#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
ZNF646	9726	broad.mit.edu	37	16	31090150	31090150	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:31090150C>T	ENST00000394979.2	+	1	2928	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	ZNF646_ENST00000300850.5_Silent_p.G835G			O15015	ZN646_HUMAN	zinc finger protein 646	835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGCCACTGGCCTGCTGAGCC	0.622																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2503-2505)ggC>ggT		zinc finger protein 646							84.0	89.0	87.0					16																	31090150		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090150C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2505C>T	16.37:g.31090150C>T						ZNF646_ENST00000300850.5_Silent_p.G835G	p.G835G			O15015	ZN646_HUMAN			1	2928	+			835					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2505C>T																																																																																					0.622	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		52	160	0	0	0	1	0	52	160				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	25	0	0	0	1	0	4	25				
CLDN6	9074	broad.mit.edu	37	16	3065626	3065626	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:3065626G>A	ENST00000396925.1	-	3	825	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L133L|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	133					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACGGGGATTAGCGTCAGGACC	0.607																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(397-399)Cta>Tta		claudin 6							30.0	31.0	31.0					16																	3065626		2198	4298	6496	SO:0001819	synonymous_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065626G>A	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.397C>T	16.37:g.3065626G>A						CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L133L	p.L133L			P56747	CLD6_HUMAN			3	825	-			133					B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	c.397C>T	CCDS10488.1																																																																																				0.607	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		10	72	0	0	0	1	0	10	72				
SPATS2L	26010	broad.mit.edu	37	2	201284007	201284007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:201284007A>G	ENST00000358677.5	+	6	480	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	78						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCCAAGCAGCATCAAGGCAAC	0.448																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(232-234)cAt>cGt		spermatogenesis associated, serine-rich 2-like							30.0	32.0	32.0					2																	201284007		1893	4114	6007	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201284007A>G	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.233A>G	2.37:g.201284007A>G	ENSP00000351503:p.His78Arg					SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R|SPATS2L_ENST00000358677.4_Missense_Mutation_p.H78R	p.H78R	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			6	756	+			78					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.233A>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000763	0.54254	.	.	ENSG00000196141	ENST00000439084;ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000439395;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000007	T	0.67785	0.2930	L	0.40543	1.245	0.46044	D	0.998833	D;D;D	0.76494	0.997;0.999;0.987	D;D;D	0.80764	0.994;0.994;0.979	T	0.68334	-0.5436	9	0.49607	T	0.09	-18.8418	14.4025	0.67056	1.0:0.0:0.0:0.0	.	108;78;78	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	R	78;78;78;78;18;78;78;78;78;78;78;78;78;108;86;78;78;73	.	ENSP00000351503:H78R	H	+	2	0	SPATS2L	200992252	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.328000	0.65887	2.275000	0.75901	0.528000	0.53228	CAT		0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		7	18	0	0	0	1	0	7	18				
ZCCHC4	29063	broad.mit.edu	37	4	25315728	25315728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr4:25315728C>T	ENST00000302874.4	+	2	212	c.188C>T	c.(187-189)gCc>gTc	p.A63V	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	63							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AGGTTTTATGCCTGTTCAGCC	0.333																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(187-189)gCc>gTc		zinc finger, CCHC domain containing 4							165.0	158.0	160.0					4																	25315728		1790	4072	5862	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25315728C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.188C>T	4.37:g.25315728C>T	ENSP00000303468:p.Ala63Val					ZCCHC4_ENST00000505451.1_3'UTR	p.A63V	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			2	212	+		Breast(46;0.0503)	63					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.188C>T	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142183	0.94560	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.23552	1.9	5.77	5.77	0.91146	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44711	-0.9310	10	0.46703	T	0.11	1.9674	18.7722	0.91896	0.0:1.0:0.0:0.0	.	63	Q9H5U6	ZCHC4_HUMAN	V	63;39	ENSP00000303468:A63V	ENSP00000303468:A63V	A	+	2	0	ZCCHC4	24924826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.898000	0.75676	2.726000	0.93360	0.650000	0.86243	GCC		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			5	343	0	0	0	1	0	5	343				
XXYLT1	152002	broad.mit.edu	37	3	194790640	194790640	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:194790640C>T	ENST00000310380.6	-	4	1094	c.986G>A	c.(985-987)gGg>gAg	p.G329E	XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	329						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GTCCTGGTCCCCGAGGTGGCC	0.652																																						ENST00000310380.6																			0											c.(985-987)gGg>gAg		xyloside xylosyltransferase 1							59.0	65.0	63.0					3																	194790640		2071	4199	6270	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790640C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.986G>A	3.37:g.194790640C>T	ENSP00000309640:p.Gly329Glu					XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR	p.G329E	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1094	-			329					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.986G>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396294	0.96009	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.66276	-0.5964	10	0.87932	D	0	-18.1205	19.2443	0.93896	0.0:1.0:0.0:0.0	.	329;126;123	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	E	329;126;126;183;123;125	ENSP00000309640:G329E;ENSP00000409865:G126E;ENSP00000347967:G126E;ENSP00000399422:G183E;ENSP00000349179:G123E	ENSP00000309640:G329E	G	-	2	0	C3orf21	196271929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.797000	0.96272	0.563000	0.77884	GGG		0.652	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		31	91	0	0	0	1	0	31	91				
RABEP1	9135	broad.mit.edu	37	17	5264854	5264854	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:5264854C>A	ENST00000546142.2	+	9	1634	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	RABEP1_ENST00000262477.6_Missense_Mutation_p.Q483K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|NUP88_ENST00000573169.1_5'UTR			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GACACCAGAACAAGAAGAGAC	0.478																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1447-1449)Caa>Aaa		rabaptin, RAB GTPase binding effector protein 1							125.0	128.0	127.0					17																	5264854		2120	4218	6338	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264854C>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1447C>A	17.37:g.5264854C>A	ENSP00000437701:p.Gln483Lys					RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K	p.Q483K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1671	+			483					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1447C>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864530	0.91511	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.53206	0.64;0.67;0.64;0.67;0.63	5.54	5.54	0.83059	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	L	0.52573	1.65	0.80722	D	1	P;B;P;P;B	0.42941	0.592;0.432;0.794;0.698;0.379	B;B;P;P;P	0.48952	0.187;0.159;0.596;0.451;0.491	T	0.37502	-0.9703	10	0.05833	T	0.94	-15.2066	18.8588	0.92264	0.0:1.0:0.0:0.0	.	440;440;476;483;483	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	K	483;483;476;483;483;440	ENSP00000262477:Q483K;ENSP00000386150:Q483K;ENSP00000437701:Q483K;ENSP00000339569:Q483K;ENSP00000445408:Q440K	ENSP00000262477:Q483K	Q	+	1	0	RABEP1	5205578	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.686000	0.84128	2.779000	0.95612	0.655000	0.94253	CAA		0.478	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		41	75	1	0	1.57019e-19	1	1.65284e-19	41	75				
LRRC7	57554	broad.mit.edu	37	1	70493911	70493911	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:70493911G>C	ENST00000035383.5	+	16	1768	c.1738G>C	c.(1738-1740)Gta>Cta	p.V580L	LRRC7_ENST00000310961.5_Missense_Mutation_p.V585L|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	580						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGAATATGGTAAAATCTGT	0.338																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1753-1755)Gta>Cta		leucine rich repeat containing 7							82.0	86.0	84.0					1																	70493911		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493911G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1738G>C	1.37:g.70493911G>C	ENSP00000035383:p.Val580Leu					LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L	p.V585L			Q96NW7	LRRC7_HUMAN			19	2171	+			580					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1753G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914878	0.92178	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.10860	2.83;2.83	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.01767	-1.1278	10	0.48119	T	0.1	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	580	Q96NW7	LRRC7_HUMAN	L	585;580;403	ENSP00000309245:V585L;ENSP00000035383:V580L	ENSP00000035383:V580L	V	+	1	0	LRRC7	70266499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.812000	0.96745	0.557000	0.71058	GTA		0.338	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		53	153	0	0	0	1	0	53	153				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	250	0	0	0	1	0	4	250				
B3GNTL1	146712	broad.mit.edu	37	17	80923550	80923550	+	Missense_Mutation	SNP	C	C	G	rs142904836		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:80923550C>G	ENST00000320865.3	-	7	590	c.577G>C	c.(577-579)Ggc>Cgc	p.G193R	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.G82R|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	193							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTAAAGGGGCCCACGTGGGAG	0.592																																						ENST00000576599.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(244-246)Ggc>Cgc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1							43.0	39.0	41.0					17																	80923550		2203	4299	6502	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80923550C>G	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.577G>C	17.37:g.80923550C>G	ENSP00000319979:p.Gly193Arg					B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R	p.G82R			Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		7	994	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	193					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.244G>C	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142214	0.77775	.	.	ENSG00000175711	ENST00000320865	T	0.58652	0.32	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82236	-0.0557	9	.	.	.	-23.8828	15.7877	0.78319	0.0:1.0:0.0:0.0	.	193	Q67FW5	B3GNL_HUMAN	R	193	ENSP00000319979:G193R	.	G	-	1	0	B3GNTL1	78516839	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	6.020000	0.70826	2.428000	0.82296	0.462000	0.41574	GGC		0.592	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		12	17	0	0	0	1	0	12	17				
