#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
CHST4	10164	broad.mit.edu	37	16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:71571103G>C	ENST00000338482.5	+	3	866	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	CHST4_ENST00000572450.1_Missense_Mutation_p.V175L|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	175					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGCCACGTGGTGCTCAAGGA	0.617																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(523-525)Gtg>Ctg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							85.0	84.0	85.0					16																	71571103		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571103G>C	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.523G>C	16.37:g.71571103G>C	ENSP00000341206:p.Val175Leu					ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|RP11-510M2.9_ENST00000572693.1_RNA	p.V175L			Q8NCG5	CHST4_HUMAN			3	866	+			175					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.523G>C	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178335	0.94846	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.81908	-1.55;-1.55	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.142979	0.47852	D	0.000206	D	0.92215	0.7531	M	0.87328	2.875	0.50313	D	0.999864	D	0.71674	0.998	D	0.74023	0.982	D	0.92940	0.6371	10	0.72032	D	0.01	-5.1496	17.5569	0.87894	0.0:0.0:1.0:0.0	.	175	Q8NCG5	CHST4_HUMAN	L	175	ENSP00000341206:V175L;ENSP00000441204:V175L	ENSP00000341206:V175L	V	+	1	0	CHST4	70128604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.022000	0.88759	2.735000	0.93741	0.655000	0.94253	GTG		0.617	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		3	68	0	0	0	0.000602214	0	3	68				
ZNF318	24149	broad.mit.edu	37	6	43305058	43305058	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:43305058A>G	ENST00000361428.2	-	10	6755	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6676-6678)gaT>gaC		zinc finger protein 318							98.0	84.0	88.0					6																	43305058		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305058A>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6678T>C	6.37:g.43305058A>G						ZNF318_ENST00000318149.3_Intron	p.D2226D	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6755	-			2226					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.6678T>C	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	37	0	0	0	0.00400662	0	16	37				
STXBP5L	9515	broad.mit.edu	37	3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:120998716A>G	ENST00000273666.6	+	19	2294	c.2023A>G	c.(2023-2025)Agc>Ggc	p.S675G	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2023-2025)Agc>Ggc		syntaxin binding protein 5-like							163.0	154.0	157.0					3																	120998716		1890	4116	6006	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998716A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2023A>G	3.37:g.120998716A>G	ENSP00000273666:p.Ser675Gly					STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2294	+			675					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2023A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063722	0.55432	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.64803	1.87;-0.12;-0.12;1.2;-0.12;-0.12	5.55	5.55	0.83447	.	0.044936	0.85682	D	0.000000	T	0.59224	0.2178	M	0.64404	1.975	0.58432	D	0.999998	P;P	0.39282	0.666;0.666	B;B	0.34418	0.182;0.182	T	0.64037	-0.6501	10	0.51188	T	0.08	-5.6114	15.6967	0.77506	1.0:0.0:0.0:0.0	.	675;675	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	G	675	ENSP00000273666:S675G;ENSP00000420019:S675G;ENSP00000419627:S675G;ENSP00000420287:S675G;ENSP00000420666:S675G;ENSP00000420167:S675G	ENSP00000273666:S675G	S	+	1	0	STXBP5L	122481406	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.819000	0.69243	2.111000	0.64477	0.383000	0.25322	AGC		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			27	46	0	0	0	0.000878237	0	27	46				
CIITA	4261	broad.mit.edu	37	16	11016081	11016081	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:11016081G>A	ENST00000324288.8	+	17	3340	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	CIITA_ENST00000381835.5_Silent_p.P485P	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1069					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGTGCTTCCGGACATGGTGT	0.627			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3205-3207)ccG>ccA		class II, major histocompatibility complex, transactivator							143.0	138.0	140.0					16																	11016081		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11016081G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3207G>A	16.37:g.11016081G>A						CIITA_ENST00000381835.5_Silent_p.P485P	p.P1069P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			17	3340	+			1069					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.3207G>A	CCDS10544.1																																																																																				0.627	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		36	138	0	0	0	0.00111076	0	36	138				
CFHR2	3080	broad.mit.edu	37	1	196876014	196876014	+	Intron	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:196876014G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.E154K|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GCCTGTTTTTGAGAATTCCAG	0.373																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(460-462)Gag>Aag		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196876014G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-42571G>A	1.37:g.196876014G>A						CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	p.E154K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					4	597	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.460G>A		.	.	.	.	.	.	.	.	.	.	.	8.048	0.765433	0.15914	.	.	ENSG00000134365	ENST00000367416	T	0.64085	-0.08	2.96	-0.163	0.13363	.	.	.	.	.	T	0.66538	0.2799	M	0.80422	2.495	0.09310	N	1	P;D	0.53885	0.952;0.963	P;P	0.55749	0.783;0.557	T	0.57487	-0.7803	9	0.10377	T	0.69	.	5.2757	0.15649	0.4411:0.0:0.5589:0.0	.	154;155	C9J7J7;Q5DVJ7	.;.	K	154	ENSP00000356386:E154K	ENSP00000356386:E154K	E	+	1	0	CFHR4	195142637	0.004000	0.15560	0.016000	0.15963	0.239000	0.25481	-0.068000	0.11561	-0.129000	0.11620	0.430000	0.28490	GAG		0.373	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		8	23	0	0	0	0.000442599	0	8	23				
SDAD1P1	157489	broad.mit.edu	37	8	26236921	26236921	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr8:26236921C>T	ENST00000519902.1	-	0	3027									SDA1 domain containing 1 pseudogene 1																		TTCTTTTTCTCTTTTCAAAAG	0.368																																						ENST00000519902.1																			0																																																			157489							g.chr8:26236921C>T			8p21.2	2010-11-24			ENSG00000228451	ENSG00000228451			31403	pseudogene	pseudogene							Standard	NG_006994		Approved				OTTHUMG00000163945		8.37:g.26236921C>T														0	3027	-									RNA	SNP	ENST00000519902.1	37																																																																																						0.368	SDAD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000376512.1	NG_006994		4	8	0	0	0	0.00024832	0	4	8				
RGAG4	340526	broad.mit.edu	37	X	71350448	71350448	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:71350448T>C	ENST00000545866.1	-	1	1310	c.943A>G	c.(943-945)Aag>Gag	p.K315E	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.K315E	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(943-945)Aag>Gag		retrotransposon gag domain containing 4							109.0	103.0	105.0					X																	71350448		1921	4123	6044	SO:0001583	missense	340526							g.chrX:71350448T>C	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.943A>G	X.37:g.71350448T>C	ENSP00000441366:p.Lys315Glu					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E	p.K315E			Q5HYW3	RGAG4_HUMAN			1	1310	-	Renal(35;0.156)		315					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.943A>G	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323814	0.41096	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13307	2.6;2.6	4.13	4.13	0.48395	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.26162	N	0.979989	P	0.46784	0.884	B	0.43301	0.415	T	0.16571	-1.0398	8	.	.	.	-6.3278	8.5271	0.33311	0.0:0.0:0.0:1.0	.	315	Q5HYW3	RGAG4_HUMAN	E	315	ENSP00000441366:K315E;ENSP00000418667:K315E	.	K	-	1	0	RGAG4	71267173	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.935000	0.48963	1.832000	0.53329	0.486000	0.48141	AAG		0.468	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		3	87	0	0	0	6.4e-05	0	3	87				
MAGEA3	4102	broad.mit.edu	37	X	151935540	151935540	+	Silent	SNP	G	G	A	rs186907646		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:151935540G>A	ENST00000393902.3	-	3	1194	c.627C>T	c.(625-627)atC>atT	p.I209I	MAGEA3_ENST00000370278.3_Silent_p.I209I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562													g|||	2	0.000529801	0.0	0.0	3775	,	,		13480	0.002		0.0	False		,,,				2504	0.0					ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(625-627)atC>atT		melanoma antigen family A, 3							142.0	141.0	141.0					X																	151935540		2202	4292	6494	SO:0001819	synonymous_variant	4102							g.chrX:151935540G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.627C>T	X.37:g.151935540G>A						MAGEA3_ENST00000370278.3_Silent_p.I209I	p.I209I			P43357	MAGA3_HUMAN			3	1194	-	Acute lymphoblastic leukemia(192;6.56e-05)		209			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.627C>T	CCDS14715.1																																																																																				0.562	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		13	169	0	0	0	0.00316338	0	13	169				
LTK	4058	broad.mit.edu	37	15	41797503	41797503	+	Splice_Site	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:41797503C>T	ENST00000263800.6	-	15	1924	c.1828G>A	c.(1828-1830)Ggc>Agc	p.G610S	LTK_ENST00000561619.1_Splice_Site_p.G308S|LTK_ENST00000453182.2_Splice_Site_p.G480S|LTK_ENST00000355166.5_Splice_Site_p.G549S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.e15-1		leukocyte receptor tyrosine kinase							42.0	41.0	41.0					15																	41797503		2203	4300	6503	SO:0001630	splice_region_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797503C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1828-1G>A	15.37:g.41797503C>T		TSP Lung(18;0.14)				LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice	p.G610_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	15	1924	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	610			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Splice_Site	SNP	ENST00000263800.6	37	c.1827_splice	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	1.517	-0.547939	0.04024	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.88741	-2.42;-2.42;-1.14	4.19	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.77890	0.4198	N	0.11131	0.1	0.31865	N	0.620483	B;P;B;B	0.34892	0.008;0.474;0.043;0.418	B;B;B;B	0.41440	0.039;0.357;0.055;0.206	T	0.74203	-0.3741	9	0.11485	T	0.65	.	6.2354	0.20760	0.0:0.7954:0.0:0.2046	.	480;480;549;610	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	S	549;610;480	ENSP00000347293:G549S;ENSP00000263800:G610S;ENSP00000392196:G480S	ENSP00000263800:G610S	G	-	1	0	LTK	39584795	0.524000	0.26282	0.982000	0.44146	0.429000	0.31625	0.982000	0.29539	2.164000	0.68074	0.561000	0.74099	GGC		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Missense_Mutation	5	44	0	0	0	0.000602214	0	5	44				
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CGTTTTACTGCATTAATTACA	0.333																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912208C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912208C>T														0	2371	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.333	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		5	62	0	0	0	0.000602214	0	5	62				
LILRB1	10859	broad.mit.edu	37	19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:55144664C>T	ENST00000396331.1	+	8	1513	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	386	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1156-1158)Cct>Tct		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							112.0	122.0	118.0					19																	55144664		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144664C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1156C>T	19.37:g.55144664C>T	ENSP00000379622:p.Pro386Ser	HNSCC(37;0.09)				LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR	p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1513	+			386			Ig-like C2-type 4.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1156C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808748	0.31961	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02579	4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24	2.25	-1.5	0.08691	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.077090	0.07317	N	0.877007	T	0.13500	0.0327	M	0.83223	2.63	0.09310	N	1	D;D;D;D;D	0.71674	0.972;0.969;0.998;0.984;0.975	P;P;D;P;P	0.70016	0.759;0.868;0.967;0.868;0.893	T	0.18618	-1.0331	10	0.72032	D	0.01	.	8.1219	0.30976	0.0:0.3493:0.6507:0.0	.	386;386;386;386;386	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	386;386;386;386;386;386;386;386;422;386;386	ENSP00000379614:P386S;ENSP00000391514:P386S;ENSP00000409968:P386S;ENSP00000379622:P386S;ENSP00000379618:P386S;ENSP00000315997:P386S;ENSP00000405243:P386S;ENSP00000379623:P386S;ENSP00000395004:P422S;ENSP00000379610:P386S;ENSP00000379608:P386S	ENSP00000315997:P386S	P	+	1	0	LILRB1	59836476	0.013000	0.17824	0.017000	0.16124	0.014000	0.08584	-0.060000	0.11712	0.143000	0.18926	0.205000	0.17691	CCT		0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			32	105	0	0	0	0.00178596	0	32	105				
