCDS35457.1																																																																																				0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			25	77	0	0	0	0.091800	0	25	77				
COL19A1	1310	broad.mit.edu	37	6	70866046	70866046	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:70866046G>A	ENST00000322773.4	+	32	2209	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	COL19A1_ENST00000393344.1_Missense_Mutation_p.V325I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	703	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAAGCCAGTGTCCCAGGGCT	0.463																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2107-2109)Gtc>Atc		collagen, type XIX, alpha 1							91.0	80.0	84.0					6																	70866046		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866046G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2107G>A	6.37:g.70866046G>A	ENSP00000316030:p.Val703Ile					COL19A1_ENST00000393344.1_Missense_Mutation_p.V325I	p.V703I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			32	2209	+			703			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2107G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566750	0.28003	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91686	-2.89;-2.83	5.14	3.28	0.37604	.	0.190266	0.33235	N	0.005122	T	0.71134	0.3304	N	0.11724	0.165	0.35597	D	0.807571	B	0.31256	0.316	B	0.32022	0.139	T	0.65874	-0.6062	10	0.25106	T	0.35	.	7.7615	0.28955	0.2071:0.0:0.7929:0.0	.	703	Q14993	COJA1_HUMAN	I	703;325	ENSP00000316030:V703I;ENSP00000377013:V325I	ENSP00000316030:V703I	V	+	1	0	COL19A1	70922767	0.987000	0.35691	0.987000	0.45799	0.867000	0.49689	0.941000	0.29005	1.111000	0.41721	0.563000	0.77884	GTC		0.463	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	7	0	0	0	0.047766	0	9	7				
PPEF1	5475	broad.mit.edu	37	X	18842187	18842187	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1648-1650)Gaa>Aaa		protein phosphatase, EF-hand calcium binding domain 1							104.0	89.0	94.0					X																	18842187		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842187G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1648G>A	X.37:g.18842187G>A	ENSP00000354871:p.Glu550Lys					PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K	p.E550K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			17	2142	+	Hepatocellular(33;0.183)		550					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1648G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988217	0.18966	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.2	3.33	0.38152	.	1.681740	0.02951	N	0.141693	T	0.29158	0.0725	L	0.33245	0.995	0.09310	N	1	B;B;P	0.38078	0.386;0.323;0.617	B;B;B	0.30855	0.085;0.079;0.121	T	0.20371	-1.0277	10	0.12430	T	0.62	-5.4647	6.7829	0.23657	0.1951:0.4337:0.3712:0.0	.	488;550;522	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	550;497;488;485	ENSP00000354871:E550K;ENSP00000352806:E497K;ENSP00000341892:E488K;ENSP00000441289:E485K	ENSP00000341892:E488K	E	+	1	0	PPEF1	18752108	0.005000	0.15991	0.090000	0.20809	0.110000	0.19582	-0.065000	0.11617	1.105000	0.41606	0.600000	0.82982	GAA		0.463	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		13	27	0	0	0	0.093190	0	13	27				
PROSER1	80209	broad.mit.edu	37	13	39587564	39587564	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr13:39587564T>C	ENST00000352251.3	-	11	2658	c.1825A>G	c.(1825-1827)Act>Gct	p.T609A	PROSER1_ENST00000350125.3_Missense_Mutation_p.T587A|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	609	Ser-rich.																GTGGGCTCAGTTTTGATCATA	0.532																																						ENST00000352251.3																			0											c.(1825-1827)Act>Gct		proline and serine rich 1							156.0	165.0	162.0					13																	39587564		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587564T>C	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1825A>G	13.37:g.39587564T>C	ENSP00000332034:p.Thr609Ala					PROSER1_ENST00000350125.3_Missense_Mutation_p.T587A|PROSER1_ENST00000484434.2_Intron	p.T609A	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	2658	-			609			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1825A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543131	0.45280	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	5.01	2.56	0.30785	.	.	.	.	.	T	0.30510	0.0767	L	0.29908	0.895	0.26349	N	0.977236	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.005	T	0.22138	-1.0225	8	.	.	.	-11.4859	4.3114	0.10972	0.1459:0.1602:0.0:0.6939	.	587;609	A6NJ97;Q86XN7	.;PRSR1_HUMAN	A	609;587	ENSP00000332034:T609A;ENSP00000339123:T587A	.	T	-	1	0	PROSER1	38485564	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	1.674000	0.37544	0.336000	0.23639	0.459000	0.35465	ACT		0.532	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		18	106	0	0	0	0.043863	0	18	106				