OR1M1	125963	broad.mit.edu	37	19	9204100	9204100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:9204100C>A	ENST00000429566.3	+	1	246	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCCATGTACTTCTTCCTGG	0.542																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(178-180)taC>taA		olfactory receptor, family 1, subfamily M, member 1							119.0	91.0	101.0					19																	9204100		2203	4300	6503	SO:0001587	stop_gained	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204100C>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.180C>A	19.37:g.9204100C>A	ENSP00000401966:p.Tyr60*						p.Y60*	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	246	+			60					B9EHA6|Q6IFJ3|Q96R91	Nonsense_Mutation	SNP	ENST00000429566.3	37	c.180C>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.749273	0.49257	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	.	.	.	3.49	-0.129	0.13502	.	0.000000	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3713	0.26802	0.0:0.6662:0.0:0.3338	.	.	.	.	X	63;60	.	ENSP00000303195:Y63X	Y	+	3	2	OR1M1	9065100	0.549000	0.26481	0.998000	0.56505	0.379000	0.30106	-0.004000	0.12878	-0.046000	0.13446	-0.497000	0.04613	TAC		0.542	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			5	179	1	0	0.014758	1	0.0149448	5	179				
CHST15	51363	broad.mit.edu	37	10	125805699	125805699	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:125805699C>T	ENST00000346248.5	-	2	672	c.30G>A	c.(28-30)caG>caA	p.Q10Q	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Silent_p.Q10Q|CHST15_ENST00000435907.1_Silent_p.Q10Q	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	10					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGTAACAGCTGTATGCAGC	0.607																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(28-30)caG>caA		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							46.0	46.0	46.0					10																	125805699		2202	4298	6500	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805699C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.30G>A	10.37:g.125805699C>T						CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Silent_p.Q10Q	p.Q10Q	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	672	-			10					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.30G>A	CCDS7638.1																																																																																				0.607	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		8	124	0	0	0	1	0	8	124				
IGSF11	152404	broad.mit.edu	37	3	118621746	118621746	+	Missense_Mutation	SNP	G	G	A	rs117543039	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:118621746G>A	ENST00000393775.2	-	7	1222	c.917C>T	c.(916-918)tCg>tTg	p.S306L	IGSF11_ENST00000425327.2_Missense_Mutation_p.S305L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S278L|IGSF11_ENST00000354673.2_Missense_Mutation_p.S305L|IGSF11_ENST00000489689.1_Missense_Mutation_p.S282L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S281L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	306					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGTTGTCCGAGGAGGAAAT	0.423													G|||	3	0.000599042	0.0008	0.0	5008	,	,		22716	0.002		0.0	False		,,,				2504	0.0					ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(913-915)tCg>tTg		immunoglobulin superfamily, member 11		G	LEU/SER,LEU/SER	2,4404	2.1+/-5.4	0,2,2201	115.0	120.0	118.0		917,914	5.4	1.0	3	dbSNP_132	118	0,8600		0,0,4300	yes	missense,missense	IGSF11	NM_001015887.1,NM_152538.2	145,145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	306/432,305/431	118621746	2,13004	2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621746G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.917C>T	3.37:g.118621746G>A	ENSP00000377370:p.Ser306Leu					IGSF11_ENST00000489689.1_Missense_Mutation_p.S282L|IGSF11_ENST00000425327.2_Missense_Mutation_p.S305L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S281L|IGSF11_ENST00000393775.2_Missense_Mutation_p.S306L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S278L	p.S305L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1294	-			306					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.914C>T	CCDS46891.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	28.7	4.946352	0.92593	4.54E-4	0.0	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;D;D;T;D;D	0.87103	-1.31;-1.51;-2.21;-1.31;-2.16;-2.21	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	N	0.21373	0.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.992;0.997;0.997;0.992;0.992	D	0.89868	0.4021	10	0.52906	T	0.07	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	278;281;305;282;306	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	305;306;282;305;281;278	ENSP00000406092:S305L;ENSP00000377370:S306L;ENSP00000420486:S282L;ENSP00000346700:S305L;ENSP00000401240:S281L;ENSP00000417413:S278L	ENSP00000346700:S305L	S	-	2	0	IGSF11	120104436	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	TCG		0.423	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			5	217	0	0	0	1	0	5	217				
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(229-231)tgC>tgT		ubiquitin specific peptidase 54							120.0	108.0	112.0					10																	75331188		1901	4133	6034	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331188G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.231C>T	10.37:g.75331188G>A						USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C	p.C77C			Q70EL1	UBP54_HUMAN			3	331	-	Prostate(51;0.0112)		77					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.231C>T	CCDS7329.2																																																																																				0.433	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	147	0	0	0	1	0	4	147				
C9orf156	51531	broad.mit.edu	37	9	100667129	100667129	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:100667129C>T	ENST00000375119.3	-	5	1288	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	404					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAGTGACATGCGCTATGTCTA	0.552																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(1210-1212)gcG>gcA		chromosome 9 open reading frame 156							105.0	98.0	100.0					9																	100667129		2203	4300	6503	SO:0001819	synonymous_variant	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667129C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1212G>A	9.37:g.100667129C>T							p.A404A	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			5	1288	-		Acute lymphoblastic leukemia(62;0.158)	404					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Silent	SNP	ENST00000375119.3	37	c.1212G>A	CCDS6730.1																																																																																				0.552	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		4	164	0	0	0	1	0	4	164				
ABCC3	8714	broad.mit.edu	37	17	48735563	48735563	+	Missense_Mutation	SNP	G	G	A	rs376037553		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:48735563G>A	ENST00000285238.8	+	5	687	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	203					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AAAGAATGTCGACCCTGTGAG	0.567																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(607-609)Gac>Aac		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	131.0	121.0	124.0		607,607	3.0	0.0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC3	NM_001144070.1,NM_003786.3	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	203/573,203/1528	48735563	1,13005	2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48735563G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.607G>A	17.37:g.48735563G>A	ENSP00000285238:p.Asp203Asn					ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N	p.D203N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		5	687	+			203					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.607G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945137	0.53079	0.0	1.16E-4	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.87029	-2.2;-2.2	6.04	3.02	0.34903	.	0.119196	0.53938	D	0.000045	T	0.80819	0.4696	L	0.52011	1.625	0.47094	D	0.999317	B;B	0.27286	0.166;0.174	B;B	0.26202	0.026;0.067	T	0.72207	-0.4360	10	0.19147	T	0.46	-28.019	9.4014	0.38435	0.2199:0.0:0.7801:0.0	.	203;203	O15438;O15438-5	MRP3_HUMAN;.	N	203	ENSP00000395160:D203N;ENSP00000285238:D203N	ENSP00000285238:D203N	D	+	1	0	ABCC3	46090562	1.000000	0.71417	0.034000	0.17996	0.106000	0.19336	4.136000	0.58004	0.903000	0.36546	0.561000	0.74099	GAC		0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	226	0	0	0	1	0	5	226				
GNPTAB	79158	broad.mit.edu	37	12	102158081	102158081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:102158081C>T	ENST00000299314.7	-	13	2876	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	872					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTTCAGTAACGCCTATGTGA	0.383																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2614-2616)Gtt>Att		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							328.0	317.0	321.0					12																	102158081		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158081C>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2614G>A	12.37:g.102158081C>T	ENSP00000299314:p.Val872Ile						p.V872I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2876	-			872					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2614G>A	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318830	0.23994	.	.	ENSG00000111670	ENST00000299314	D	0.96136	-3.92	5.51	0.994	0.19832	.	0.734852	0.12695	N	0.446887	D	0.91050	0.7184	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80393	-0.1401	10	0.28530	T	0.3	-0.6606	6.5723	0.22545	0.0:0.5073:0.2642:0.2284	.	872	Q3T906	GNPTA_HUMAN	I	872	ENSP00000299314:V872I	ENSP00000299314:V872I	V	-	1	0	GNPTAB	100682212	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.596000	0.05720	0.274000	0.22072	0.655000	0.94253	GTT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			33	688	0	0	0	1	0	33	688				
RAB10	10890	broad.mit.edu	37	2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(76-78)cTt>cCt		RAB10, member RAS oncogene family							148.0	134.0	139.0					2																	26257554		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26257554T>C	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro						p.L26P	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			1	576	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.77T>C	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT		0.537	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		5	354	0	0	0	1	0	5	354				
NF1	4763	broad.mit.edu	37	17	29684022	29684022	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29684022A>T	ENST00000358273.4	+	53	8166	c.7783A>T	c.(7783-7785)Aaa>Taa	p.K2595*	NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATTTACGTAAAGTTTCAGT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	soft_tissue(8)|kidney(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7783-7785)Aaa>Taa		neurofibromin 1							198.0	188.0	191.0					17																	29684022		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684022A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7783A>T	17.37:g.29684022A>T	ENSP00000351015:p.Lys2595*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*	p.K2595*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8166	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2595					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7783A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	37	6.093351	0.97276	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.87	5.87	0.94306	.	0.104881	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	X	2595;2574;2240;388	.	ENSP00000348498:K2574X	K	+	1	0	NF1	26708148	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.398000	0.90195	2.371000	0.80710	0.533000	0.62120	AAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		92	350	0	0	0	1	0	92	350				