KIF19	124602	broad.mit.edu	37	17	72341019	72341019	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:72341019C>T	ENST00000389916.4	+	7	840	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCGGGTCAAGAACATCT	0.697																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(700-702)gtC>gtT		kinesin family member 19							29.0	31.0	30.0					17																	72341019		2201	4298	6499	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72341019C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.702C>T	17.37:g.72341019C>T							p.V234V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	840	+			234			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.702C>T	CCDS32718.2																																																																																				0.697	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		10	26	0	0	0	0.000673444	0	10	26				
KIF17	57576	broad.mit.edu	37	1	21013938	21013938	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:21013938G>A	ENST00000247986.2	-	8	2191	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	627					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1879-1881)tcC>tcT		kinesin family member 17							97.0	90.0	92.0					1																	21013938		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21013938G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1881C>T	1.37:g.21013938G>A						KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron	p.S627S			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	2191	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	627					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1881C>T	CCDS213.1																																																																																				0.637	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		34	72	0	0	0	0.00428921	0	34	72				
MRGPRX3	117195	broad.mit.edu	37	11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:18158957G>A	ENST00000396275.2	+	3	569	c.208G>A	c.(208-210)Gcg>Acg	p.A70T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAACCTGGTCGCGGCCGACTT	0.567																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(208-210)Gcg>Acg		MAS-related GPR, member X3		G	THR/ALA	1,4399	2.1+/-5.4	0,1,2199	97.0	93.0	94.0		208	-0.7	0.0	11	dbSNP_134	94	1,8585	1.2+/-3.3	0,1,4292	no	missense	MRGPRX3	NM_054031.3	58	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	benign	70/323	18158957	2,12984	2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158957G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.208G>A	11.37:g.18158957G>A	ENSP00000379571:p.Ala70Thr						p.A70T	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	569	+			70					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.208G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912710	0.17907	2.27E-4	1.16E-4	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.19938	2.11;2.11	1.46	-0.7	0.11273	GPCR, rhodopsin-like superfamily (1);	1.571520	0.03654	N	0.241532	T	0.25901	0.0631	M	0.78049	2.395	0.09310	N	1	P	0.47545	0.897	B	0.40444	0.329	T	0.33497	-0.9866	10	0.51188	T	0.08	.	5.0881	0.14693	0.5518:0.0:0.4482:0.0	.	70	Q96LB0	MRGX3_HUMAN	T	70	ENSP00000379571:A70T;ENSP00000436242:A70T	ENSP00000379571:A70T	A	+	1	0	MRGPRX3	18115533	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.041000	0.13927	-0.206000	0.10203	-1.179000	0.01719	GCG		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		44	76	0	0	0	0.0025221	0	44	76				
TRIM51	84767	broad.mit.edu	37	11	55653151	55653151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:55653151C>T	ENST00000449290.2	+	2	339	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	83						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGCCAGCCTCCGGCAATTCCT	0.483																																						ENST00000449290.2																			0											c.(247-249)Cgg>Tgg		tripartite motif-containing 51							17.0	15.0	16.0					11																	55653151		692	1590	2282	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653151C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.247C>T	11.37:g.55653151C>T	ENSP00000395086:p.Arg83Trp						p.R83W	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	339	+			83					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.247C>T		.	.	.	.	.	.	.	.	.	.	.	0.878	-0.729638	0.03135	.	.	ENSG00000124900	ENST00000449290	T	0.63096	-0.02	.	.	.	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.34861	0.0912	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10520	-1.0626	8	0.52906	T	0.07	.	5.1874	0.15191	0.3697:0.6303:0.0:0.0	.	83	Q9BSJ1	SPRY5_HUMAN	W	83	ENSP00000395086:R83W	ENSP00000395086:R83W	R	+	1	2	SPRYD5	55409727	0.002000	0.14202	0.027000	0.17364	0.057000	0.15508	-1.326000	0.02685	-1.461000	0.01909	-1.906000	0.00525	CGG		0.483	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		7	14	0	0	0	0.00198382	0	7	14				
DOT1L	84444	broad.mit.edu	37	19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:2214510C>T	ENST00000398665.3	+	19	1874	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	613					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGGGCCACGCTGTCGCTG	0.647																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1837-1839)aCg>aTg		DOT1-like histone H3K79 methyltransferase							33.0	38.0	37.0					19																	2214510		2130	4246	6376	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2214510C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1838C>T	19.37:g.2214510C>T	ENSP00000381657:p.Thr613Met					DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	p.T613M	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	1874	+		Hepatocellular(1079;0.137)	613					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1838C>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102585|4.102585	0.76983|0.76983	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.32023	.|1.47	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.102381	.|0.64402	.|D	.|0.000003	T|T	0.54679|0.54679	0.1873|0.1873	M|M	0.68952|0.68952	2.095|2.095	0.47511|0.47511	D|D	0.999448|0.999448	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	T|T	0.59752|0.59752	-0.7395|-0.7395	5|10	.|0.87932	.|D	.|0	-22.5585|-22.5585	16.981|16.981	0.86327|0.86327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|613	.|Q8TEK3-2	.|.	C|M	400|613	.|ENSP00000381657:T613M	.|ENSP00000221482:T613M	R|T	+|+	1|2	0|0	DOT1L|DOT1L	2165510|2165510	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.656000|0.656000	0.38851|0.38851	7.139000|7.139000	0.77314|0.77314	2.309000|2.309000	0.77851|0.77851	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		14	25	0	0	0	0.00316338	0	14	25				
PTGR2	145482	broad.mit.edu	37	14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T	rs376183153		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:74327274C>T	ENST00000555661.1	+	3	215	c.70C>T	c.(70-72)Cga>Tga	p.R24*	RP5-1021I20.4_ENST00000556551.2_Nonsense_Mutation_p.R24*|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000553813.1_5'UTR|Y_RNA_ENST00000411368.1_RNA			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AGAGAATTTCCGAATGGAAGA	0.284																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(70-72)Cga>Tga		prostaglandin reductase 2		C	stop/ARG,stop/ARG,stop/ARG	0,4404		0,0,2202	64.0	71.0	68.0		70,70,70	3.0	1.0	14		68	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained,stop-gained,stop-gained	PTGR2	NM_001146154.1,NM_001146155.1,NM_152444.2	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	24/352,24/352,24/352	74327274	1,12995	2202	4296	6498	SO:0001587	stop_gained	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74327274C>T	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.70C>T	14.37:g.74327274C>T	ENSP00000452280:p.Arg24*					RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000554885.1_5'UTR	p.R24*			Q8N8N7	PTGR2_HUMAN			3	215	+			24					Q3L8A4|Q6MZH8	Nonsense_Mutation	SNP	ENST00000555661.1	37	c.70C>T	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	37	6.374414	0.97515	0.0	1.16E-4	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	.	.	.	5.93	2.99	0.34606	.	0.050554	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8354	8.1247	0.30992	0.411:0.5167:0.0:0.0723	.	.	.	.	X	24	.	ENSP00000267568:R24X	R	+	1	2	PTGR2	73397027	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	1.369000	0.34227	0.341000	0.23771	0.591000	0.81541	CGA		0.284	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			22	38	0	0	0	0.00278032	0	22	38				
TECPR2	9895	broad.mit.edu	37	14	102874944	102874944	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:102874944G>C	ENST00000359520.7	+	4	694	c.468G>C	c.(466-468)ctG>ctC	p.L156L	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.L156L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATTCTTCTCTGGATCTAGACC	0.338																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(466-468)ctG>ctC		tectonin beta-propeller repeat containing 2							110.0	116.0	114.0					14																	102874944		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102874944G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.468G>C	14.37:g.102874944G>C						TECPR2_ENST00000558678.1_Silent_p.L156L|TECPR2_ENST00000561228.1_3'UTR	p.L156L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			4	694	+			156					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.468G>C	CCDS32162.1																																																																																				0.338	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		19	48	0	0	0	0.00121646	0	19	48				
ZNF804B	219578	broad.mit.edu	37	7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:88963629C>G	ENST00000333190.4	+	4	1942	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1333-1335)Cac>Gac		zinc finger protein 804B							70.0	69.0	69.0					7																	88963629		2202	4297	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963629C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1333C>G	7.37:g.88963629C>G	ENSP00000329638:p.His445Asp	HNSCC(36;0.09)					p.H445D	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1942	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		445					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1333C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444862	0.43429	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.49	5.49	0.81192	.	0.168110	0.42682	D	0.000664	T	0.11410	0.0278	L	0.56769	1.78	0.29748	N	0.836547	D	0.54397	0.966	P	0.47299	0.543	T	0.04855	-1.0922	10	0.30078	T	0.28	-11.4062	14.4168	0.67155	0.1473:0.8527:0.0:0.0	.	445	A4D1E1	Z804B_HUMAN	D	445	ENSP00000329638:H445D	ENSP00000329638:H445D	H	+	1	0	ZNF804B	88801565	0.998000	0.40836	0.995000	0.50966	0.783000	0.44284	2.389000	0.44407	2.865000	0.98341	0.655000	0.94253	CAC		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	59	0	0	0	0.00024832	0	3	59				
FSIP2	401024	broad.mit.edu	37	2	186670771	186670771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:186670771G>A	ENST00000424728.1	+	17	16738	c.16738G>A	c.(16738-16740)Gat>Aat	p.D5580N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5669N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5580										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAAAGATGATGAGATATA	0.274																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17005-17007)Gat>Aat		fibrous sheath interacting protein 2							62.0	65.0	64.0					2																	186670771		1789	4057	5846	SO:0001583	missense	401024							g.chr2:186670771G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16738G>A	2.37:g.186670771G>A	ENSP00000401306:p.Asp5580Asn					FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N	p.D5669N	NM_173651.2	NP_775922.2					17	17005	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17005G>A		.	.	.	.	.	.	.	.	.	.	G	2.055	-0.416680	0.04766	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.42513	0.97;0.97	5.17	-3.51	0.04696	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.18147	-1.0346	7	0.19147	T	0.46	.	1.9131	0.03291	0.364:0.2283:0.3004:0.1073	.	.	.	.	N	5669;5580	ENSP00000344403:D5669N;ENSP00000401306:D5580N	ENSP00000344403:D5669N	D	+	1	0	FSIP2	186379016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-0.990000	0.03481	-3.039000	0.00071	GAT		0.274	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		38	80	0	0	0	0.00148497	0	38	80				