MALAT1	378938	broad.mit.edu	37	11	65268525	65268525	+	lincRNA	SNP	A	A	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:65268525A>C	ENST00000534336.1	+	0	3293				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGAATTTGATAGCCAAATTGA	0.348																																						ENST00000534336.1																			0																				102.0	110.0	108.0					11																	65268525		874	1988	2862			0							g.chr11:65268525A>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268525A>C								NR_002819.2						0	3293	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.348	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		25	51	0	0	0	0.091800	0	25	51				
RAI1	10743	broad.mit.edu	37	17	17696275	17696275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:17696275C>T	ENST00000353383.1	+	3	482	c.13C>T	c.(13-15)Cga>Tga	p.R5*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.R5*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	5					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTCTTTTCGAGAAAGGTG	0.562																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(13-15)Cga>Tga		retinoic acid induced 1							41.0	43.0	43.0					17																	17696275		2203	4300	6503	SO:0001587	stop_gained	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696275C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.13C>T	17.37:g.17696275C>T	ENSP00000323074:p.Arg5*					RAI1_ENST00000261641.6_Nonsense_Mutation_p.R5*	p.R5*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	482	+			5					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	37	c.13C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	39	7.537132	0.98345	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.45	3.45	0.39498	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0824	0.59121	0.1623:0.8377:0.0:0.0	.	.	.	.	X	5	.	ENSP00000261641:R5X	R	+	1	2	RAI1	17637000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.696000	0.47052	0.811000	0.34303	0.462000	0.41574	CGA		0.562	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		17	10	0	0	0	0.043863	0	17	10				
HDAC5	10014	broad.mit.edu	37	17	42170141	42170141	+	Silent	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:42170141G>A	ENST00000393622.2	-	7	1006	c.675C>T	c.(673-675)tcC>tcT	p.S225S	HDAC5_ENST00000586802.1_Silent_p.S225S|HDAC5_ENST00000225983.6_Silent_p.S226S|HDAC5_ENST00000336057.5_Silent_p.S225S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	225					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCTGGGGAGGGGAACTCTGGT	0.642																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(676-678)tcC>tcT		histone deacetylase 5							15.0	19.0	17.0					17																	42170141		2106	4192	6298	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170141G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.675C>T	17.37:g.42170141G>A						HDAC5_ENST00000586802.1_Silent_p.S225S|HDAC5_ENST00000336057.5_Silent_p.S225S|HDAC5_ENST00000393622.2_Silent_p.S225S	p.S226S			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	7	1001	-		Breast(137;0.00637)|Prostate(33;0.0313)	225					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.678C>T	CCDS45696.1																																																																																				0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		11	20	0	0	0	0.080935	0	11	20				
C5orf42	65250	broad.mit.edu	37	5	37157920	37157920	+	Intron	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:37157920T>C	ENST00000508244.1	-	39	7906				C5orf42_ENST00000425232.2_Intron|C5orf42_ENST00000274258.7_Silent_p.L1501L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTAATTCCTGTAGAAGATCAT	0.358																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4501-4503)ctA>ctG		chromosome 5 open reading frame 42							77.0	70.0	72.0					5																	37157920		2203	4300	6503	SO:0001627	intron_variant	65250							g.chr5:37157920T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7813-4A>G	5.37:g.37157920T>C						C5orf42_ENST00000425232.2_Intron|C5orf42_ENST00000508244.1_Intron	p.L1501L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		40	8090	-	all_lung(31;0.000616)		2604					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4503A>G	CCDS34146.2																																																																																				0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		7	13	0	0	0	0.029380	0	7	13				
USP9X	8239	broad.mit.edu	37	X	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:40988337G>T	ENST00000324545.8	+	3	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	61					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-183)Gaa>Taa		ubiquitin specific peptidase 9, X-linked							106.0	97.0	100.0					X																	40988337		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40988337G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.181G>T	X.37:g.40988337G>T	ENSP00000316357:p.Glu61*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			3	814	+			61					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.181G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730175	0.97796	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.195	0.89818	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000316357:E61X	E	+	1	0	USP9X	40873281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.234000	0.73211	0.600000	0.82982	GAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	15	1	0	1.52009e-12	0.132662	1.90011e-12	14	15				