MPP7	143098	broad.mit.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:28378749C>T	ENST00000375732.1	-	12	1233	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000337532.5_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(973-975)cGt>cAt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	126.0	107.0	114.0		974	5.8	1.0	10	dbSNP_134	114	0,8600		0,0,4300	yes	missense	MPP7	NM_173496.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	325/577	28378749	3,13003	2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378749C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.974G>A	10.37:g.28378749C>T	ENSP00000364884:p.Arg325His					MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H	p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			13	1250	-			325					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.974G>A	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096882	0.94197	6.81E-4	0.0	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82711	-1.64;-1.64;-1.64;-1.64;1.43;-1.64	5.79	5.79	0.91817	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.88337	0.2972	10	0.30078	T	0.28	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	325	Q5T2T1	MPP7_HUMAN	H	325;325;325;325;86;200	ENSP00000364884:R325H;ENSP00000337907:R325H;ENSP00000438693:R325H;ENSP00000364871:R325H;ENSP00000398319:R86H;ENSP00000405397:R200H	ENSP00000337907:R325H	R	-	2	0	MPP7	28418755	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.726000	0.93360	0.655000	0.94253	CGT		0.313	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		15	119	0	0	0	1	0	15	119				
RAB36	9609	broad.mit.edu	37	22	23487582	23487582	+	Silent	SNP	T	T	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:23487582T>A	ENST00000263116.2	+	1	70	c.30T>A	c.(28-30)ctT>ctA	p.L10L	RAB36_ENST00000341989.4_Silent_p.L10L|RTDR1_ENST00000406876.1_5'Flank	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	10					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTGGATGCTTGGACGCGCCG	0.667																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(28-30)ctT>ctA		RAB36, member RAS oncogene family							53.0	59.0	57.0					22																	23487582		2203	4299	6502	SO:0001819	synonymous_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487582T>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.30T>A	22.37:g.23487582T>A						RAB36_ENST00000341989.4_Silent_p.L10L	p.L10L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	70	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		10					Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	c.30T>A	CCDS13805.1																																																																																				0.667	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		9	162	0	0	0	1	0	9	162				
RCBTB2	1102	broad.mit.edu	37	13	49075985	49075985	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:49075985T>C	ENST00000344532.3	-	12	1560	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	RCBTB2_ENST00000544492.1_Silent_p.T105T|RCBTB2_ENST00000430805.2_Silent_p.T384T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	379					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCAGCCACTGTGAGGTGGT	0.438																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1135-1137)acA>acG		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							83.0	72.0	76.0					13																	49075985		2203	4300	6503	SO:0001819	synonymous_variant	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49075985T>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1137A>G	13.37:g.49075985T>C						RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T	p.T379T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	12	1560	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	379					B2RDW8	Silent	SNP	ENST00000344532.3	37	c.1137A>G	CCDS9411.1																																																																																				0.438	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		11	58	0	0	0	1	0	11	58				
AHDC1	27245	broad.mit.edu	37	1	27877444	27877444	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27877444G>A	ENST00000247087.5	-	5	1779	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	AHDC1_ENST00000374011.2_Missense_Mutation_p.R395C			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	395	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTCCGCCGGCGACACAGGATC	0.716																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1183-1185)Cgc>Tgc		AT hook, DNA binding motif, containing 1							8.0	9.0	8.0					1																	27877444		2096	4070	6166	SO:0001583	missense	27245						DNA binding	g.chr1:27877444G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1183C>T	1.37:g.27877444G>A	ENSP00000247087:p.Arg395Cys					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C	p.R395C	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2151	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	395			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1183C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287561	0.80803	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.52057	0.68;0.68	5.64	5.64	0.86602	.	0.191804	0.25517	U	0.030130	T	0.46639	0.1403	N	0.14661	0.345	0.52099	D	0.999942	D	0.76494	0.999	P	0.54924	0.764	T	0.51926	-0.8643	10	0.66056	D	0.02	-12.3767	16.6135	0.84900	0.0:0.0:1.0:0.0	.	395	Q5TGY3	AHDC1_HUMAN	C	395	ENSP00000247087:R395C;ENSP00000363123:R395C	ENSP00000247087:R395C	R	-	1	0	AHDC1	27750031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.663000	0.90544	0.579000	0.79373	CGC		0.716	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	35	0	0	0	1	0	5	35				
SLC30A3	7781	broad.mit.edu	37	2	27479686	27479686	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:27479686G>A	ENST00000233535.4	-	6	1205	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	285					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTCGGAGGGTGGGAGCG	0.587																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(853-855)Ctc>Ttc		solute carrier family 30 (zinc transporter), member 3							86.0	93.0	91.0					2																	27479686		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479686G>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.853C>T	2.37:g.27479686G>A	ENSP00000233535:p.Leu285Phe					SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	p.L285F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			6	1205	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		285					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.853C>T	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201278	0.79015	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.67865	-0.29;-0.29;-0.29	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.964;0.998	P;D	0.79108	0.749;0.992	D	0.84180	0.0439	10	0.87932	D	0	-24.4226	16.9157	0.86150	0.0:0.0:1.0:0.0	.	280;285	F5H3B7;Q99726	.;ZNT3_HUMAN	F	285;280;222;236	ENSP00000233535:L285F;ENSP00000415226:L280F;ENSP00000414320:L236F	ENSP00000233535:L285F	L	-	1	0	SLC30A3	27333190	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	3.835000	0.55805	2.663000	0.90544	0.555000	0.69702	CTC		0.587	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			14	78	0	0	0	1	0	14	78				
TOM1L1	10040	broad.mit.edu	37	17	52993145	52993145	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:52993145G>A	ENST00000575882.1	+	7	995	c.642G>A	c.(640-642)atG>atA	p.M214I	TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	214	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGGTGAAAATGAATGTGCGAG	0.433																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(640-642)atG>atA		target of myb1 (chicken)-like 1							231.0	210.0	217.0					17																	52993145		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52993145G>A	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.642G>A	17.37:g.52993145G>A	ENSP00000460823:p.Met214Ile					TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I	p.M214I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			7	995	+			214			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.642G>A	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924678	0.92319	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.17	6.17	0.99709	GAT (2);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.997;0.999	D;D;D;D;D;D	0.87578	0.954;0.995;0.996;0.992;0.994;0.998	T	0.61446	-0.7061	10	0.66056	D	0.02	-21.2778	18.3732	0.90420	0.0:0.0:1.0:0.0	.	102;207;137;214;214;137	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	I	214;102;137;137	ENSP00000408958:M214I;ENSP00000441242:M102I;ENSP00000343901:M137I;ENSP00000443099:M137I	ENSP00000343901:M137I	M	+	3	0	TOM1L1	50348144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.189000	0.65098	2.941000	0.99782	0.655000	0.94253	ATG		0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		134	194	0	0	0	1	0	134	194				
WASF2	10163	broad.mit.edu	37	1	27736491	27736491	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27736491C>T	ENST00000430629.2	-	8	1249	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	345					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGAGGCGTCCCTGGAGACCC	0.627																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1033-1035)gGg>gAg		WAS protein family, member 2							100.0	107.0	105.0					1																	27736491		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736491C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1034G>A	1.37:g.27736491C>T	ENSP00000396211:p.Gly345Glu					WASF2_ENST00000536657.1_Intron	p.G345E	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1249	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	345					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.1034G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	5.740	0.320980	0.10845	.	.	ENSG00000158195	ENST00000430629	T	0.47177	0.85	4.58	-1.23	0.09465	.	1.292960	0.05122	N	0.490950	T	0.27384	0.0672	L	0.29908	0.895	0.28496	N	0.914242	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	10	0.02654	T	1	-0.3945	3.2353	0.06762	0.1326:0.3267:0.388:0.1527	.	345	Q9Y6W5	WASF2_HUMAN	E	345	ENSP00000396211:G345E	ENSP00000396211:G345E	G	-	2	0	WASF2	27609078	0.041000	0.20044	0.989000	0.46669	0.992000	0.81027	0.070000	0.14573	-0.202000	0.10268	0.551000	0.68910	GGG		0.627	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		22	150	0	0	0	1	0	22	150				
ZNF728	388523	broad.mit.edu	37	19	23159377	23159377	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:23159377T>A	ENST00000594710.1	-	4	907	c.762A>T	c.(760-762)aaA>aaT	p.K254N		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	254					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ATTTGTAATGTTTCTCTCCAG	0.403																																						ENST00000594710.1																			0											c.(760-762)aaA>aaT		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159377T>A	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.762A>T	19.37:g.23159377T>A	ENSP00000471593:p.Lys254Asn						p.K254N	NM_001267716.1	NP_001254645.1					4	907	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.762A>T	CCDS59370.1																																																																																				0.403	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		4	83	0	0	0	1	0	4	83				