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:155887399T>G	ENST00000368321.3	-	11	1354	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q444P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.						RNA binding (GO:0003723)	p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562																																						ENST00000368320.3																			1	Substitution - Missense(1)	p.Q444P(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1330-1332)cAg>cCg		KIAA0907							10.0	13.0	12.0					1																	155887399		2180	4260	6440	SO:0001583	missense	22889							g.chr1:155887399T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1331A>C	1.37:g.155887399T>G	ENSP00000357304:p.Gln444Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P	p.Q444P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1356	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		444			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1331A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164445	0.38217	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.27402	1.67;1.67	5.49	4.36	0.52297	.	0.380168	0.30464	N	0.009568	T	0.18215	0.0437	N	0.19112	0.55	0.44789	D	0.997794	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.05209	-1.0899	10	0.06494	T	0.89	-0.2991	11.4897	0.50373	0.0:0.0:0.1502:0.8498	.	444;444	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	444	ENSP00000357304:Q444P;ENSP00000357303:Q444P	ENSP00000357303:Q444P	Q	-	2	0	KIAA0907	154154023	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.594000	0.24014	0.999000	0.39023	0.533000	0.62120	CAG		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		4	13	0	0	0	0.00024832	0	4	13				
ZNF124	7678	broad.mit.edu	37	1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:247320151C>G	ENST00000543802.2	-	4	862	c.773G>C	c.(772-774)gGt>gCt	p.G258A	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000340684.6_Missense_Mutation_p.G196A			Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(586-588)gGt>gCt		zinc finger protein 124							130.0	126.0	127.0					1																	247320151		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320151C>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.773G>C	1.37:g.247320151C>G	ENSP00000440365:p.Gly258Ala					ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A	p.G196A	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	725	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		258					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.587G>C		.	.	.	.	.	.	.	.	.	.	C	16.89	3.247094	0.59103	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T;T	0.26373	1.74;4.82	0.864	0.864	0.19068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45458	0.1343	M	0.78456	2.415	0.42862	D	0.99411	D;D	0.76494	0.996;0.999	P;D	0.73380	0.781;0.98	T	0.47045	-0.9147	9	0.87932	D	0	.	7.5457	0.27766	0.0:1.0:0.0:0.0	.	258;196	Q15973;Q15973-4	ZN124_HUMAN;.	A	219;196;202	ENSP00000340749:G196A;ENSP00000440365:G202A	ENSP00000340749:G196A	G	-	2	0	ZNF124	245386774	0.401000	0.25303	0.010000	0.14722	0.370000	0.29829	1.437000	0.34991	0.746000	0.32786	0.467000	0.42956	GGT		0.438	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		32	68	0	0	0	0.00178596	0	32	68				
SOAT2	8435	broad.mit.edu	37	12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53509227C>T	ENST00000301466.3	+	6	557	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	166					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CTGCCATTGGCGCTGGTGACC	0.612																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(496-498)gCg>gTg		sterol O-acyltransferase 2							53.0	54.0	53.0					12																	53509227		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509227C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.497C>T	12.37:g.53509227C>T	ENSP00000301466:p.Ala166Val						p.A166V	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			6	557	+			166					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.497C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356127	0.24598	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.72615	2.39;-0.67	5.2	5.2	0.72013	.	0.133719	0.51477	D	0.000087	T	0.40448	0.1117	N	0.04355	-0.22	0.41980	D	0.990792	P	0.47962	0.903	B	0.31245	0.126	T	0.58059	-0.7703	10	0.02654	T	1	-6.8264	17.9076	0.88923	0.0:1.0:0.0:0.0	.	166	O75908	SOAT2_HUMAN	V	146;166	ENSP00000450120:A146V;ENSP00000301466:A166V	ENSP00000301466:A166V	A	+	2	0	SOAT2	51795494	0.638000	0.27225	1.000000	0.80357	0.976000	0.68499	1.019000	0.30014	2.611000	0.88343	0.655000	0.94253	GCG		0.612	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			14	29	0	0	0	0.00400662	0	14	29				
ZNF525	170958	broad.mit.edu	37	19	53884457	53884457	+	5'Flank	SNP	C	C	T	rs531436305		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:53884457C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C|ZNF525_ENST00000467003.1_Missense_Mutation_p.R173C|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						ACAGGAAGTACGCATGAGAGA	0.348																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(517-519)Cgc>Tgc		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884457C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884457C>T	Exception_encountered					ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C	p.R173C							4	718	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	T	6.530	0.465946	0.12402	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.28255	1.62;1.62	1.25	0.1	0.14510	.	.	.	.	.	T	0.32133	0.0819	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	6	0.59425	D	0.04	.	8.8982	0.35479	0.0:0.8409:0.0:0.1591	.	.	.	.	C	209;173	ENSP00000417696:R209C;ENSP00000419136:R173C	ENSP00000419136:R173C	R	+	1	0	ZNF525	58576269	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.221000	0.17680	-0.264000	0.09365	-2.194000	0.00310	CGC		0.348	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		23	55	0	0	0	0.00278032	0	23	55				
PRMT6	55170	broad.mit.edu	37	1	107600207	107600207	+	Missense_Mutation	SNP	C	C	G	rs543871651	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:107600207C>G	ENST00000370078.1	+	1	907	c.870C>G	c.(868-870)atC>atG	p.I290M	PRMT6_ENST00000361318.5_Missense_Mutation_p.I231M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	290	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCTTTGCCATCTGGTTCCAGG	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15136	0.0		0.001	False		,,,				2504	0.0					ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(691-693)atC>atG		protein arginine methyltransferase 6							26.0	30.0	29.0					1																	107600207		1951	4165	6116	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600207C>G	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.870C>G	1.37:g.107600207C>G	ENSP00000359095:p.Ile290Met					PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M	p.I231M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	941	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	290					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.693C>G	CCDS41360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.55|11.55	1.673022|1.673022	0.29693|0.29693	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.22336|.	1.96;1.96|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.381513|.	0.26099|.	N|.	0.026347|.	T|T	0.27697|0.27697	0.0681|0.0681	L|L	0.39898|0.39898	1.24|1.24	0.27510|0.27510	N|N	0.951724|0.951724	B|.	0.14012|.	0.009|.	B|.	0.20184|.	0.028|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|6	0.46703|0.87932	T|D	0.11|0	-10.0351|-10.0351	9.2146|9.2146	0.37339|0.37339	0.0:0.9043:0.0:0.0957|0.0:0.9043:0.0:0.0957	.|.	290|.	Q96LA8|.	ANM6_HUMAN|.	M|V	231;290|184	ENSP00000355145:I231M;ENSP00000359095:I290M|.	ENSP00000355145:I231M|ENSP00000440829:L184V	I|L	+|+	3|1	3|2	PRMT6|PRMT6	107401730|107401730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.712000|0.712000	0.25779|0.25779	2.584000|2.584000	0.87258|0.87258	0.442000|0.442000	0.29010|0.29010	ATC|CTG		0.662	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		15	36	0	0	0	0.00316338	0	15	36				
WDR60	55112	broad.mit.edu	37	7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T	rs373833205		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:158695196A>T	ENST00000407559.3	+	10	1425	c.1267A>T	c.(1267-1269)Att>Ttt	p.I423F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1267-1269)Att>Ttt		WD repeat domain 60							128.0	120.0	123.0					7																	158695196		1829	4085	5914	SO:0001583	missense	55112							g.chr7:158695196A>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1267A>T	7.37:g.158695196A>T	ENSP00000384290:p.Ile423Phe						p.I423F	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	10	1425	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	423					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.1267A>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060108	0.76074	.	.	ENSG00000126870	ENST00000407559	T	0.26223	1.75	4.68	4.68	0.58851	.	0.057169	0.64402	D	0.000001	T	0.49150	0.1540	M	0.74881	2.28	0.48762	D	0.999704	D	0.89917	1.0	D	0.73708	0.981	T	0.52881	-0.8516	10	0.66056	D	0.02	-21.249	12.3793	0.55297	1.0:0.0:0.0:0.0	.	423	Q8WVS4	WDR60_HUMAN	F	423	ENSP00000384290:I423F	ENSP00000384290:I423F	I	+	1	0	WDR60	158387957	1.000000	0.71417	0.880000	0.34516	0.804000	0.45430	6.895000	0.75660	1.886000	0.54624	0.459000	0.35465	ATT		0.368	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		19	67	0	0	0	0.000958276	0	19	67				
NCOA1	8648	broad.mit.edu	37	2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:24929972A>G	ENST00000406961.1	+	13	2285	c.1633A>G	c.(1633-1635)Aat>Gat	p.N545D	NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000405141.1_Missense_Mutation_p.N545D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	545	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1633-1635)Aat>Gat		nuclear receptor coactivator 1							72.0	74.0	74.0					2																	24929972		2200	4300	6500	SO:0001583	missense	8648							g.chr2:24929972A>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1633A>G	2.37:g.24929972A>G	ENSP00000385216:p.Asn545Asp					NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D	p.N545D			Q15788	NCOA1_HUMAN			14	2344	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		545			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1633A>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445448	0.43429	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01981	4.63;4.63;4.52;4.63;4.63;4.63;4.63	5.64	4.42	0.53409	.	0.351097	0.32802	N	0.005623	T	0.02929	0.0087	L	0.47716	1.5	0.30533	N	0.767213	B;B;B;B	0.32467	0.372;0.255;0.372;0.005	B;B;B;B	0.30316	0.114;0.053;0.114;0.005	T	0.07597	-1.0764	10	0.54805	T	0.06	.	11.3489	0.49577	0.8641:0.0:0.0:0.1359	.	545;545;545;394	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	545;545;394;545;545;545;545	ENSP00000385216:N545D;ENSP00000385097:N545D;ENSP00000385195:N394D;ENSP00000444039:N545D;ENSP00000320940:N545D;ENSP00000288599:N545D;ENSP00000379197:N545D	ENSP00000288599:N545D	N	+	1	0	NCOA1	24783476	0.798000	0.28890	1.000000	0.80357	0.997000	0.91878	2.004000	0.40854	2.148000	0.66965	0.533000	0.62120	AAT		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		9	38	0	0	0	0.00448238	0	9	38				
DDC	1644	broad.mit.edu	37	7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:50605594C>G	ENST00000444124.2	-	4	599	c.399G>C	c.(397-399)ttG>ttC	p.L133F	DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000357936.5_Missense_Mutation_p.L133F	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	133	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTTTCTCATTCAAAAATGCCT	0.572																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(397-399)ttG>ttC		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						112.0	102.0	105.0					7																	50605594		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50605594C>G		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.399G>C	7.37:g.50605594C>G	ENSP00000403644:p.Leu133Phe					DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA	p.L133F	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			4	599	-	Glioma(55;0.08)|all_neural(89;0.245)		133			2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.399G>C	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962554	0.34659	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.62	2.42	0.29668	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.134847	0.49916	D	0.000122	T	0.66982	0.2845	M	0.93016	3.37	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.68577	-0.5372	10	0.87932	D	0	-9.7144	7.1199	0.25437	0.0:0.5466:0.0:0.4534	.	133	P20711	DDC_HUMAN	F	133	ENSP00000350616:L133F;ENSP00000399184:L133F;ENSP00000403644:L133F;ENSP00000370371:L133F	ENSP00000350616:L133F	L	-	3	2	DDC	50573088	1.000000	0.71417	0.010000	0.14722	0.004000	0.04260	0.684000	0.25364	0.728000	0.32382	0.591000	0.81541	TTG		0.572	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			22	64	0	0	0	0.00152264	0	22	64				