RHOQ	23433	broad.mit.edu	37	2	46803383	46803383	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:46803383G>A	ENST00000238738.4	+	3	678	c.359G>A	c.(358-360)gGa>gAa	p.G120E	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	120					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATTAATAGGAACTCAGGTA	0.418																																						ENST00000238738.4																			0				skin(2)	2						c.(358-360)gGa>gAa		ras homolog family member Q							64.0	63.0	63.0					2																	46803383		2203	4300	6503	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803383G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.359G>A	2.37:g.46803383G>A	ENSP00000238738:p.Gly120Glu					RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	p.G120E	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	678	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	120					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.359G>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304873	0.95601	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	D;D	0.85773	-2.03;-2.03	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.99955	5.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	120	P17081	RHOQ_HUMAN	E	120;41	ENSP00000238738:G120E;ENSP00000428006:G41E	ENSP00000238738:G120E	G	+	2	0	RHOQ	46656887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.882000	0.98803	0.655000	0.94253	GGA		0.418	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		12	18	0	0	0	0.080935	0	12	18				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	61	0	0	0	0.115264	0	3	61				
SORCS3	22986	broad.mit.edu	37	10	106974207	106974207	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:106974207C>T	ENST00000369701.3	+	18	2610	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	SORCS3_ENST00000369699.4_Missense_Mutation_p.R81W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	795					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGGTATCGGCGGATTGTGTC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2383-2385)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 3							124.0	103.0	110.0					10																	106974207		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974207C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2383C>T	10.37:g.106974207C>T	ENSP00000358715:p.Arg795Trp					SORCS3_ENST00000369699.4_Missense_Mutation_p.R81W	p.R795W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2610	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	795					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2383C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.015744	0.75161	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.69040	-0.37;-0.37	5.89	2.53	0.30540	VPS10 (1);PKD domain (1);	0.108661	0.64402	D	0.000007	T	0.79137	0.4395	M	0.75615	2.305	0.41621	D	0.988964	D	0.89917	1.0	D	0.67548	0.952	T	0.79001	-0.1981	9	.	.	.	.	14.6343	0.68678	0.7352:0.2648:0.0:0.0	.	795	Q9UPU3	SORC3_HUMAN	W	795;81	ENSP00000358715:R795W;ENSP00000358713:R81W	.	R	+	1	2	SORCS3	106964197	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	3.965000	0.56788	0.227000	0.20999	0.558000	0.71614	CGG		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	15	0	0	0	0.058154	0	8	15				
DCPS	28960	broad.mit.edu	37	11	126201357	126201357	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:126201357G>A	ENST00000263579.4	+	3	763	c.434G>A	c.(433-435)cGc>cAc	p.R145H	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	145					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.R145H(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AAGTACCTGCGCCAGGACCTC	0.557																																						ENST00000263579.4																			1	Substitution - Missense(1)	p.R145H(1)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(433-435)cGc>cAc		decapping enzyme, scavenger							129.0	122.0	124.0					11																	126201357		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126201357G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.434G>A	11.37:g.126201357G>A	ENSP00000263579:p.Arg145His					DCPS_ENST00000530860.1_3'UTR	p.R145H	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	3	763	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	145					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.434G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164179	0.38217	.	.	ENSG00000110063	ENST00000263579	T	0.43688	0.94	5.84	3.99	0.46301	Scavenger mRNA decapping enzyme, N-terminal (1);	0.160576	0.64402	N	0.000016	T	0.25938	0.0632	N	0.17901	0.54	0.45403	D	0.998389	B	0.06786	0.001	B	0.04013	0.001	T	0.04870	-1.0921	10	0.44086	T	0.13	-14.2084	7.673	0.28470	0.3127:0.0:0.6873:0.0	.	145	Q96C86	DCPS_HUMAN	H	145	ENSP00000263579:R145H	ENSP00000263579:R145H	R	+	2	0	DCPS	125706567	0.970000	0.33590	1.000000	0.80357	0.987000	0.75469	1.377000	0.34317	0.831000	0.34780	0.655000	0.94253	CGC		0.557	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		4	96	0	0	0	0.009096	0	4	96				