GIMAP7	168537	broad.mit.edu	37	7	150217542	150217542	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:150217542C>T	ENST00000313543.4	+	2	637	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	160	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGTGCGGGAACCGCT	0.502																																						ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(478-480)tgC>tgT		GTPase, IMAP family member 7							70.0	60.0	64.0					7																	150217542		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217542C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.480C>T	7.37:g.150217542C>T							p.C160C	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	637	+			160						Silent	SNP	ENST00000313543.4	37	c.480C>T	CCDS5903.1																																																																																				0.502	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		4	95	0	0	0	1	0	4	95				
SEC61A1	29927	broad.mit.edu	37	3	127783859	127783859	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:127783859T>C	ENST00000243253.3	+	8	940	c.756T>C	c.(754-756)ttT>ttC	p.F252F	RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.F258F|SEC61A1_ENST00000424880.2_Silent_p.F132F|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	252					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTTTGTCTTTGCAGTGGTCA	0.532																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(754-756)ttT>ttC		Sec61 alpha 1 subunit (S. cerevisiae)							158.0	153.0	155.0					3																	127783859		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127783859T>C	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.756T>C	3.37:g.127783859T>C						SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Silent_p.F132F	p.F252F	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			8	940	+			252					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.756T>C	CCDS3046.1																																																																																				0.532	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		88	228	0	0	0	1	0	88	228				
CCDC108	255101	broad.mit.edu	37	2	219895995	219895995	+	Missense_Mutation	SNP	G	G	A	rs368823962		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:219895995G>A	ENST00000341552.5	-	8	931	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	283						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGGGCTGGAGAACTCCCA	0.652																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(847-849)tCc>tTc		coiled-coil domain containing 108							23.0	27.0	26.0					2																	219895995		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219895995G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.848C>T	2.37:g.219895995G>A	ENSP00000340776:p.Ser283Phe					CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F	p.S283F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	931	-		Renal(207;0.0915)	283					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.848C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114295	0.77210	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.08193	3.42;3.42;3.42;3.12;3.13	5.37	5.37	0.77165	PapD-like (1);	0.549063	0.15274	N	0.271064	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.56700	0.804;0.804	T	0.07347	-1.0777	10	0.59425	D	0.04	-8.4299	17.2845	0.87137	0.0:0.0:1.0:0.0	.	272;283	E9PG25;Q6ZU64	.;CC108_HUMAN	F	283;283;283;272;218;217	ENSP00000340776:S283F;ENSP00000413377:S283F;ENSP00000409117:S283F;ENSP00000386945:S272F;ENSP00000386258:S218F	ENSP00000340776:S283F	S	-	2	0	CCDC108	219604239	0.992000	0.36948	0.258000	0.24420	0.758000	0.43043	7.155000	0.77445	2.517000	0.84864	0.650000	0.86243	TCC		0.652	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	36	0	0	0	1	0	4	36				
SLC30A5	64924	broad.mit.edu	37	5	68412039	68412039	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:68412039T>C	ENST00000396591.3	+	9	1680	c.1070T>C	c.(1069-1071)tTg>tCg	p.L357S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	357					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTCATTTTGTGTAAGCAT	0.393																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1069-1071)tTg>tCg		solute carrier family 30 (zinc transporter), member 5							88.0	92.0	91.0					5																	68412039		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412039T>C	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1070T>C	5.37:g.68412039T>C	ENSP00000379836:p.Leu357Ser					CTC-498J12.3_ENST00000504129.1_RNA	p.L357S	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	9	1680	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	357					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1070T>C	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154837	0.78114	.	.	ENSG00000145740	ENST00000396591	T	0.69561	-0.41	5.38	5.38	0.77491	.	0.052623	0.85682	D	0.000000	T	0.75295	0.3830	L	0.61218	1.895	0.80722	D	1	P;D;P	0.63880	0.651;0.993;0.93	B;P;B	0.55391	0.273;0.775;0.383	T	0.78585	-0.2147	10	0.72032	D	0.01	.	15.329	0.74190	0.0:0.0:0.0:1.0	.	186;186;357	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	S	357	ENSP00000379836:L357S	ENSP00000379836:L357S	L	+	2	0	SLC30A5	68447795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.164000	0.68074	0.477000	0.44152	TTG		0.393	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			20	60	0	0	0	1	0	20	60				
ESPN	83715	broad.mit.edu	37	1	6504600	6504600	+	Silent	SNP	G	G	A	rs559886623		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:6504600G>A	ENST00000377828.1	+	6	1218	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	350					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTAAGCAGCCGGATTCAGGCA	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		21715	0.0		0.0	False		,,,				2504	0.001					ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1048-1050)ccG>ccA		espin							108.0	81.0	90.0					1																	6504600		2203	4300	6503	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6504600G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1050G>A	1.37:g.6504600G>A						RP1-202O8.2_ENST00000419034.1_RNA	p.P350P	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	6	1218	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	350					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.1050G>A	CCDS70.1																																																																																				0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		21	79	0	0	0	1	0	21	79				
WIPI1	55062	broad.mit.edu	37	17	66449057	66449057	+	Missense_Mutation	SNP	C	C	T	rs200734974		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:66449057C>T	ENST00000262139.5	-	2	156	c.157G>A	c.(157-159)Gga>Aga	p.G53R	WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	53					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTACTGCTTCCGTGGACTTGA	0.498																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(157-159)Gga>Aga		WD repeat domain, phosphoinositide interacting 1		C	ARG/GLY	0,4406		0,0,2203	102.0	90.0	94.0		157	6.1	1.0	17		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	WIPI1	NM_017983.5	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	53/447	66449057	1,13005	2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66449057C>T		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.157G>A	17.37:g.66449057C>T	ENSP00000262139:p.Gly53Arg					WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	p.G53R	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			2	156	-			53					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.157G>A	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470443	0.43942	0.0	1.16E-4	ENSG00000070540	ENST00000262139	T	0.51325	0.71	6.11	6.11	0.99139	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055091	0.64402	D	0.000001	T	0.31389	0.0795	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09143	-1.0688	10	0.23891	T	0.37	-10.0509	18.9147	0.92501	0.0:1.0:0.0:0.0	.	53	Q5MNZ9	WIPI1_HUMAN	R	53	ENSP00000262139:G53R	ENSP00000262139:G53R	G	-	1	0	WIPI1	63960652	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.789000	0.75110	2.906000	0.99361	0.655000	0.94253	GGA		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		6	149	0	0	0	1	0	6	149				
CDH23	64072	broad.mit.edu	37	10	73565576	73565576	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:73565576G>A	ENST00000224721.6	+	55	7906	c.7901G>A	c.(7900-7902)cGc>cAc	p.R2634H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2629	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCCCGCTGCGCTCCAACGTG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7900-7902)cGc>cAc		cadherin-related 23							28.0	30.0	30.0					10																	73565576		2091	4205	6296	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73565576G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7901G>A	10.37:g.73565576G>A	ENSP00000224721:p.Arg2634His					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	p.R2634H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			55	7906	+			2629			Cadherin 25.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7901G>A		.	.	.	.	.	.	.	.	.	.	G	12.93	2.085681	0.36758	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60920	0.15	5.94	3.06	0.35304	Cadherin (3);Cadherin-like (1);	0.278858	0.36303	N	0.002662	T	0.34600	0.0903	N	0.13098	0.295	0.27829	N	0.941539	B;B	0.12630	0.001;0.006	B;B	0.08055	0.003;0.003	T	0.15521	-1.0434	10	0.29301	T	0.29	.	6.8067	0.23782	0.2012:0.1268:0.672:0.0	.	2629;2629	E9PEX1;Q9H251	.;CAD23_HUMAN	H	2634;2629;2632;389	ENSP00000381768:R389H	ENSP00000224721:R2634H	R	+	2	0	CDH23	73235582	0.457000	0.25752	0.997000	0.53966	0.494000	0.33585	0.899000	0.28417	0.393000	0.25203	-0.252000	0.11476	CGC		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		10	30	0	0	0	1	0	10	30				
PTPN1	5770	broad.mit.edu	37	20	49197836	49197836	+	Missense_Mutation	SNP	G	G	T	rs138343840	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:49197836G>T	ENST00000371621.3	+	9	1297	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	AAGTCGGGTCGTGGGGGGAAG	0.557																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(1123-1125)Gtg>Ttg		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						69.0	61.0	63.0					20																	49197836		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49197836G>T		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1123G>T	20.37:g.49197836G>T	ENSP00000360683:p.Val375Leu					PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	p.V375L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			9	1297	+		Lung NSC(126;0.163)	375					Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.1123G>T	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625775	0.46840	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04970	4.11;3.52	6.17	-2.35	0.06684	.	0.629545	0.15071	N	0.282206	T	0.03520	0.0101	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.43861	-0.9365	10	0.20046	T	0.44	.	7.1033	0.25351	0.2417:0.3014:0.4568:0.0	.	375	P18031	PTN1_HUMAN	L	375;302	ENSP00000360683:V375L;ENSP00000437732:V302L	ENSP00000360683:V375L	V	+	1	0	PTPN1	48631243	0.000000	0.05858	0.000000	0.03702	0.644000	0.38419	-0.039000	0.12124	-0.636000	0.05524	-0.175000	0.13238	GTG		0.557	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			22	50	1	0	3.6726e-16	1	3.81569e-16	22	50				