PCDHA12	56137	broad.mit.edu	37	5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:140256564G>A	ENST00000398631.2	+	1	1507	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1507-1509)Gca>Aca									67.0	68.0	68.0					5																	140256564		2203	4299	6502	SO:0001583	missense	56137							g.chr5:140256564G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1507G>A	5.37:g.140256564G>A	ENSP00000381628:p.Ala503Thr					PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.A503T	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1507	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1507G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233753	0.22626	.	.	ENSG00000251664	ENST00000398631	T	0.50548	0.74	4.98	-2.69	0.06022	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22820	0.0551	N	0.11341	0.13	0.09310	N	1	P;B	0.35807	0.522;0.241	B;B	0.36464	0.225;0.037	T	0.15983	-1.0418	9	0.56958	D	0.05	.	2.097	0.03670	0.1606:0.3961:0.1537:0.2896	.	503;503	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	503	ENSP00000381628:A503T	ENSP00000381628:A503T	A	+	1	0	PCDHA12	140236748	0.000000	0.05858	0.002000	0.10522	0.492000	0.33523	-0.869000	0.04232	-0.440000	0.07211	-0.225000	0.12378	GCA		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	87	0	0	0	0.000442599	0	8	87				
CDYL2	124359	broad.mit.edu	37	16	80718469	80718469	+	Silent	SNP	G	G	A	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:80718469G>A	ENST00000570137.2	-	2	737	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000562753.1_5'Flank|CDYL2_ENST00000562812.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGTGATTCACGTCACATTCAC	0.527													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20089	0.0		0.0	False		,,,				2504	0.0					ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(580-582)gaC>gaT		chromodomain protein, Y-like 2		G		0,4406		0,0,2203	140.0	116.0	124.0		582	-10.3	0.0	16	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDYL2	NM_152342.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		194/507	80718469	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718469G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.582C>T	16.37:g.80718469G>A						CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D	p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	737	-			194					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.582C>T	CCDS32493.1																																																																																				0.527	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		15	59	0	0	0	0.000566183	0	15	59				
HDAC4	9759	broad.mit.edu	37	2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:239988450C>A	ENST00000345617.3	-	24	3747	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	AC017028.3_ENST00000584260.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.9_ENST00000581111.1_RNA|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*|AC017028.4_ENST00000577359.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.2_ENST00000578555.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2956-2958)Gaa>Taa		histone deacetylase 4							91.0	90.0	90.0					2																	239988450		2203	4300	6503	SO:0001587	stop_gained	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239988450C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2956G>T	2.37:g.239988450C>A	ENSP00000264606:p.Glu986*					HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*	p.E986*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	24	3747	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	986			Histone deacetylase.		Q9UND6	Nonsense_Mutation	SNP	ENST00000345617.3	37	c.2956G>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	37	6.076545	0.97262	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4493	0.87587	0.0:1.0:0.0:0.0	.	.	.	.	X	986;874;570	.	ENSP00000264606:E986X	E	-	1	0	HDAC4	239653387	1.000000	0.71417	0.985000	0.45067	0.840000	0.47671	7.342000	0.79310	2.288000	0.76882	0.591000	0.81541	GAA		0.642	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		32	45	1	0	6.00712e-18	0.0024448	1.74207e-17	32	45				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	53	0	0	0	0.00024832	0	3	53				
ZNF708	7562	broad.mit.edu	37	19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:21476934T>G	ENST00000356929.3	-	4	1031	c.834A>C	c.(832-834)aaA>aaC	p.K278N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTTGTAGGGTTTCTCTCCAG	0.373																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(832-834)aaA>aaC		zinc finger protein 708							49.0	53.0	52.0					19																	21476934		2185	4294	6479	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476934T>G	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.834A>C	19.37:g.21476934T>G	ENSP00000349401:p.Lys278Asn						p.K278N	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1031	-			278					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.834A>C	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	8.026	0.760795	0.15914	.	.	ENSG00000182141	ENST00000356929	T	0.26067	1.76	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43033	0.1229	M	0.83384	2.64	0.29909	N	0.82371	D	0.64830	0.994	P	0.60117	0.869	T	0.40720	-0.9548	9	0.87932	D	0	.	3.8073	0.08782	0.0:0.2333:0.0:0.7667	.	278	P17019	ZN708_HUMAN	N	278	ENSP00000349401:K278N	ENSP00000349401:K278N	K	-	3	2	ZNF708	21268774	0.006000	0.16342	0.567000	0.28434	0.511000	0.34104	-0.765000	0.04730	0.408000	0.25621	0.397000	0.26171	AAA		0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		23	54	0	0	0	0.00395357	0	23	54				
FLG	2312	broad.mit.edu	37	1	152279921	152279921	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:152279921A>G	ENST00000368799.1	-	3	7476	c.7441T>C	c.(7441-7443)Ttg>Ctg	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACCAATTGCTCGTAG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7441-7443)Ttg>Ctg		filaggrin							354.0	328.0	337.0					1																	152279921		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279921A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7441T>C	1.37:g.152279921A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L2481L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7476	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2481			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7441T>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	534	0	0	0	0.000602214	0	5	534				
MPZL3	196264	broad.mit.edu	37	11	118107898	118107898	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:118107898T>C	ENST00000278949.4	-	3	373	c.318A>G	c.(316-318)gtA>gtG	p.V106V	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	106	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(316-318)gtA>gtG		myelin protein zero-like 3							208.0	194.0	199.0					11																	118107898		2200	4296	6496	SO:0001819	synonymous_variant	196264				cell adhesion	integral to membrane		g.chr11:118107898T>C	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.318A>G	11.37:g.118107898T>C						MPZL3_ENST00000527472.1_Silent_p.V94V|MPZL3_ENST00000525386.1_Intron	p.V106V			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	373	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	106			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	c.318A>G	CCDS8392.1																																																																																				0.428	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		61	71	0	0	0	0.00361006	0	61	71				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	162	0	0	0	0.00307968	0	6	162				
NAA15	80155	broad.mit.edu	37	4	140265372	140265372	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:140265372T>C	ENST00000296543.5	+	6	893	c.570T>C	c.(568-570)agT>agC	p.S190S	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.S190S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	190					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAATATAGTGAACTACTCT	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(568-570)agT>agC		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							84.0	77.0	79.0					4																	140265372		1811	4077	5888	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140265372T>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.570T>C	4.37:g.140265372T>C						NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.S190S	p.S190S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			6	893	+			190					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.570T>C	CCDS43270.1																																																																																				0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		3	43	0	0	0	6.4e-05	0	3	43				
CBR4	84869	broad.mit.edu	37	4	169927998	169927998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927998T>C	ENST00000306193.3	-	3	476	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCAT	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(307-309)cAg>cGg		carbonyl reductase 4							193.0	191.0	192.0					4																	169927998		2203	4300	6503	SO:0001583	missense	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169927998T>C	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.308A>G	4.37:g.169927998T>C	ENSP00000303525:p.Gln103Arg					CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R	p.Q103R	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	476	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	103					Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	c.308A>G	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889201	0.52014	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.87334	-2.24;-2.24;-2.24	5.87	3.34	0.38264	NAD(P)-binding domain (1);	0.458965	0.23534	N	0.047155	T	0.81432	0.4821	L	0.41492	1.28	0.31276	N	0.691139	P	0.45283	0.855	B	0.42245	0.381	T	0.78331	-0.2245	9	.	.	.	.	10.3649	0.44017	0.378:0.0:0.0:0.622	.	103	Q8N4T8	CBR4_HUMAN	R	103;103;100	ENSP00000303525:Q103R;ENSP00000427615:Q103R;ENSP00000423128:Q100R	.	Q	-	2	0	CBR4	170164573	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.639000	0.46570	0.426000	0.26116	-0.336000	0.08194	CAG		0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		6	151	0	0	0	0.00307968	0	6	151				
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453																																						ENST00000478945.1																			1	Substitution - Missense(1)	p.R101L(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(301-303)cGg>cAg		developmental pluripotency associated 2							195.0	200.0	198.0					3																	109028057		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028057C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.302G>A	3.37:g.109028057C>T	ENSP00000417710:p.Arg101Gln						p.R101Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	548	-			101			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.302G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606016	0.46527	.	.	ENSG00000163530	ENST00000478945	T	0.60299	0.2	4.48	3.6	0.41247	DNA-binding SAP (2);	0.138820	0.33161	N	0.005214	T	0.68522	0.3010	M	0.64170	1.965	0.26220	N	0.979166	D	0.89917	1.0	D	0.87578	0.998	T	0.58183	-0.7681	10	0.87932	D	0	-12.9163	7.6849	0.28534	0.0:0.8885:0.0:0.1115	.	101	Q7Z7J5	DPPA2_HUMAN	Q	101	ENSP00000417710:R101Q	ENSP00000417710:R101Q	R	-	2	0	DPPA2	110510747	0.128000	0.22383	0.899000	0.35326	0.022000	0.10575	0.531000	0.23052	2.489000	0.83994	0.561000	0.74099	CGG		0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		42	182	0	0	0	0.00195071	0	42	182				
OR52E2	119678	broad.mit.edu	37	11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T	rs201289601	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5080067C>T	ENST00000321522.2	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCGGCCAAAGCGATGAGTCAT	0.473													C|||	3	0.000599042	0.0	0.0	5008	,	,		18279	0.0		0.0	False		,,,				2504	0.0031					ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(790-792)cGc>cAc		olfactory receptor, family 52, subfamily E, member 2		C	HIS/ARG	0,4402		0,0,2201	91.0	91.0	91.0		791	0.9	0.9	11		91	2,8594	2.2+/-6.3	0,2,4296	no	missense	OR52E2	NM_001005164.2	29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	264/326	5080067	2,12996	2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080067C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.791G>A	11.37:g.5080067C>T	ENSP00000322088:p.Arg264His						p.R264H	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	790	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	264		R -> C (in dbSNP:rs2500052).				Missense_Mutation	SNP	ENST00000321522.2	37	c.791G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635123	0.29068	0.0	2.33E-4	ENSG00000176787	ENST00000321522	T	0.37235	1.21	3.76	0.879	0.19155	GPCR, rhodopsin-like superfamily (1);	0.123911	0.34200	N	0.004162	T	0.45836	0.1362	M	0.93016	3.37	0.25354	N	0.988843	P	0.47106	0.89	P	0.44990	0.466	T	0.47736	-0.9094	10	0.72032	D	0.01	.	4.6513	0.12596	0.1564:0.576:0.0:0.2676	.	264	Q8NGJ4	O52E2_HUMAN	H	264	ENSP00000322088:R264H	ENSP00000322088:R264H	R	-	2	0	OR52E2	5036643	0.003000	0.15002	0.891000	0.34965	0.659000	0.38960	1.956000	0.40382	0.224000	0.20940	-0.138000	0.14375	CGC		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		6	75	0	0	0	0.00116845	0	6	75				
MUC17	140453	broad.mit.edu	37	7	100677784	100677784	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:100677784T>C	ENST00000306151.4	+	3	3151	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGGTACCAGCATGC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3085-3087)ggT>ggC		mucin 17, cell surface associated							490.0	392.0	425.0					7																	100677784		2203	4298	6501	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677784T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3087T>C	7.37:g.100677784T>C							p.G1029G	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3151	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1029			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3087T>C	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		178	464	0	0	0	0.00361006	0	178	464				