RGPD4	285190	broad.mit.edu	37	2	108477236	108477236	+	Missense_Mutation	SNP	T	T	G	rs189216330	byFrequency	TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:108477236T>G	ENST00000408999.3	+	13	1850	c.1773T>G	c.(1771-1773)aaT>aaG	p.N591K	RGPD4_ENST00000354986.4_Missense_Mutation_p.N591K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	591					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGGTCTTAATTCTTTTTATG	0.323																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1771-1773)aaT>aaG		RANBP2-like and GRIP domain containing 4							170.0	122.0	137.0					2																	108477236		692	1588	2280	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108477236T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1773T>G	2.37:g.108477236T>G	ENSP00000386810:p.Asn591Lys					RGPD4_ENST00000354986.4_Missense_Mutation_p.N591K	p.N591K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			13	1850	+			591					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1773T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	3.853	-0.031503	0.07543	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38077	1.16;1.16	2.6	2.6	0.31112	.	.	.	.	.	T	0.49115	0.1538	M	0.67953	2.075	0.29299	N	0.868807	D	0.71674	0.998	D	0.75484	0.986	T	0.41034	-0.9531	9	0.15952	T	0.53	-17.7891	5.7428	0.18104	0.0:0.1426:0.0:0.8574	.	591	Q7Z3J3	RGPD4_HUMAN	K	591;591;349	ENSP00000347081:N591K;ENSP00000386810:N591K	ENSP00000347081:N591K	N	+	3	2	RGPD4	107843668	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	2.606000	0.46291	1.068000	0.40764	0.128000	0.15822	AAT		0.323	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		38	65	0	0	0	0.104719	0	38	65				
MIB1	57534	broad.mit.edu	37	18	19378075	19378075	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr18:19378075A>T	ENST00000261537.6	+	8	1387	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	375					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTACAACAGATTTATTCAGA	0.378																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1123-1125)Att>Ttt		mindbomb E3 ubiquitin protein ligase 1							130.0	129.0	129.0					18																	19378075		2203	4299	6502	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19378075A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1123A>T	18.37:g.19378075A>T	ENSP00000261537:p.Ile375Phe					MIB1_ENST00000578646.1_3'UTR	p.I375F	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		8	1387	+			375					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1123A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900618	0.72754	.	.	ENSG00000101752	ENST00000261537	T	0.41400	1.0	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.82823	2.61	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.66085	-0.6011	10	0.72032	D	0.01	-16.5214	15.3585	0.74448	1.0:0.0:0.0:0.0	.	375	Q86YT6	MIB1_HUMAN	F	375	ENSP00000261537:I375F	ENSP00000261537:I375F	I	+	1	0	MIB1	17632073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.271000	0.95698	2.089000	0.63090	0.491000	0.48974	ATT		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		10	33	0	0	0	0.058154	0	10	33				
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:109757309T>C	ENST00000521072.2	-	2	809	c.229A>G	c.(229-231)Agg>Ggg	p.R77G	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Missense_Mutation_p.R77G|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)Agg>Ggg		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309T>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229A>G	6.37:g.109757309T>C	ENSP00000427929:p.Arg77Gly					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Missense_Mutation_p.R77G	p.R77G	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.229A>G	CCDS5074.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679091	0.68042	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	T;T	0.20738	2.05;2.05	5.48	-0.419	0.12340	.	0.265381	0.36628	N	0.002482	T	0.14527	0.0351	M	0.67953	2.075	0.80722	D	1	D;P	0.54047	0.964;0.93	P;B	0.44477	0.451;0.306	T	0.21724	-1.0237	10	0.87932	D	0	-11.9471	13.9445	0.64075	0.0:0.0:0.4992:0.5008	.	77;77	A9NIU9;Q8IXY8	.;PPIL6_HUMAN	G	77	ENSP00000392257:R77G;ENSP00000427929:R77G	ENSP00000392257:R77G	R	-	1	2	PPIL6	109864002	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	0.738000	0.26158	0.012000	0.14892	0.533000	0.62120	AGG		0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			3	97	0	0	0	0.115264	0	3	97				