SCYL3	57147	broad.mit.edu	37	1	169828224	169828224	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:169828224T>G	ENST00000367770.1	-	10	1317	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	SCYL3_ENST00000367772.4_Missense_Mutation_p.T424P|SCYL3_ENST00000470238.1_5'Flank|SCYL3_ENST00000367771.6_Missense_Mutation_p.T424P|RN7SL333P_ENST00000476398.2_RNA			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	424					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGGCAGTGCGTTTGAAG	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1270-1272)Act>Cct		SCY1-like 3 (S. cerevisiae)							145.0	141.0	142.0					1																	169828224		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169828224T>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1270A>C	1.37:g.169828224T>G	ENSP00000356744:p.Thr424Pro					SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367771.5_Missense_Mutation_p.T424P	p.T424P	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			11	1467	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		424					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.1270A>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862327	0.71949	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	5.77	0.91146	.	0.045874	0.85682	D	0.000000	T	0.36744	0.0978	M	0.71581	2.175	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.987;0.996	D;D;D	0.80764	0.994;0.917;0.927	T	0.20009	-1.0288	10	0.36615	T	0.2	-21.1924	10.7842	0.46395	0.1768:0.0:0.0:0.8232	.	70;424;424	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	P	424	ENSP00000356746:T424P;ENSP00000356745:T424P;ENSP00000356744:T424P;ENSP00000407993:T424P	ENSP00000356744:T424P	T	-	1	0	SCYL3	168094848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.197000	0.70478	0.455000	0.32223	ACT		0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		86	156	0	0	0	1	0	86	156				
PER1	5187	broad.mit.edu	37	17	8047182	8047182	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:8047182C>A	ENST00000317276.4	-	19	2711	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	825					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTGCGGGGCCGTGGTGGCA	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2473-2475)gGc>gTc	Other conserved DNA damage response genes	period circadian clock 1							35.0	44.0	41.0					17																	8047182		2203	4299	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047182C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2474G>T	17.37:g.8047182C>A	ENSP00000314420:p.Gly825Val					PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	p.G825V	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			19	2711	-			825					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2474G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289911	0.40494	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.24	5.24	0.73138	.	0.220524	0.38837	N	0.001553	T	0.13286	0.0322	L	0.43152	1.355	0.80722	D	1	B	0.32968	0.392	B	0.32624	0.149	T	0.04041	-1.0982	10	0.40728	T	0.16	-10.4552	12.0932	0.53739	0.0:0.8264:0.1736:0.0	.	825	O15534	PER1_HUMAN	V	825	ENSP00000314420:G825V	ENSP00000314420:G825V	G	-	2	0	PER1	7987907	0.984000	0.35163	0.878000	0.34440	0.365000	0.29674	2.339000	0.43965	2.450000	0.82876	0.563000	0.77884	GGC		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			30	95	1	0	1.57351e-24	1	1.67842e-24	30	95				
KERA	11081	broad.mit.edu	37	12	91449700	91449700	+	Missense_Mutation	SNP	A	A	G	rs145871038		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:91449700A>G	ENST00000266719.3	-	2	606	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	120					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAACTTCTTCAGCTGGCTTAG	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(358-360)cTg>cCg		keratocan		A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	131.0	125.0	127.0		359	6.1	1.0	12	dbSNP_134	127	0,8598		0,0,4299	no	missense	KERA	NM_007035.3	98	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	120/353	91449700	1,13003	2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449700A>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.359T>C	12.37:g.91449700A>G	ENSP00000266719:p.Leu120Pro						p.L120P	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	606	-			120						Missense_Mutation	SNP	ENST00000266719.3	37	c.359T>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932153	0.73442	2.27E-4	0.0	ENSG00000139330	ENST00000266719	T	0.72167	-0.63	6.08	6.08	0.98989	.	0.050781	0.85682	D	0.000000	D	0.89143	0.6631	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92148	0.5726	10	0.87932	D	0	-11.6843	16.6438	0.85155	1.0:0.0:0.0:0.0	.	120	O60938	KERA_HUMAN	P	120	ENSP00000266719:L120P	ENSP00000266719:L120P	L	-	2	0	KERA	89973831	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	CTG		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		69	266	0	0	0	1	0	69	266				
SIAH1	6477	broad.mit.edu	37	16	48395776	48395776	+	Missense_Mutation	SNP	G	G	C	rs183087746	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:48395776G>C	ENST00000380006.2	-	1	2017	c.564C>G	c.(562-564)caC>caG	p.H188Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	188	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAACATGAAGTGAAAGCCAA	0.423																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(562-564)caC>caG		siah E3 ubiquitin protein ligase 1							144.0	129.0	134.0					16																	48395776		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395776G>C	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.564C>G	16.37:g.48395776G>C	ENSP00000369343:p.His188Gln					SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q|SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q	p.H188Q			Q8IUQ4	SIAH1_HUMAN			1	2017	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	188			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.564C>G	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447574	0.26074	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.32515	1.45;1.45	5.2	3.23	0.37069	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.27419	0.0673	M	0.64404	1.975	0.80722	D	1	B;B	0.33120	0.2;0.398	B;B	0.29862	0.105;0.108	T	0.04811	-1.0925	10	0.46703	T	0.11	-5.3769	7.9602	0.30066	0.3464:0.0:0.6536:0.0	.	188;219	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	Q	219;188;204	ENSP00000349156:H219Q;ENSP00000378214:H188Q	ENSP00000349156:H219Q	H	-	3	2	SIAH1	46953277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.211000	0.42825	0.683000	0.31428	0.655000	0.94253	CAC		0.423	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			19	198	0	0	0	1	0	19	198				
SLCO1A2	6579	broad.mit.edu	37	12	21453315	21453315	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:21453315C>G	ENST00000307378.6	-	9	1597	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCTTGACCTCTTCTTTTTGT	0.299																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(877-879)Gag>Cag		solute carrier organic anion transporter family, member 1A2							94.0	96.0	96.0					12																	21453315		2202	4300	6502	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453315C>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.877G>C	12.37:g.21453315C>G	ENSP00000305974:p.Glu293Gln					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q	p.E293Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			9	1597	-			293					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.877G>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	5.010	0.187543	0.09547	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.42	0.377	0.16198	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.474300	0.01153	N	0.006475	T	0.30759	0.0775	L	0.31526	0.94	0.09310	N	1	B;B;B	0.17038	0.02;0.016;0.001	B;B;B	0.21151	0.033;0.031;0.016	T	0.08722	-1.0708	10	0.18710	T	0.47	.	5.1128	0.14819	0.0:0.4899:0.1388:0.3713	.	273;291;293	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	Q	293;293;161;161;291	ENSP00000305974:E293Q;ENSP00000393973:E293Q;ENSP00000394854:E161Q;ENSP00000439401:E161Q;ENSP00000375088:E291Q	ENSP00000305974:E293Q	E	-	1	0	SLCO1A2	21344582	0.026000	0.19158	0.000000	0.03702	0.091000	0.18340	0.724000	0.25954	0.057000	0.16193	0.462000	0.41574	GAG		0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		4	60	0	0	0	1	0	4	60				
NME8	51314	broad.mit.edu	37	7	37907473	37907473	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:37907473C>G	ENST00000199447.4	+	11	1163	c.791C>G	c.(790-792)cCt>cGt	p.P264R	NME8_ENST00000440017.1_Missense_Mutation_p.P264R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	264					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CAGGTTACACCTGGAATGATG	0.458																																						ENST00000199447.4																			0											c.(790-792)cCt>cGt		NME/NM23 family member 8							86.0	71.0	76.0					7																	37907473		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37907473C>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.791C>G	7.37:g.37907473C>G	ENSP00000199447:p.Pro264Arg					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P264R	p.P264R	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			11	1163	+			264					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.791C>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872142	0.17322	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.35236	1.32;1.32	4.11	0.286	0.15710	.	1.839300	0.02663	N	0.107693	T	0.26159	0.0638	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15723	-1.0427	10	0.42905	T	0.14	1.8675	2.9415	0.05831	0.1964:0.4849:0.0:0.3187	.	264	Q8N427	TXND3_HUMAN	R	264	ENSP00000199447:P264R;ENSP00000397063:P264R	ENSP00000199447:P264R	P	+	2	0	TXNDC3	37873998	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.045000	0.14013	0.039000	0.15632	0.563000	0.77884	CCT		0.458	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		20	71	0	0	0	1	0	20	71				
CHD9	80205	broad.mit.edu	37	16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:53279712A>G	ENST00000398510.3	+	14	3491	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000566029.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACTTGGTCAATACCATGATG	0.313																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3403-3405)aAt>aGt		chromodomain helicase DNA binding protein 9							55.0	54.0	54.0					16																	53279712		1829	4083	5912	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279712A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3404A>G	16.37:g.53279712A>G	ENSP00000381522:p.Asn1135Ser					CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S	p.N1135S			Q3L8U1	CHD9_HUMAN			15	3613	+		all_cancers(37;0.0212)	1135					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3404A>G		.	.	.	.	.	.	.	.	.	.	A	25.5	4.648319	0.87958	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.75589	-0.95;-0.95	5.95	5.95	0.96441	SNF2-related (1);	0.000000	0.64402	D	0.000010	D	0.84347	0.5452	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.85130	0.997;0.997;0.996;0.994	D	0.85733	0.1332	10	0.87932	D	0	-22.9634	16.4237	0.83790	1.0:0.0:0.0:0.0	.	661;1135;1135;1135	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1135;1135;661	ENSP00000396345:N1135S;ENSP00000381522:N1135S	ENSP00000219084:N661S	N	+	2	0	CHD9	51837213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.279000	0.76181	0.533000	0.62120	AAT		0.313	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		17	91	0	0	0	1	0	17	91				
IGHV1-46	28465	broad.mit.edu	37	14	106967443	106967443	+	RNA	SNP	A	A	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:106967443A>C	ENST00000390622.2	-	0	345									immunoglobulin heavy variable 1-46																		CTTTACCTGGAGCTACAGCCA	0.522																																						ENST00000390622.2																			0																				92.0	93.0	93.0					14																	106967443		1889	4114	6003			0							g.chr14:106967443A>C	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967443A>C														0	345	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.522	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		9	131	0	0	0	1	0	9	131				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	78	0	0	0	1	0	4	78				