OR52N1	79473	broad.mit.edu	37	11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5809698G>C	ENST00000317078.1	-	1	348	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(349-351)Ctc>Gtc		olfactory receptor, family 52, subfamily N, member 1							162.0	143.0	149.0					11																	5809698		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809698G>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.349C>G	11.37:g.5809698G>C	ENSP00000322823:p.Leu117Val					TRIM5_ENST00000380027.1_Intron	p.L117V	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	348	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	117					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.349C>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116913	0.77323	.	.	ENSG00000181001	ENST00000317078	T	0.06449	3.3	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000456	T	0.41396	0.1157	H	0.97918	4.105	0.41040	D	0.985226	D	0.89917	1.0	D	0.91635	0.999	T	0.64495	-0.6394	10	0.87932	D	0	.	16.492	0.84203	0.0:0.0:1.0:0.0	.	117	Q8NH53	O52N1_HUMAN	V	117	ENSP00000322823:L117V	ENSP00000322823:L117V	L	-	1	0	OR52N1	5766274	0.436000	0.25586	1.000000	0.80357	0.959000	0.62525	1.056000	0.30480	2.528000	0.85240	0.609000	0.83330	CTC		0.498	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		22	77	0	0	0	0.00332997	0	22	77				
ANO8	57719	broad.mit.edu	37	19	17436103	17436103	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:17436103G>A	ENST00000159087.4	-	17	2912	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	918					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTCCCGCCGGGCATGGTGCT	0.697																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2752-2754)gcC>gcT		anoctamin 8							27.0	29.0	28.0					19																	17436103		2203	4297	6500	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17436103G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2754C>T	19.37:g.17436103G>A							p.A918A	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	2912	-			918					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2754C>T	CCDS32949.1																																																																																				0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		15	32	0	0	0	0.000566183	0	15	32				
COX7A2	1347	broad.mit.edu	37	6	75947582	75947582	+	3'UTR	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:75947582T>C	ENST00000230459.4	-	0	509				COX7A2_ENST00000472311.2_Nonstop_Mutation_p.*77W|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						CGGTTATTTATCAGATTACTG	0.418																																						ENST00000472311.2																			0				kidney(2)|lung(1)	3						c.(229-231)tgA>tgG		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							44.0	42.0	43.0					6																	75947582		692	1591	2283	SO:0001624	3_prime_UTR_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75947582T>C	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.*64A>G	6.37:g.75947582T>C						COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000230459.4_3'UTR	p.*77W			P14406	CX7A2_HUMAN			3	281	-			0					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Nonstop_Mutation	SNP	ENST00000230459.4	37	c.231A>G		.	.	.	.	.	.	.	.	.	.	T	6.620	0.482812	0.12581	.	.	ENSG00000112695	ENST00000472311	.	.	.	4.9	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0082	0.03481	0.1558:0.0887:0.3229:0.4326	.	.	.	.	W	77	.	.	X	-	3	0	COX7A2	76004302	0.147000	0.22687	0.006000	0.13384	0.274000	0.26718	1.008000	0.29872	0.788000	0.33755	0.533000	0.62120	TGA		0.418	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		6	15	0	0	0	0.00116845	0	6	15				
GUCY1A3	2982	broad.mit.edu	37	4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:156634710A>T	ENST00000296518.7	+	7	1756	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	516	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1546-1548)cAg>cTg		guanylate cyclase 1, soluble, alpha 3							48.0	42.0	44.0					4																	156634710		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634710A>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1547A>T	4.37:g.156634710A>T	ENSP00000296518:p.Gln516Leu					GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L	p.Q516L			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1756	+	all_hematologic(180;0.24)	Renal(120;0.0854)	516			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1547A>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759482	0.49468	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000014	T	0.48390	0.1497	N	0.01446	-0.86	0.58432	D	0.999999	P;P	0.43094	0.799;0.799	B;B	0.42495	0.389;0.389	T	0.61133	-0.7124	10	0.02654	T	1	.	16.1081	0.81237	1.0:0.0:0.0:0.0	.	516;516	B3KU69;Q02108	.;GCYA3_HUMAN	L	516;516;516;516;258;516;516	ENSP00000424361:Q516L;ENSP00000421493:Q516L;ENSP00000426968:Q516L;ENSP00000412201:Q516L;ENSP00000377418:Q258L;ENSP00000296518:Q516L;ENSP00000426040:Q516L	ENSP00000296518:Q516L	Q	+	2	0	GUCY1A3	156854160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.194000	0.70268	0.533000	0.62120	CAG		0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			6	37	0	0	0	0.00198382	0	6	37				
RFX6	222546	broad.mit.edu	37	6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:117237221C>A	ENST00000332958.2	+	8	847	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCTGGACAATGCAATTA	0.343																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(829-831)gaC>gaA		regulatory factor X, 6							126.0	124.0	125.0					6																	117237221		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237221C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.831C>A	6.37:g.117237221C>A	ENSP00000332208:p.Asp277Glu					RFX6_ENST00000471966.1_3'UTR	p.D277E	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			8	847	+			277					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.831C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198455	0.79015	.	.	ENSG00000185002	ENST00000332958	T	0.59083	0.29	5.75	3.34	0.38264	.	0.094859	0.64402	D	0.000001	T	0.65354	0.2683	M	0.71871	2.18	0.49687	D	0.999811	D	0.89917	1.0	D	0.76071	0.987	T	0.70821	-0.4768	10	0.87932	D	0	-20.3689	11.8332	0.52307	0.0:0.8069:0.0:0.1931	.	277	Q8HWS3	RFX6_HUMAN	E	277	ENSP00000332208:D277E	ENSP00000332208:D277E	D	+	3	2	RFX6	117343914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	1.179000	0.42884	0.585000	0.79938	GAC		0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		13	52	1	0	5.50884e-06	0.00136819	1.4861e-05	13	52				
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1207-1209)cAa>cGa		HtrA serine peptidase 3							102.0	91.0	95.0					4																	8307709		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307709A>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1208A>G	4.37:g.8307709A>G	ENSP00000303766:p.Gln403Arg						p.Q403R	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			9	1412	+			403			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1208A>G	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857947	0.17178	.	.	ENSG00000170801	ENST00000307358	T	0.71934	-0.61	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.281603	0.34652	N	0.003791	T	0.47340	0.1440	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.10111	T	0.7	-15.1546	13.3595	0.60648	1.0:0.0:0.0:0.0	.	403	P83110	HTRA3_HUMAN	R	403	ENSP00000303766:Q403R	ENSP00000303766:Q403R	Q	+	2	0	HTRA3	8358609	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.548000	0.60718	1.635000	0.50512	0.248000	0.18094	CAA		0.647	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		4	75	0	0	0	0.000602214	0	4	75				
T	6862	broad.mit.edu	37	6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:166571825G>T	ENST00000296946.2	-	9	1754	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	T_ENST00000366871.3_Missense_Mutation_p.P371H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	429					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1285-1287)cCt>cAt		T, brachyury homolog (mouse)							130.0	134.0	133.0					6																	166571825		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571825G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1286C>A	6.37:g.166571825G>T	ENSP00000296946:p.Pro429His					T_ENST00000366871.3_Missense_Mutation_p.P371H	p.P429H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1754	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	429					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1286C>A	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788325	0.16258	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84442	-1.79;-1.85	4.77	3.89	0.44902	.	0.388697	0.25747	N	0.028566	T	0.71600	0.3359	L	0.54323	1.7	0.20926	N	0.99982	B;B;B	0.26635	0.078;0.03;0.155	B;B;B	0.21151	0.024;0.027;0.033	T	0.67719	-0.5598	10	0.62326	D	0.03	.	14.4083	0.67099	0.0:0.1487:0.8513:0.0	.	371;429;371	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	H	429;429;371	ENSP00000296946:P429H;ENSP00000355836:P371H	ENSP00000296946:P429H	P	-	2	0	T	166491815	1.000000	0.71417	0.020000	0.16555	0.159000	0.22180	5.386000	0.66238	1.099000	0.41499	-0.165000	0.13383	CCT		0.612	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		14	158	1	0	1.05317e-09	0.00244969	2.93203e-09	14	158				
RP11-24M17.5	0	broad.mit.edu	37	15	76074702	76074702	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:76074702G>C	ENST00000395215.3	+	0	774				RN7SL319P_ENST00000480656.2_RNA																							CCGGTGGCAGGAGAGGATGTG	0.488																																						ENST00000395215.3																			0																																																			0							g.chr15:76074702G>C																													15.37:g.76074702G>C														0	774	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	0.572	-0.840702	0.02692	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	-0.552	0.11818	.	.	.	.	.	T	0.16471	0.0396	.	.	.	.	.	.	B	0.14012	0.009	B	0.17722	0.019	T	0.41840	-0.9486	6	0.02654	T	1	.	6.5853	0.22616	0.0:0.3986:0.6014:0.0	.	245	B4DZE6	.	Q	245	.	ENSP00000378641:E245Q	E	+	1	0	AC019294.2	73861757	1.000000	0.71417	0.041000	0.18516	0.003000	0.03518	0.910000	0.28571	-0.109000	0.12044	-1.029000	0.02412	GAG		0.488	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	120	0	0	0	0.000602214	0	4	120				
BTLA	151888	broad.mit.edu	37	3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:112198458C>A	ENST00000334529.5	-	2	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	83	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(247-249)Gaa>Taa		B and T lymphocyte associated							174.0	166.0	169.0					3																	112198458		2203	4300	6503	SO:0001587	stop_gained	151888				T cell costimulation		receptor activity	g.chr3:112198458C>A	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.247G>T	3.37:g.112198458C>A	ENSP00000333919:p.Glu83*					BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	p.E83*	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	449	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	83			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Nonsense_Mutation	SNP	ENST00000334529.5	37	c.247G>T	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024025	0.54683	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	.	.	.	3.27	0.276	0.15663	.	1.814990	0.02970	N	0.144279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.7286	1.7739	0.03017	0.2125:0.4581:0.2069:0.1225	.	.	.	.	X	83	.	ENSP00000333919:E83X	E	-	1	0	BTLA	113681148	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.421000	0.02455	0.049000	0.15920	0.655000	0.94253	GAA		0.408	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		21	96	1	0	1.50039e-11	0.00188189	4.24501e-11	21	96				
SMAD4	4089	broad.mit.edu	37	18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr18:48603080C>T	ENST00000342988.3	+	11	1919	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	461	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Poly-Ala.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1381-1383)Cag>Tag		SMAD family member 4							38.0	40.0	40.0					18																	48603080		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603080C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1381C>T	18.37:g.48603080C>T	ENSP00000341551:p.Gln461*					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1919	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	461			MH2.|Poly-Ala.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1381C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	43	10.112397	0.99339	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000341551:Q461X	Q	+	1	0	SMAD4	46857078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.665000	0.83852	2.861000	0.98227	0.655000	0.94253	CAG		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		12	23	0	0	0	0.00136819	0	12	23				