CENPI	2491	broad.mit.edu	37	X	100383791	100383791	+	Silent	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:100383791G>A	ENST00000372927.1	+	11	1438	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	CENPI_ENST00000372926.1_Silent_p.R387R|CENPI_ENST00000423383.1_Silent_p.R387R|CENPI_ENST00000218507.5_Silent_p.R387R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	387					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTGCTGAGGTTTTATTACT	0.413																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1159-1161)agG>agA		centromere protein I							185.0	157.0	166.0					X																	100383791		2203	4300	6503	SO:0001819	synonymous_variant	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100383791G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1161G>A	X.37:g.100383791G>A						CENPI_ENST00000372926.1_Silent_p.R387R|CENPI_ENST00000423383.1_Silent_p.R387R|CENPI_ENST00000218507.5_Silent_p.R387R	p.R387R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			11	1438	+			387					Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	c.1161G>A	CCDS14479.1																																																																																				0.413	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		25	43	0	0	0	0.091800	0	25	43				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	11	0	0	0	0.080935	0	11	11				
JAKMIP3	282973	broad.mit.edu	37	10	133930583	133930583	+	Silent	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:133930583C>T	ENST00000298622.4	+	2	276	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	46						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTTTCAGGTCAGCAAAGTGG	0.572																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(136-138)gtC>gtT		Janus kinase and microtubule interacting protein 3							36.0	39.0	38.0					10																	133930583		2152	4249	6401	SO:0001819	synonymous_variant	282973							g.chr10:133930583C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.138C>T	10.37:g.133930583C>T							p.V46V	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	276	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.138C>T	CCDS44494.1																																																																																				0.572	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		9	32	0	0	0	0.069234	0	9	32				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	40	0	0	0	0.009096	0	4	40				
HLA-DMB	3109	broad.mit.edu	37	6	32906598	32906598	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:32906598C>T	ENST00000418107.2	-	2	462	c.200G>A	c.(199-201)gGg>gAg	p.G67E	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99E|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.G67E|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	67	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTCAGCACCCCAAATTCGCA	0.517																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(199-201)gGg>gAg		major histocompatibility complex, class II, DM beta							117.0	119.0	118.0					6																	32906598		1511	2709	4220	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906598C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.200G>A	6.37:g.32906598C>T	ENSP00000398890:p.Gly67Glu					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G67E|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99E	p.G67E			P28068	DMB_HUMAN			2	394	-			67			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.200G>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409371	0.62399	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.38722	1.12;1.12;1.12	5.07	5.07	0.68467	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.237339	0.29178	N	0.012901	T	0.56202	0.1969	M	0.74258	2.255	0.43444	D	0.995629	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.56402	-0.7985	9	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	67;67;76	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	E	67;67;67;99	ENSP00000398890:G67E;ENSP00000391010:G67E;ENSP00000412457:G99E	.	G	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014576	0.986000	0.35501	0.967000	0.41034	0.365000	0.29674	3.499000	0.53310	2.631000	0.89168	0.637000	0.83480	GGG		0.517	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		23	25	0	0	0	0.069288	0	23	25				
KCNK12	56660	broad.mit.edu	37	2	47797390	47797392	+	In_Frame_Del	DEL	GCA	GCA	-	rs544771897	byFrequency	TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:47797390_47797392delGCA	ENST00000327876.4	-	1	686_688	c.79_81delTGC	c.