RHBDF1	64285	broad.mit.edu	37	16	113631	113631	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:113631G>A	ENST00000262316.6	-	4	558	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	139					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGGGGTGGCGTCTCGGTGCT	0.667																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(415-417)aCg>aTg		rhomboid 5 homolog 1 (Drosophila)							82.0	74.0	77.0					16																	113631		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113631G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.416C>T	16.37:g.113631G>A	ENSP00000262316:p.Thr139Met					RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			4	558	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	139					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.416C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	32	5.186478	0.94885	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545	T;T;T	0.69040	-0.37;-0.37;-0.37	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.973	T	0.81961	-0.0693	10	0.72032	D	0.01	-22.6101	18.4277	0.90614	0.0:0.0:1.0:0.0	.	139;162;139	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	M	139;139;175;139;175	ENSP00000262316:T139M;ENSP00000392133:T139M;ENSP00000408915:T139M	ENSP00000262316:T139M	T	-	2	0	RHBDF1	53631	1.000000	0.71417	0.969000	0.41365	0.876000	0.50452	9.787000	0.99055	2.600000	0.87896	0.563000	0.77884	ACG		0.667	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		33	92	0	0	0	1	0	33	92				
TDRD9	122402	broad.mit.edu	37	14	104492043	104492043	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:104492043C>T	ENST00000409874.4	+	26	2909	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	954	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTGGCACCTTTTGCTGAT	0.438																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2860-2862)cCt>cTt		tudor domain containing 9							193.0	208.0	203.0					14																	104492043		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104492043C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2861C>T	14.37:g.104492043C>T	ENSP00000387303:p.Pro954Leu					TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			26	2909	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	954			Tudor.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2861C>T	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027991	0.75390	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.06933	3.24;3.24	4.99	4.99	0.66335	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000015	T	0.21962	0.0529	L	0.46157	1.445	0.80722	D	1	P;D	0.54207	0.907;0.965	P;P	0.61940	0.514;0.896	T	0.00374	-1.1780	10	0.48119	T	0.1	.	18.2969	0.90150	0.0:1.0:0.0:0.0	.	954;954	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	L	954	ENSP00000387303:P954L;ENSP00000343545:P954L	ENSP00000343545:P954L	P	+	2	0	TDRD9	103561796	1.000000	0.71417	0.983000	0.44433	0.910000	0.53928	5.099000	0.64554	2.310000	0.77875	0.557000	0.71058	CCT		0.438	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		33	447	0	0	0	1	0	33	447				
MKI67	4288	broad.mit.edu	37	10	129902953	129902953	+	Missense_Mutation	SNP	C	C	T	rs577377467		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:129902953C>T	ENST00000368654.3	-	13	7526	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2384	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CATGGCTTTGCCTGCTGATGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		21289	0.0		0.0	False		,,,				2504	0.001					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7150-7152)gGc>gAc		marker of proliferation Ki-67							324.0	320.0	321.0					10																	129902953		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902953C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7151G>A	10.37:g.129902953C>T	ENSP00000357643:p.Gly2384Asp					MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	p.G2384D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7526	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2384			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7151G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	2.986	-0.209345	0.06140	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04194	3.68;3.68	2.77	-2.48	0.06423	.	1.085990	0.07217	N	0.860159	T	0.09379	0.0231	L	0.52126	1.63	0.09310	N	1	B;D;D	0.89917	0.184;1.0;0.997	B;D;D	0.79108	0.057;0.992;0.939	T	0.33420	-0.9869	10	0.11794	T	0.64	.	0.3287	0.00315	0.2531:0.1646:0.1957:0.3865	.	2383;2024;2384	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	2384;2024;2383	ENSP00000357643:G2384D;ENSP00000357642:G2024D	ENSP00000357642:G2024D	G	-	2	0	MKI67	129792943	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.987000	0.00659	-0.610000	0.05716	0.462000	0.41574	GGC		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		47	690	0	0	0	1	0	47	690				
C1RL	51279	broad.mit.edu	37	12	7261741	7261741	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:7261741C>G	ENST00000266542.4	-	1	128	c.36G>C	c.(34-36)tgG>tgC	p.W12C	C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	12					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGGCTTCTCCAGAGATATT	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(34-36)tgG>tgC		complement component 1, r subcomponent-like							46.0	37.0	40.0					12																	7261741		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7261741C>G	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.36G>C	12.37:g.7261741C>G	ENSP00000266542:p.Trp12Cys		OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C	p.W12C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			1	128	-			12					Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.36G>C	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	7.686	0.689956	0.15039	.	.	ENSG00000139178	ENST00000545280;ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	D;T;T;T	0.87412	-2.25;1.41;1.85;1.56	3.67	3.67	0.42095	.	0.170301	0.28784	N	0.014154	D	0.87985	0.6316	L	0.29908	0.895	0.49687	D	0.99981	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.988;0.951;0.894	D	0.87188	0.2232	10	0.48119	T	0.1	.	11.2576	0.49063	0.0:1.0:0.0:0.0	.	12;12;12	F5GWF3;F5H7C8;Q9NZP8	.;.;C1RL_HUMAN	C	12	ENSP00000266542:W12C;ENSP00000441885:W12C;ENSP00000437398:W12C;ENSP00000442611:W12C	ENSP00000266542:W12C	W	-	3	0	C1RL	7153017	0.428000	0.25522	0.941000	0.38009	0.052000	0.14988	0.876000	0.28092	2.358000	0.79984	0.386000	0.25728	TGG		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		8	17	0	0	0	1	0	8	17				
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318.0	269.0	285.0					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594688.1_RNA	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		6	635	0	0	0	1	0	6	635				
WIBG	84305	broad.mit.edu	37	12	56297190	56297190	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:56297190G>A	ENST00000408946.2	-	2	263	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCCTCCTGGGGCACATATCCT	0.493																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(112-114)Ccc>Tcc		within bgcn homolog (Drosophila)							96.0	98.0	97.0					12																	56297190		1952	4146	6098	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56297190G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.112C>T	12.37:g.56297190G>A	ENSP00000386156:p.Pro38Ser					WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S|WIBG_ENST00000547925.1_3'UTR	p.P38S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			2	263	-			38					B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.112C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198232	0.94997	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.61859	0.07;0.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.82635	-0.0360	10	0.59425	D	0.04	.	17.9932	0.89175	0.0:0.0:1.0:0.0	.	38;37	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	S	38;37	ENSP00000386156:P38S;ENSP00000381271:P37S	ENSP00000381271:P37S	P	-	1	0	WIBG	54583457	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.118000	0.94355	2.633000	0.89246	0.650000	0.86243	CCC		0.493	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		12	151	0	0	0	1	0	12	151				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	80	0	0	0	1	0	6	80				
HPS4	89781	broad.mit.edu	37	22	26860001	26860001	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:26860001G>A	ENST00000398145.2	-	11	2211	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V|HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	532					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAGGACTCTGCTGGTGTCAG	0.607									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1594-1596)gCa>gTa		Hermansky-Pudlak syndrome 4							75.0	72.0	73.0					22																	26860001		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860001G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1595C>T	22.37:g.26860001G>A	ENSP00000381213:p.Ala532Val					HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V	p.A532V	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2211	-			532					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1595C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703521	0.30232	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.34275	1.38;1.37;1.38;1.38	4.5	-0.231	0.13086	.	0.874539	0.09944	N	0.735594	T	0.29749	0.0743	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B	0.20052	0.041;0.019;0.019;0.041;0.041;0.019	B;B;B;B;B;B	0.16722	0.016;0.011;0.011;0.016;0.016;0.011	T	0.28964	-1.0027	9	.	.	.	-0.9171	5.3983	0.16281	0.2646:0.1465:0.5889:0.0	.	532;532;532;532;545;527	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	V	532;545;527;532	ENSP00000381213:A532V;ENSP00000381210:A545V;ENSP00000384185:A527V;ENSP00000338457:A532V	.	A	-	2	0	HPS4	25190001	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.062000	0.11674	0.181000	0.19994	0.655000	0.94253	GCA		0.607	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		44	107	0	0	0	1	0	44	107				
ABCG4	64137	broad.mit.edu	37	11	119031673	119031673	+	Missense_Mutation	SNP	C	C	T	rs200842214		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:119031673C>T	ENST00000449422.2	+	15	1986	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	ABCG4_ENST00000307417.3_Missense_Mutation_p.R600W|ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCCGTTCCGGGAGCCACA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21097	0.001		0.0	False		,,,				2504	0.0					ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1798-1800)Cgg>Tgg		ATP-binding cassette, sub-family G (WHITE), member 4							100.0	88.0	92.0					11																	119031673		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031673C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1798C>T	11.37:g.119031673C>T	ENSP00000406874:p.Arg600Trp					ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W	p.R600W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2162	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	600			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1798C>T	CCDS8415.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.145320	0.77888	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.57595	0.39;0.39;0.39	5.55	5.55	0.83447	.	0.166280	0.53938	D	0.000042	T	0.53965	0.1829	M	0.78637	2.42	0.44555	D	0.997515	P	0.52170	0.951	B	0.38712	0.28	T	0.65417	-0.6173	10	0.87932	D	0	-3.2974	15.1559	0.72743	0.1417:0.8583:0.0:0.0	.	600	Q9H172	ABCG4_HUMAN	W	600	ENSP00000304111:R600W;ENSP00000406874:R600W;ENSP00000434318:R600W	ENSP00000304111:R600W	R	+	1	2	ABCG4	118536883	1.000000	0.71417	0.942000	0.38095	0.714000	0.41099	3.945000	0.56637	2.621000	0.88768	0.655000	0.94253	CGG		0.572	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		6	63	0	0	0	1	0	6	63				