KCNMB1	3779	broad.mit.edu	37	5	169810824	169810824	+	Silent	SNP	C	C	A	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:169810824C>A	ENST00000274629.4	-	3	607	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	55					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TGGTCTCAATCAGGTGGCACT	0.567																																						ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(163-165)ctG>ctT		potassium large conductance calcium-activated channel, subfamily M, beta member 1		C	,	2,4404	4.2+/-10.8	0,2,2201	113.0	87.0	96.0		,165	4.7	1.0	5	dbSNP_134	96	0,8600		0,0,4300	no	intron,coding-synonymous	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	,	,55/192	169810824	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169810824C>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.165G>T	5.37:g.169810824C>A						KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	p.L55L	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	3	607	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	55					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.165G>T	CCDS4373.1																																																																																				0.567	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			8	16	1	0	5.18039e-06	0.00307968	1.40842e-05	8	16				
JADE1	79960	broad.mit.edu	37	4	129776938	129776938	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:129776938C>T	ENST00000226319.6	+	7	1130	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000413543.2_Silent_p.L284L|PHF17_ENST00000512960.1_Silent_p.L284L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGCTGTGCTCTGTGGATCCC	0.512																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(850-852)Ctg>Ttg									127.0	123.0	124.0					4																	129776938		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129776938C>T																												ENST00000226319.6:c.850C>T	4.37:g.129776938C>T						PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L|PHF17_ENST00000413543.2_Silent_p.L284L	p.L284L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			7	1130	+			284						Silent	SNP	ENST00000226319.6	37	c.850C>T	CCDS34062.1																																																																																				0.512	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	32	0	0	0	0.00307968	0	8	32				
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:131233667C>T	ENST00000434106.3	+	6	864	c.501C>T	c.(499-501)caC>caT	p.H167H	ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000393527.3_Silent_p.H143H|ODF2_ENST00000604420.1_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H|ODF2_ENST00000351030.3_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372814.3_Silent_p.H211H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(427-429)caC>caT		outer dense fiber of sperm tails 2							179.0	157.0	164.0					9																	131233667		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131233667C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.501C>T	9.37:g.131233667C>T						ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000535026.1_Intron	p.H143H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			8	1014	+			167					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.429C>T	CCDS56588.1																																																																																				0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			32	41	0	0	0	0.00209593	0	32	41				
ZRSR2	8233	broad.mit.edu	37	X	15809058	15809058	+	Splice_Site	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:15809058C>A	ENST00000307771.7	+	2	67	c.43C>A	c.(43-45)Cac>Aac	p.H15N	ZRSR2_ENST00000380308.3_Splice_Site_p.H15N|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	15					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCTTCCAGCCACAAAAAGTA	0.512			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.e2-1		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							64.0	59.0	61.0					X																	15809058		2203	4300	6503	SO:0001630	splice_region_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15809058C>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.42-1C>A	X.37:g.15809058C>A						ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice	p.H15_splice	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			2	67	+	Hepatocellular(33;0.183)		15					Q14D69	Splice_Site	SNP	ENST00000307771.7	37	c.41_splice	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269843	0.40095	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	T	0.01295	5.04	5.03	4.16	0.48862	.	0.114518	0.64402	D	0.000016	T	0.02418	0.0074	M	0.77103	2.36	0.27493	N	0.952219	B	0.33694	0.421	B	0.26969	0.075	T	0.26189	-1.0110	10	0.62326	D	0.03	.	8.866	0.35286	0.0:0.8928:0.0:0.1072	.	15	Q15696	U2AFM_HUMAN	N	15	ENSP00000369664:H15N	ENSP00000303015:H15N	H	+	1	0	ZRSR2	15718979	1.000000	0.71417	0.988000	0.46212	0.866000	0.49608	3.689000	0.54706	1.039000	0.40074	0.436000	0.28706	CAC		0.512	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	Missense_Mutation	12	18	1	0	3.07112e-06	0.000978159	8.41535e-06	12	18				
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	rs141328314	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:120050217G>A	ENST00000369413.3	+	2	263	c.118G>A	c.(118-120)Gga>Aga	p.G40R	HSD3B1_ENST00000235547.6_Missense_Mutation_p.G42R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.G40I(1)|p.G40R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CAAGGCCTTCGGACCAGAATT	0.507																																						ENST00000235547.6																			2	Substitution - Missense(2)	p.G40I(1)|p.G40R(1)	lung(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(124-126)Gga>Aga		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)	A	ARG/GLY	1,4405	826.1+/-416.6	0,1,2202	174.0	148.0	157.0		118	1.7	1.0	1	dbSNP_134	157	2,8598	819.2+/-406.8	0,2,4298	no	missense	HSD3B1	NM_000862.2	125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	40/374	120050217	3,13003	2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120050217G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.118G>A	1.37:g.120050217G>A	ENSP00000358421:p.Gly40Arg					HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R	p.G42R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	2	263	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	40					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.124G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.287849	0.00248	2.27E-4	2.33E-4	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	2.91	1.7	0.24286	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.306760	0.30347	N	0.009836	T	0.22666	0.0547	N	0.00885	-1.115	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42783	-0.9431	10	0.09590	T	0.72	-10.7608	3.0698	0.06226	0.6014:0.2521:0.1465:0.0	.	42;40	Q5TDG2;P14060	.;3BHS1_HUMAN	R	40;40;42;40	ENSP00000435999:G40R;ENSP00000358421:G40R;ENSP00000235547:G42R;ENSP00000432268:G40R	ENSP00000235547:G42R	G	+	1	0	HSD3B1	119851740	0.519000	0.26242	0.967000	0.41034	0.224000	0.24922	0.671000	0.25172	-0.146000	0.11274	-0.817000	0.03123	GGA		0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		23	71	0	0	0	0.00395357	0	23	71				
HTR1F	3355	broad.mit.edu	37	3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:88040372C>T	ENST00000319595.4	+	1	527	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTATGCCTCCTCTATTCTGG	0.408																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(472-474)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						68.0	66.0	67.0					3																	88040372		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040372C>T	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.473C>T	3.37:g.88040372C>T	ENSP00000322924:p.Pro158Leu						p.P158L	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	527	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	158						Missense_Mutation	SNP	ENST00000319595.4	37	c.473C>T	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010893	0.75046	.	.	ENSG00000179097	ENST00000319595	T	0.38240	1.15	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60219	-0.7306	10	0.62326	D	0.03	.	16.1173	0.81314	0.0:1.0:0.0:0.0	.	158	P30939	5HT1F_HUMAN	L	158	ENSP00000322924:P158L	ENSP00000322924:P158L	P	+	2	0	HTR1F	88123062	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.783000	0.85696	2.410000	0.81850	0.460000	0.39030	CCT		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		23	23	0	0	0	0.00188189	0	23	23				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	49	0	0	0	6.4e-05	0	3	49				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	57	0	0	0	6.4e-05	0	3	57				
IGHM	3507	broad.mit.edu	37	14	106320515	106320515	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:106320515G>A	ENST00000390559.2	-	0	1294							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTTACCGGTGGACTTGTCCAC	0.642																																						ENST00000390559.2																			0																				107.0	115.0	112.0					14																	106320515		2109	4196	6305			3507							g.chr14:106320515G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320515G>A														0	1294	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.642	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		6	94	0	0	0	0.00198382	0	6	94				
BCAS3	54828	broad.mit.edu	37	17	59115269	59115269	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:59115269A>G	ENST00000390652.5	+	19	1858	c.1827A>G	c.(1825-1827)gtA>gtG	p.V609V	BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588874.1_Silent_p.V365V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Silent_p.V594V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1780-1782)gtA>gtG		breast carcinoma amplified sequence 3							260.0	268.0	266.0					17																	59115269		2042	4193	6235	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59115269A>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1827A>G	17.37:g.59115269A>G						BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000408905.3_Silent_p.V594V|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588874.1_Silent_p.V365V	p.V594V			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		18	1850	+			609						Silent	SNP	ENST00000390652.5	37	c.1782A>G	CCDS45749.1																																																																																				0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		4	267	0	0	0	0.00024832	0	4	267				
OR51B2	79345	broad.mit.edu	37	11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5345445G>A	ENST00000328813.2	-	1	137	c.83C>T	c.(82-84)cCc>cTc	p.P28L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P28L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000328813.2																			1	Substitution - Missense(1)	p.P28L(1)	biliary_tract(1)	NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(82-84)cCc>cTc		olfactory receptor, family 51, subfamily B, member 2							89.0	79.0	83.0					11																	5345445		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345445G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.83C>T	11.37:g.5345445G>A	ENSP00000327540:p.Pro28Leu		OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	625	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.P28L	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	137	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	28					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.83C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499427	0.44455	.	.	ENSG00000184881	ENST00000328813	T	0.00325	8.1	4.28	4.28	0.50868	.	0.251816	0.20797	U	0.085505	T	0.00210	0.0006	L	0.28504	0.86	0.43065	D	0.994696	B	0.20368	0.044	B	0.22386	0.039	T	0.81406	-0.0947	10	0.44086	T	0.13	.	15.6397	0.76989	0.0:0.0:1.0:0.0	.	28	Q9Y5P1	O51B2_HUMAN	L	28	ENSP00000327540:P28L	ENSP00000327540:P28L	P	-	2	0	OR51B2	5302021	0.059000	0.20769	0.994000	0.49952	0.958000	0.62258	0.711000	0.25764	2.251000	0.74343	0.644000	0.83932	CCC		0.502	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		12	37	0	0	0	0.00136819	0	12	37				
MCM3AP	8888	broad.mit.edu	37	21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:47660924T>C	ENST00000397708.1	-	27	5688	c.5434A>G	c.(5434-5436)Ata>Gta	p.I1812V	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1812					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5434-5436)Ata>Gta		minichromosome maintenance complex component 3 associated protein							142.0	128.0	133.0					21																	47660924		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660924T>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5434A>G	21.37:g.47660924T>C	ENSP00000380820:p.Ile1812Val					MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA	p.I1812V			O60318	MCM3A_HUMAN			27	5688	-	Breast(49;0.112)		1812					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5434A>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	7.369	0.626407	0.14257	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03301	3.98;3.98	5.58	1.95	0.26073	.	1.254190	0.05162	N	0.497947	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.15484	0.001;0.013	T	0.49163	-0.8968	10	0.10636	T	0.68	-0.2991	7.5642	0.27868	0.0:0.2238:0.0:0.7762	.	1812;307	O60318;B3KT88	MCM3A_HUMAN;.	V	1812;1812;307	ENSP00000380820:I1812V;ENSP00000291688:I1812V	ENSP00000291688:I1812V	I	-	1	0	MCM3AP	46485352	0.258000	0.24033	0.211000	0.23655	0.334000	0.28698	0.410000	0.21098	0.093000	0.17368	-0.263000	0.10527	ATA		0.388	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		46	86	0	0	0	0.00361006	0	46	86				