(79-81)tgcdel	p.C27del	KCNK12_ENST00000493527.1_5'UTR|AC138655.1_ENST00000601243.1_5'Flank	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	27	Poly-Cys.					integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCGAAcggcggcagcagcagcag	0.759																																						ENST00000327876.3																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|prostate(1)	NS(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(79-81)del		potassium channel, subfamily K, member 12				47,2507		8,31,1238						3.3	1.0			3	139,5253		13,113,2570	no	coding	KCNK12	NM_022055.1		21,144,3808	A1A1,A1R,RR		2.5779,1.8403,2.3408				186,7760				SO:0001651	inframe_deletion	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47797390_47797392delGCA	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.79_81delTGC	2.37:g.47797399_47797401delGCA	ENSP00000327611:p.Cys27del					KCNK12_ENST00000493527.1_5'UTR	p.C27del	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	686_688	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	27			Poly-Cys.			In_Frame_Del	DEL	ENST00000327876.4	37	c.79_81delTGC	CCDS1835.1																																																																																				0.759	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		2	4						2	4	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814143	53814143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:53814143delC	ENST00000326277.3	+	1	551	c.361delC	c.(361-363)ccgfs	p.P122fs	SNX18_ENST00000343017.6_Frame_Shift_Del_p.P122fs|SNX18_ENST00000381410.4_Frame_Shift_Del_p.P122fs	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	122					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CACCTTCCAGCCGCCCGGCGC	0.746																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(361-363)cgfs		sorting nexin 18							2.0	3.0	2.0					5																	53814143		1004	2269	3273	SO:0001589	frameshift_variant	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814143delC	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.361delC	5.37:g.53814143delC	ENSP00000317332:p.Pro122fs					SNX18_ENST00000326277.3_Frame_Shift_Del_p.P122fs|SNX18_ENST00000381410.4_Frame_Shift_Del_p.P122fs	p.P122fs	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	555	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	122					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Del	DEL	ENST00000326277.3	37	c.361delC	CCDS3962.1																																																																																				0.746	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			2	4						2	4	---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99220481	99220481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:99220481delG	ENST00000438925.2	-	25	2775	c.2440delC	c.(2440-2442)catfs	p.H814fs	MMS19_ENST00000327238.10_Frame_Shift_Del_p.H716fs|MMS19_ENST00000370782.2_Frame_Shift_Del_p.H814fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000355839.6_Frame_Shift_Del_p.H771fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	814					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGAGAGGATGGTATCTGAGC	0.488								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(2440-2442)atfs	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							82.0	76.0	78.0					10																	99220481		2203	4300	6503	SO:0001589	frameshift_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99220481delG	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2440delC	10.37:g.99220481delG	ENSP00000412698:p.His814fs					MMS19_ENST00000370782.2_Frame_Shift_Del_p.H814fs|MMS19_ENST00000355839.6_Frame_Shift_Del_p.H771fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Frame_Shift_Del_p.H716fs	p.H814fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	25	2775	-		Colorectal(252;0.0846)	814					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Frame_Shift_Del	DEL	ENST00000438925.2	37	c.2440delC	CCDS7464.1																																																																																				0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			2	4						2	4	---	---	---	---
CTSA	5476	broad.mit.edu	37	20	44520006	44520007	+	5'UTR	INS	-	-	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr20:44520006_44520007insT	ENST00000191018.5	+	0	27_28				NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000354880.5_Frame_Shift_Ins_p.G15fs|CTSA_ENST00000372484.3_Frame_Shift_Ins_p.G15fs|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A						glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGCAAGGACGCGGGGGAGCAGA	0.698																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(40-45)cgggggfs		cathepsin A																																				SO:0001623	5_prime_UTR_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520006_44520007insT	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000191018.5:c.-58->T	20.37:g.44520006_44520007insT						CTSA_ENST00000354880.5_Frame_Shift_Ins_p.RG14fs|CTSA_ENST00000191018.5_5'UTR	p.RG14fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			1	324_325	+		Myeloproliferative disorder(115;0.0122)	0					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Ins	INS	ENST00000191018.5	37	c.42_43insT	CCDS46609.1																																																																																				0.698	CTSA-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080500.1	NM_000308		2	4						2	4	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	8						4	8	---	---	---	---