KLRAP1	10748	broad.mit.edu	37	12	10748356	10748356	+	RNA	SNP	G	G	A	rs12321831	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:10748356G>A	ENST00000510134.2	-	0	315									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						TGTATAAGGCGTGAATCCAGT	0.313																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3										G		2,4404	4.2+/-10.8	0,2,2201	112.0	106.0	108.0			-6.1	0.0	12	dbSNP_120	108	6,8586	4.3+/-15.6	0,6,4290	no	intergenic				0,8,6491	AA,AG,GG		0.0698,0.0454,0.0615			10748356	8,12990	2203	4296	6499			0							g.chr12:10748356G>A	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10748356G>A														0	315	-									RNA	SNP	ENST00000510134.2	37																																																																																						0.313	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		4	156	0	0	0	1	0	4	156				
ATRX	546	broad.mit.edu	37	X	76920268	76920268	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:76920268C>T	ENST00000373344.5	-	11	4024		c.e11-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTGGCAATTCTTGAGAGTAA	0.303			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e11-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						64.0	57.0	59.0					X																	76920268		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920268C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3810-1G>A	X.37:g.76920268C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4024	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748573	0.69533	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2937	0.87164	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76806924	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	6.697000	0.74603	2.095000	0.63458	0.600000	0.82982	.		0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	32	34	0	0	0	1	0	32	34				
PSMB1	5689	broad.mit.edu	37	6	170852781	170852781	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr6:170852781C>T	ENST00000262193.6	-	4	439	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AGCAATTGCCCCCGTAGTCAT	0.403																																						ENST00000262193.6																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(340-342)gGg>gAg		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)						146.0	127.0	134.0					6																	170852781		2203	4300	6503	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170852781C>T	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.341G>A	6.37:g.170852781C>T	ENSP00000262193:p.Gly114Glu					PSMB1_ENST00000462957.1_5'UTR	p.G114E	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	4	439	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	114					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.341G>A	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080475	0.36662	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.18960	2.18	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	N	0.11131	0.1	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.16630	-1.0396	10	0.13108	T	0.6	-20.7073	18.8678	0.92300	0.0:1.0:0.0:0.0	.	114	P20618	PSB1_HUMAN	E	114;119	ENSP00000262193:G114E	ENSP00000262193:G114E	G	-	2	0	PSMB1	170694706	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	7.002000	0.76304	2.532000	0.85374	0.650000	0.86243	GGG		0.403	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		48	178	0	0	0	1	0	48	178				
ZNF143	7702	broad.mit.edu	37	11	9534059	9534059	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:9534059C>T	ENST00000396602.2	+	13	1559	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000530463.1_Silent_p.D479D|ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000396604.1_Silent_p.D479D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	480					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D480D(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAGGGGACGACGTTGTTTCTA	0.418																																						ENST00000396602.2																			1	Substitution - coding silent(1)	p.D480D(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1438-1440)gaC>gaT		zinc finger protein 143							170.0	147.0	155.0					11																	9534059		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9534059C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1440C>T	11.37:g.9534059C>T						ZNF143_ENST00000396604.1_Silent_p.D479D|ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000530463.1_Silent_p.D479D	p.D480D	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	13	1559	+			480					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.1440C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320271	0.10845	.	.	ENSG00000166478	ENST00000447186	.	.	.	5.49	-0.831	0.10789	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52449	-0.8574	4	.	.	.	.	10.9429	0.47283	0.0:0.4422:0.0:0.5578	.	.	.	.	C	6	.	.	R	+	1	0	ZNF143	9490635	0.984000	0.35163	0.983000	0.44433	0.636000	0.38137	0.024000	0.13555	-0.318000	0.08665	-0.367000	0.07326	CGT		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		38	244	0	0	0	1	0	38	244				
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													A|||	1	0.000199681	0.0	0.0014	5008	,	,		26099	0.0		0.0	False		,,,				2504	0.0					ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2581-2583)Atg>Gtg		SON DNA binding protein		A	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173.0	169.0	170.0		2581,2581	5.7	1.0	21	dbSNP_134	170	0,8600		0,0,4300	yes	missense,missense	SON	NM_032195.1,NM_138927.1	21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	861/2304,861/2427	34924118	1,13005	2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924118A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2581A>G	21.37:g.34924118A>G	ENSP00000348984:p.Met861Val					SON_ENST00000381679.4_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M861V	p.M861V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3056	+			861			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2581A>G	CCDS13629.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	13.29	2.193512	0.38707	2.27E-4	0.0	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	D	0.86418	0.5928	M	0.63843	1.955	0.29292	N	0.869312	P;P;B	0.50369	0.891;0.934;0.02	P;D;B	0.65684	0.867;0.937;0.041	T	0.80930	-0.1162	10	0.21014	T	0.42	.	13.9442	0.64075	1.0:0.0:0.0:0.0	.	861;861;861	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	861	ENSP00000348984:M861V;ENSP00000290239:M861V;ENSP00000300278:M861V;ENSP00000371095:M861V	ENSP00000290239:M861V	M	+	1	0	SON	33845988	0.861000	0.29849	1.000000	0.80357	0.955000	0.61496	1.578000	0.36525	2.168000	0.68352	0.524000	0.50904	ATG		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		13	455	0	0	0	1	0	13	455				
MUC6	4588	broad.mit.edu	37	11	1023958	1023958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:1023958G>A	ENST00000421673.2	-	25	3421	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1124					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGGCCGGGGTCCTCCA	0.687																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3370-3372)cCg>cTg		mucin 6, oligomeric mucus/gel-forming							27.0	38.0	34.0					11																	1023958		2178	4271	6449	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1023958G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3371C>T	11.37:g.1023958G>A	ENSP00000406861:p.Pro1124Leu						p.P1124L	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3421	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1124					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3371C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754076	0.49362	.	.	ENSG00000184956	ENST00000421673	T	0.77229	-1.08	4.37	4.37	0.52481	Uncharacterised domain, cysteine-rich (2);	0.272151	0.18640	U	0.135335	D	0.90590	0.7050	M	0.91249	3.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.92882	0.6324	10	0.87932	D	0	.	17.2742	0.87110	0.0:0.0:1.0:0.0	.	1124	Q6W4X9	MUC6_HUMAN	L	1124	ENSP00000406861:P1124L	ENSP00000406861:P1124L	P	-	2	0	MUC6	1013958	1.000000	0.71417	0.912000	0.35992	0.084000	0.17831	9.569000	0.98170	2.143000	0.66587	0.542000	0.68232	CCG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		3	51	0	0	0	1	0	3	51				
KIAA0754	643314	broad.mit.edu	37	1	39878107	39878107	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:39878107C>T	ENST00000530275.1	+	1	1957	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	588										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAAAAGAGCTGGATTATCA	0.448																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1762-1764)Ctg>Ttg		KIAA0754							98.0	96.0	97.0					1																	39878107		1928	4140	6068	SO:0001819	synonymous_variant	643314							g.chr1:39878107C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1762C>T	1.37:g.39878107C>T						MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	p.L588L	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1957	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	588					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.1762C>T																																																																																					0.448	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		20	68	0	0	0	1	0	20	68				
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCCATGCAGCGTGAGTCTCGG	0.597																																						ENST00000263431.3																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.e12+1		protein kinase C, gamma							67.0	65.0	66.0					19																	54403579		2203	4300	6503	SO:0001630	splice_region_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403579G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1373+1G>A	19.37:g.54403579G>A						PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site		NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	12	1655	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)							B7Z8Q0	Splice_Site	SNP	ENST00000263431.3	37		CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839540	0.71488	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2313	0.59945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCG	59095391	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.029000	0.93718	2.228000	0.72767	0.561000	0.74099	.		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	Intron	21	64	0	0	0	1	0	21	64				
INTS10	55174	broad.mit.edu	37	8	19694646	19694646	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGAACCCTCGAAAGTAAAGC	0.403																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1612-1614)tcG>tcA		integrator complex subunit 10							111.0	107.0	108.0					8																	19694646		1854	4098	5952	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19694646G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1614G>A	8.37:g.19694646G>A							p.S538S	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	13	2012	+			538					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1614G>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.593|3.593	-0.083242|-0.083242	0.07141|0.07141	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000518799|ENST00000520670	.|.	.|.	.|.	5.27|5.27	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.48732|0.48732	0.1516|0.1516	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61038|0.61038	-0.7143|-0.7143	4|4	.|.	.|.	.|.	-1.3785|-1.3785	10.9598|10.9598	0.47379|0.47379	0.1275:0.6679:0.0687:0.1359|0.1275:0.6679:0.0687:0.1359	.|.	.|.	.|.	.|.	K|Q	121|28	.|.	.|.	E|R	+|+	1|2	0|0	INTS10|INTS10	19738926|19738926	0.023000|0.023000	0.18921|0.18921	0.513000|0.513000	0.27749|0.27749	0.299000|0.299000	0.27559|0.27559	-0.504000|-0.504000	0.06375|0.06375	-1.106000|-1.106000	0.03008|0.03008	-1.235000|-1.235000	0.01560|0.01560	GAA|CGA		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		4	108	0	0	0	1	0	4	108				