SLC22A14	9389	broad.mit.edu	37	3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:38347632C>T	ENST00000273173.4	+	1	206	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C|RNU6-235P_ENST00000362644.1_RNA	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.R39C(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537													C|||	11	0.00219649	0.0	0.0	5008	,	,		22777	0.0		0.0	False		,,,				2504	0.0112					ENST00000273173.4																			1	Substitution - Missense(1)	p.R39C(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(115-117)Cgc>Tgc		solute carrier family 22, member 14		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	186.0	165.0	172.0		115	0.4	0.0	3	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC22A14	NM_004803.3	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	39/595	38347632	2,13004	2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347632C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.115C>T	3.37:g.38347632C>T	ENSP00000273173:p.Arg39Cys					SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C	p.R39C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	1	206	+			39					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.115C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340971	0.41498	2.27E-4	1.16E-4	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36699	1.24;1.24	4.33	0.366	0.16136	.	6.492390	0.00622	N	0.000455	T	0.38453	0.1041	M	0.67953	2.075	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.30504	-0.9976	10	0.87932	D	0	.	4.6289	0.12491	0.1632:0.5766:0.0:0.2602	.	39	Q9Y267	S22AE_HUMAN	C	39	ENSP00000396283:R39C;ENSP00000273173:R39C	ENSP00000273173:R39C	R	+	1	0	SLC22A14	38322636	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.251000	0.18257	0.049000	0.15920	-0.140000	0.14226	CGC		0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		10	80	0	0	0	0.000673444	0	10	80				
CPNE4	131034	broad.mit.edu	37	3	131254048	131254048	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:131254048T>C	ENST00000512055.1	-	20	3791	c.1665A>G	c.(1663-1665)ctA>ctG	p.L555L	CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000429747.1_Silent_p.L555L|CPNE4_ENST00000503204.1_5'UTR			Q96A23	CPNE4_HUMAN	copine IV	555						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCATGGTGCTAGTGTTCTGG	0.368																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1663-1665)ctA>ctG		copine IV							135.0	121.0	126.0					3																	131254048		2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131254048T>C	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1665A>G	3.37:g.131254048T>C						CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L	p.L555L			Q96A23	CPNE4_HUMAN			20	3791	-			555					D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.1665A>G	CCDS3072.1																																																																																				0.368	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		16	47	0	0	0	0.000566183	0	16	47				
MYH2	4620	broad.mit.edu	37	17	10440764	10440764	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:10440764G>C	ENST00000245503.5	-	16	2067	c.1683C>G	c.(1681-1683)ggC>ggG	p.G561G	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.G561G|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	561	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAGACTTGCCCAGGTGCT	0.517																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1681-1683)ggC>ggG		myosin, heavy chain 2, skeletal muscle, adult							121.0	120.0	120.0					17																	10440764		2203	4298	6501	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440764G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1683C>G	17.37:g.10440764G>C						CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.G561G	p.G561G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2067	-			561			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1683C>G	CCDS11156.1																																																																																				0.517	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	127	0	0	0	0.00448238	0	7	127				
DACT1	51339	broad.mit.edu	37	14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:59112758G>A	ENST00000335867.4	+	4	1441	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	DACT1_ENST00000395153.3_Missense_Mutation_p.E436K|DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	473					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGACAGGGGAGTCCCCTAA	0.612																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1306-1308)Gag>Aag		dishevelled-binding antagonist of beta-catenin 1							53.0	62.0	59.0					14																	59112758		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112758G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1417G>A	14.37:g.59112758G>A	ENSP00000337439:p.Glu473Lys					DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K|DACT1_ENST00000335867.4_Missense_Mutation_p.E473K	p.E436K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1453	+			473					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1306G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	8.717	0.913484	0.17907	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.60424	0.92;0.92;0.19;0.19;0.92	5.35	5.35	0.76521	.	0.268407	0.37053	N	0.002280	T	0.46698	0.1406	L	0.49126	1.545	0.31522	N	0.662288	P;P	0.43352	0.804;0.804	B;B	0.39152	0.292;0.292	T	0.51293	-0.8724	10	0.07175	T	0.84	-23.8803	12.417	0.55500	0.0772:0.0:0.9228:0.0	.	436;473	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	192;192;436;473;192	ENSP00000451598:E192K;ENSP00000378581:E192K;ENSP00000378582:E436K;ENSP00000337439:E473K;ENSP00000442850:E192K	ENSP00000337439:E473K	E	+	1	0	DACT1	58182511	1.000000	0.71417	0.320000	0.25306	0.035000	0.12851	4.442000	0.59988	2.519000	0.84933	0.563000	0.77884	GAG		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		26	68	0	0	0	0.00395357	0	26	68				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	36	0	0	0	0.000602214	0	5	36				
IL26	55801	broad.mit.edu	37	12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:68595690T>G	ENST00000229134.4	-	5	515	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	151					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(451-453)Aaa>Caa		interleukin 26							57.0	61.0	60.0					12																	68595690		2199	4294	6493	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68595690T>G	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.451A>C	12.37:g.68595690T>G	ENSP00000229134:p.Lys151Gln					IFNG-AS1_ENST00000536914.1_RNA	p.K151Q	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	5	515	-			151						Missense_Mutation	SNP	ENST00000229134.4	37	c.451A>C	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731666	0.48939	.	.	ENSG00000111536	ENST00000229134	D	0.88431	-2.38	5.39	4.21	0.49690	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000017	D	0.91683	0.7371	M	0.63843	1.955	0.27531	N	0.951101	D	0.58620	0.983	D	0.66847	0.947	D	0.85020	0.0911	9	.	.	.	-18.233	8.5715	0.33572	0.0:0.0895:0.0:0.9105	.	151	Q9NPH9	IL26_HUMAN	Q	151	ENSP00000229134:K151Q	.	K	-	1	0	IL26	66881957	1.000000	0.71417	0.952000	0.39060	0.384000	0.30261	2.694000	0.47035	0.952000	0.37798	0.460000	0.39030	AAA		0.274	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		9	37	0	0	0	0.000442599	0	9	37				
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A	rs550777059		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:95645720C>A	ENST00000436874.1	+	2	146	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(40-42)tCt>tAt		vezatin, adherens junctions transmembrane protein							138.0	133.0	135.0					12																	95645720		1838	4069	5907	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645720C>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.41C>A	12.37:g.95645720C>A	ENSP00000410083:p.Ser14Tyr					VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR	p.S14Y	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	146	+			14					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.41C>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186506	0.78789	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000397796	T;T;T	0.64260	1.47;0.14;-0.09	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000001	T	0.78610	0.4310	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.79783	-0.1658	10	0.87932	D	0	-33.6395	17.7302	0.88375	0.0:1.0:0.0:0.0	.	14;14	C9J154;Q9HBM0	.;VEZA_HUMAN	Y	14;14;33;14	ENSP00000410083:S14Y;ENSP00000449591:S14Y;ENSP00000449701:S33Y	ENSP00000380898:S14Y	S	+	2	0	VEZT	94169851	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.719000	0.68462	2.721000	0.93114	0.655000	0.94253	TCT		0.363	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		19	58	1	0	1.01871e-10	0.00121646	2.85897e-10	19	58				
SERBP1	26135	broad.mit.edu	37	1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:67889975T>C	ENST00000370995.2	-	5	811	c.726A>G	c.(724-726)atA>atG	p.I242M	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	242					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						AATTATAAGATATTTGTTTCT	0.363																																						ENST00000370995.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(724-726)atA>atG		SERPINE1 mRNA binding protein 1							82.0	84.0	83.0					1																	67889975		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67889975T>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.726A>G	1.37:g.67889975T>C	ENSP00000360034:p.Ile242Met					SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000370994.4_Intron	p.I242M			Q8NC51	PAIRB_HUMAN			5	811	-			242					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.726A>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765152	0.31228	.	.	ENSG00000142864	ENST00000370995;ENST00000370990	.	.	.	5.33	1.9	0.25705	Hyaluronan/mRNA-binding protein (1);	0.685804	0.14758	N	0.300178	T	0.07683	0.0193	N	0.08118	0	0.25968	N	0.98253	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.36237	-0.9756	9	0.33141	T	0.24	-11.2844	8.0241	0.30427	0.0:0.4228:0.0:0.5772	.	299;242	D3DQ70;Q8NC51	.;PAIRB_HUMAN	M	242;236	.	ENSP00000360029:I236M	I	-	3	3	SERBP1	67662563	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.498000	0.22530	0.058000	0.16222	0.455000	0.32223	ATA		0.363	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		21	46	0	0	0	0.00188189	0	21	46				
SMAD1	4086	broad.mit.edu	37	4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:146435852G>A	ENST00000515385.1	+	2	629	c.87G>A	c.(85-87)tgG>tgA	p.W29*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*			Q15797	SMAD1_HUMAN	SMAD family member 1	29	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(85-87)tgG>tgA		SMAD family member 1							89.0	85.0	86.0					4																	146435852		2203	4300	6503	SO:0001587	stop_gained	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146435852G>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.87G>A	4.37:g.146435852G>A	ENSP00000426568:p.Trp29*					SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR	p.W29*			Q15797	SMAD1_HUMAN			2	629	+	all_hematologic(180;0.151)		29			MH1.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Nonsense_Mutation	SNP	ENST00000515385.1	37	c.87G>A	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623273	0.96660	.	.	ENSG00000170365	ENST00000514778;ENST00000507594;ENST00000514831;ENST00000302085;ENST00000512019;ENST00000503324;ENST00000394092;ENST00000515385	.	.	.	5.04	5.04	0.67666	.	0.052903	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7439	0.91785	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000305769:W29X	W	+	3	0	SMAD1	146655302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.494000	0.84150	0.655000	0.94253	TGG		0.443	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		4	49	0	0	0	0.000602214	0	4	49				
ARNT	405	broad.mit.edu	37	1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:150795676T>C	ENST00000358595.5	-	14	1588	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.408			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1387-1389)aAt>aGt		aryl hydrocarbon receptor nuclear translocator							119.0	114.0	116.0					1																	150795676		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150795676T>C	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1388A>G	1.37:g.150795676T>C	ENSP00000351407:p.Asn463Ser					ARNT_ENST00000515192.1_Missense_Mutation_p.N449S|ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S	p.N463S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		14	1588	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		463			PAC.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1388A>G	CCDS970.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198496	0.38806	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.63	0.855	0.19013	.	0.087399	0.85682	N	0.000000	T	0.04861	0.0131	L	0.32530	0.975	0.54753	D	0.999989	B;B;B;B;B;B	0.23735	0.09;0.007;0.001;0.0;0.003;0.007	B;B;B;B;B;B	0.21151	0.033;0.02;0.009;0.009;0.032;0.02	T	0.23476	-1.0187	10	0.38643	T	0.18	.	10.445	0.44488	0.0:0.2127:0.0:0.7873	.	447;448;463;449;448;463	B4E3L5;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;ARNT_HUMAN	S	463;463;449;447;448	ENSP00000351407:N463S;ENSP00000346372:N463S;ENSP00000423851:N449S;ENSP00000427571:N448S	ENSP00000346372:N463S	N	-	2	0	ARNT	149062300	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	2.834000	0.48167	0.171000	0.19730	0.482000	0.46254	AAT		0.408	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			4	52	0	0	0	0.000602214	0	4	52				