COL15A1	1306	broad.mit.edu	37	9	101765779	101765779	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:101765779C>T	ENST00000375001.3	+	8	1533	c.1110C>T	c.(1108-1110)agC>agT	p.S370S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	370	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCCCATCAGCACTGCTGGAG	0.577																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1108-1110)agC>agT		collagen, type XV, alpha 1							75.0	80.0	78.0					9																	101765779		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765779C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1110C>T	9.37:g.101765779C>T							p.S370S	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			8	1533	+		Acute lymphoblastic leukemia(62;0.0562)	370			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1110C>T	CCDS35081.1																																																																																				0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		23	175	0	0	0	1	0	23	175				
CLCN4	1183	broad.mit.edu	37	X	10176378	10176378	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:10176378C>T	ENST00000380833.4	+	9	1528	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CLCN4_ENST00000380829.1_Silent_p.I348I|CLCN4_ENST00000421085.2_Silent_p.I285I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	379					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACTGCCATCACTGCCATCA	0.582																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1135-1137)atC>atT		chloride channel, voltage-sensitive 4							163.0	151.0	155.0					X																	10176378		2203	4300	6503	SO:0001819	synonymous_variant	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176378C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1137C>T	X.37:g.10176378C>T						CLCN4_ENST00000380829.1_Silent_p.I348I|CLCN4_ENST00000421085.2_Silent_p.I285I	p.I379I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1528	+			379					A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.1137C>T	CCDS14137.1																																																																																				0.582	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			23	247	0	0	0	1	0	23	247				
XPO4	64328	broad.mit.edu	37	13	21361632	21361632	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:21361632C>T	ENST00000255305.6	-	21	3224	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000400602.2_Silent_p.R1051R			Q9C0E2	XPO4_HUMAN	exportin 4	1051					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(3151-3153)cgG>cgA		exportin 4							124.0	123.0	123.0					13																	21361632		1920	4139	6059	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21361632C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3153G>A	13.37:g.21361632C>T						XPO4_ENST00000255305.6_Silent_p.R1051R	p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	21	3188	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1051					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.3153G>A	CCDS41872.1																																																																																				0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		5	159	0	0	0	1	0	5	159				
FOLR1	2348	broad.mit.edu	37	11	71906440	71906440	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:71906440G>A	ENST00000393679.1	+	3	730	c.294G>A	c.(292-294)cgG>cgA	p.R98R	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.R98R|FOLR1_ENST00000312293.4_Silent_p.R98R|FOLR1_ENST00000393676.3_Silent_p.R98R			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	98					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CCTGCAAACGGCATTTCATCC	0.542																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(292-294)cgG>cgA		folate receptor 1 (adult)							171.0	167.0	168.0					11																	71906440		2200	4293	6493	SO:0001819	synonymous_variant	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906440G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.294G>A	11.37:g.71906440G>A						FOLR1_ENST00000393681.2_Silent_p.R98R|FOLR1_ENST00000393676.3_Silent_p.R98R|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.R98R	p.R98R			P15328	FOLR1_HUMAN			3	730	+			98					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	ENST00000393679.1	37	c.294G>A	CCDS8211.1																																																																																				0.542	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		5	492	0	0	0	1	0	5	492				
PEX10	5192	broad.mit.edu	37	1	2343881	2343881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:2343881delA	ENST00000447513.2	-	1	129	c.61delT	c.(61-63)tacfs	p.Y21fs	PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000288774.3_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	21					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCACCGCGGTAGTACTCGTCC	0.801																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(61-63)acfs		peroxisomal biogenesis factor 10							2.0	2.0	2.0					1																	2343881		955	2217	3172	SO:0001589	frameshift_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2343881delA	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.61delT	1.37:g.2343881delA	ENSP00000407922:p.Tyr21fs					PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs	p.Y21fs	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	1	88	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	21					B3KWD8|Q5T095|Q9BW90	Frame_Shift_Del	DEL	ENST00000447513.2	37	c.61delT	CCDS44045.1																																																																																				0.801	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		2	4						2	4	---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96232446	96232446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:96232446delT	ENST00000437043.3	+	9	2093	c.1382delT	c.(1381-1383)attfs	p.I461fs	ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	461					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAGCTTGTATTTTGAATATG	0.303																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1381-1383)atfs		endoplasmic reticulum aminopeptidase 2							48.0	55.0	53.0					5																	96232446		2191	4296	6487	SO:0001589	frameshift_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96232446delT	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1382delT	5.37:g.96232446delT	ENSP00000400376:p.Ile461fs					CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs	p.I461fs	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	9	2093	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	461					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Frame_Shift_Del	DEL	ENST00000437043.3	37	c.1382delT	CCDS4086.1																																																																																				0.303	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		50	191						50	191	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579893	140579894	+	Frame_Shift_Del	DEL	GA	GA	-	rs375833006		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:140579893_140579894delGA	ENST00000354757.3	+	1	546_547	c.546_547delGA	c.(544-549)atgagafs	p.R183fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAAAATGAGAGTCATTCC	0.431																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(544-549)atgafs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579893_140579894delGA	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.546_547delGA	5.37:g.140579895_140579896delGA	ENSP00000346802:p.Arg183fs					PCDHB11_ENST00000536699.1_Intron	p.MR182fs	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	546_547	+			182			Cadherin 2.		B4DSF7|Q2M223	Frame_Shift_Del	DEL	ENST00000354757.3	37	c.546_547delGA	CCDS4253.1																																																																																				0.431	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		66	160						66	160	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			0							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	548						7	548	---	---	---	---
NR2E3	10002	broad.mit.edu	37	15	72104223	72104224	+	RNA	INS	-	-	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:72104223_72104224insG	ENST00000398840.2	+	0	539							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						AGGCGGGGGCTGGCCCGGGGGG	0.693																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3																																						10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72104223_72104224insG		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72104225_72104225dupG										Q9Y5X4	NR2E3_HUMAN			0	539	+								B6ZGU0|Q9UHM4	RNA	INS	ENST00000398840.2	37																																																																																						0.693	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29527570	29527571	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29527570_29527571insT	ENST00000358273.4	+	9	1402_1403	c.1019_1020insT	c.(1018-1023)tctgtcfs	p.V341fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.V341fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.V341fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	341					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTCC	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD972347|CI086448	NF1	D|I		c.(1018-1020)tgtfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527570_29527571insT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1020dupT	17.37:g.29527571_29527571dupT	ENSP00000351015:p.Val341fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Ins_p.C340fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.C340fs	p.C340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1402_1403	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	340					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1019_1020insT	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		66	160						66	160	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740542	58740543	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:58740542_58740543delAC	ENST00000305921.3	+	6	1679_1680	c.1447_1448delAC	c.(1447-1449)actfs	p.T483fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	483					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAAGCCCTGACTTTAAGGATA	0.391											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1447-1449)tfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740542_58740543delAC	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1447_1448delAC	17.37:g.58740542_58740543delAC	ENSP00000306682:p.Thr483fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.T483fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1679_1680	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		483					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1447_1448delAC	CCDS11625.1																																																																																				0.391	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		72	217						72	217	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		9	231						9	231	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:153627860delA	ENST00000369817.2	+	5	691	c.115delA	c.(115-117)aaafs	p.K40fs	SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR			P27635	RL10_HUMAN	ribosomal protein L10	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(115-117)aafs		ribosomal protein L10							134.0	130.0	131.0					X																	153627860		2203	4300	6503	SO:0001589	frameshift_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627860delA	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.115delA	X.37:g.153627860delA	ENSP00000358832:p.Lys40fs		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	303	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		40					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Frame_Shift_Del	DEL	ENST00000369817.2	37	c.115delA	CCDS14746.1																																																																																				0.512	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		7	210						7	210	---	---	---	---