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CACTGAGCAACAACTGCCATG	0.488																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065601C>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065601C>G								NR_038174.2						0	107	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.488	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	57	0	0	0	0.000602214	0	4	57				
SPRYD3	84926	broad.mit.edu	37	12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53460181C>T	ENST00000301463.4	-	10	1197	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttccccttcctGGTGCAGG	0.572											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1111-1113)Gaa>Aaa		SPRY domain containing 3							199.0	152.0	168.0					12																	53460181		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460181C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1111G>A	12.37:g.53460181C>T	ENSP00000301463:p.Glu371Lys		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	p.E371K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			10	1197	-			371			Glu-rich.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1111G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999779	0.74818	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.123644	0.52532	D	0.000066	T	0.43942	0.1270	N	0.22421	0.69	0.51482	D	0.999924	B	0.24186	0.099	B	0.21917	0.037	T	0.30149	-0.9988	9	0.23891	T	0.37	.	15.8978	0.79346	0.0:1.0:0.0:0.0	.	371	Q8NCJ5	SPRY3_HUMAN	K	371;408	.	ENSP00000301463:E371K	E	-	1	0	SPRYD3	51746448	0.977000	0.34250	1.000000	0.80357	0.989000	0.77384	4.630000	0.61297	2.419000	0.82065	0.651000	0.88453	GAA		0.572	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		10	54	0	0	0	0.000442599	0	10	54				
ZNF728	388523	broad.mit.edu	37	19	23159583	23159583	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:23159583A>T	ENST00000594710.1	-	4	701	c.556T>A	c.(556-558)Tca>Aca	p.S186T		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	186					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GATAGGTGTGAAAGCATGCAA	0.318																																						ENST00000594710.1																			0											c.(556-558)Tca>Aca		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159583A>T	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.556T>A	19.37:g.23159583A>T	ENSP00000471593:p.Ser186Thr						p.S186T	NM_001267716.1	NP_001254645.1					4	701	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.556T>A	CCDS59370.1																																																																																				0.318	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		10	31	0	0	0	0.000442599	0	10	31				
LGR6	59352	broad.mit.edu	37	1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:202249913T>G	ENST00000367278.3	+	6	738	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	217					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCAGGCATTTGCATAACAA	0.562																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(649-651)Ttg>Gtg		leucine-rich repeat containing G protein-coupled receptor 6							140.0	122.0	128.0					1																	202249913		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202249913T>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.649T>G	1.37:g.202249913T>G	ENSP00000356247:p.Leu217Val					LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	p.L217V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			6	738	+			217					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.649T>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009115	0.75046	.	.	ENSG00000133067	ENST00000367278;ENST00000255432	T;T	0.74842	-0.88;-0.88	4.87	3.95	0.45737	.	0.000000	0.64402	D	0.000001	D	0.85986	0.5825	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87033	0.2136	10	0.87932	D	0	.	11.0535	0.47905	0.0:0.9065:0.0:0.0935	.	165;217	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	V	217;165	ENSP00000356247:L217V;ENSP00000255432:L165V	ENSP00000255432:L165V	L	+	1	2	LGR6	200516536	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.215000	0.58534	1.025000	0.39708	-0.366000	0.07423	TTG		0.562	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		30	64	0	0	0	0.00178596	0	30	64				
XCR1	2829	broad.mit.edu	37	3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:46062445A>G	ENST00000309285.3	-	2	1351	c.995T>C	c.(994-996)tTc>tCc	p.F332S	XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	332					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(994-996)tTc>tCc		chemokine (C motif) receptor 1							18.0	18.0	18.0					3																	46062445		2202	4300	6502	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062445A>G		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.995T>C	3.37:g.46062445A>G	ENSP00000310405:p.Phe332Ser					XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1351	-			332						Missense_Mutation	SNP	ENST00000309285.3	37	c.995T>C	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028279	0.35797	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.67171	-0.25;-0.25	5.73	5.73	0.89815	.	0.265266	0.33127	N	0.005244	T	0.48502	0.1503	N	0.08118	0	0.30426	N	0.777625	P	0.35272	0.493	B	0.32928	0.155	T	0.58825	-0.7568	10	0.66056	D	0.02	.	16.0173	0.80450	1.0:0.0:0.0:0.0	.	332	P46094	XCR1_HUMAN	S	332	ENSP00000310405:F332S;ENSP00000438119:F332S	ENSP00000310405:F332S	F	-	2	0	XCR1	46037449	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	2.522000	0.45572	2.181000	0.69327	0.533000	0.62120	TTC		0.642	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			12	5	0	0	0	0.00185496	0	12	5				
C1orf168	199920	broad.mit.edu	37	1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:57257788C>T	ENST00000343433.6	-	2	778	c.698G>A	c.(697-699)aGc>aAc	p.S233N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	233										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTTGCCGGGCTCCTCTCAGG	0.532																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(697-699)aGc>aAc		chromosome 1 open reading frame 168							61.0	68.0	66.0					1																	57257788		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57257788C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.698G>A	1.37:g.57257788C>T	ENSP00000345972:p.Ser233Asn					C1orf168_ENST00000484327.1_5'UTR	p.S233N	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			2	778	-			233					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.698G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653504	0.29425	.	.	ENSG00000187889	ENST00000343433	T	0.35973	1.28	3.91	-0.382	0.12481	.	0.710705	0.13298	N	0.398444	T	0.20700	0.0498	L	0.34521	1.04	0.09310	N	1	B;P	0.35872	0.077;0.525	B;B	0.30495	0.025;0.116	T	0.11203	-1.0597	10	0.54805	T	0.06	-0.4363	4.592	0.12312	0.0:0.4414:0.3503:0.2082	.	233;233	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	N	233	ENSP00000345972:S233N	ENSP00000345972:S233N	S	-	2	0	C1orf168	57030376	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.589000	0.05767	-0.044000	0.13491	0.563000	0.77884	AGC		0.532	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		38	80	0	0	0	0.000953801	0	38	80				
DMRT3	58524	broad.mit.edu	37	9	990054	990054	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:990054A>G	ENST00000190165.2	+	2	506	c.468A>G	c.(466-468)gaA>gaG	p.E156E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	156					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(466-468)gaA>gaG		doublesex and mab-3 related transcription factor 3							61.0	66.0	65.0					9																	990054		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990054A>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.468A>G	9.37:g.990054A>G							p.E156E	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	506	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	156					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.468A>G	CCDS6443.1																																																																																				0.478	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		10	79	0	0	0	0.000978159	0	10	79				
LOC101927905	101927905	broad.mit.edu	37	12	8388253	8388253	+	lincRNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:8388253G>A	ENST00000304751.9	+	0	243				FAM86FP_ENST00000427893.2_RNA																							AGAGGGTGGCGTCCCATGTGA	0.622																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8388253G>A																													12.37:g.8388253G>A						FAM86FP_ENST00000427893.2_RNA								0	243	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.622	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			9	28	0	0	0	0.000442599	0	9	28				
DONSON	29980	broad.mit.edu	37	21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:34958441C>T	ENST00000303071.5	-	3	515	c.449G>A	c.(448-450)aGt>aAt	p.S150N	DONSON_ENST00000453626.1_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAACTCAGTACTTTTTGAGGA	0.398											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(448-450)aGt>aAt		downstream neighbor of SON							73.0	64.0	67.0					21																	34958441		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34958441C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.449G>A	21.37:g.34958441C>T	ENSP00000307143:p.Ser150Asn		OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N	p.S150N			Q9NYP3	DONS_HUMAN			3	453	-			150					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.449G>A	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.923|2.923	-0.222653|-0.222653	0.06061|0.06061	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000437395	.|.	.|.	.|.	5.56|5.56	2.8|2.8	0.32819|0.32819	.|.	0.546198|.	0.23204|.	N|.	0.050746|.	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19331|.	0.011;0.035;0.011|.	B;B;B|.	0.18561|.	0.015;0.022;0.015|.	T|T	0.22800|0.22800	-1.0206|-1.0206	9|5	0.35671|.	T|.	0.21|.	-0.2123|-0.2123	8.5991|8.5991	0.33734|0.33734	0.1111:0.6953:0.0:0.1936|0.1111:0.6953:0.0:0.1936	.|.	150;150;150|.	F8W8A5;C9J4K5;Q9NYP3|.	.;.;DONS_HUMAN|.	N|I	150|121	.|.	ENSP00000307143:S150N|.	S|V	-|-	2|1	0|0	DONSON|DONSON	33880311|33880311	0.003000|0.003000	0.15002|0.15002	0.046000|0.046000	0.18839|0.18839	0.040000|0.040000	0.13550|0.13550	0.826000|0.826000	0.27407|0.27407	0.066000|0.066000	0.16515|0.16515	-2.325000|-2.325000	0.00251|0.00251	AGT|GTA		0.398	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		9	39	0	0	0	0.00448238	0	9	39				
AMY2B	280	broad.mit.edu	37	1	104115755	104115755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:104115755C>T	ENST00000361355.4	+	5	1002	c.386C>T	c.(385-387)aCc>aTc	p.T129I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	129					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAAGCAGTACCTGTGGAAGT	0.403																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(385-387)aCc>aTc		amylase, alpha 2B (pancreatic)							309.0	319.0	316.0					1																	104115755		2202	4285	6487	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115755C>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.386C>T	1.37:g.104115755C>T	ENSP00000354610:p.Thr129Ile					AMY2B_ENST00000491397.1_3'UTR	p.T129I	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	1002	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	129					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.386C>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666611	0.47677	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	4.58	3.67	0.42095	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.365632	0.30809	N	0.008835	D	0.97564	0.9202	M	0.91717	3.235	0.44789	D	0.997797	P	0.35507	0.506	B	0.40101	0.319	D	0.97553	1.0093	10	0.87932	D	0	.	12.4217	0.55524	0.0:0.9182:0.0:0.0818	.	129	P19961	AMY2B_HUMAN	I	129	ENSP00000354610:T129I	ENSP00000354610:T129I	T	+	2	0	AMY2B	103917278	0.974000	0.33945	0.974000	0.42286	0.714000	0.41099	4.548000	0.60718	0.929000	0.37192	0.644000	0.83932	ACC		0.403	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		117	411	0	0	0	0.00361006	0	117	411				
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:43777690G>A	ENST00000389420.3	-	30	4542	c.4543C>T	c.(4543-4545)Cag>Tag	p.Q1515*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507																																						ENST00000389420.3																			1	Substitution - Nonsense(1)	p.Q1515*(1)	large_intestine(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4543-4545)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 20							158.0	125.0	136.0					12																	43777690		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777690G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4543C>T	12.37:g.43777690G>A	ENSP00000374071:p.Gln1515*						p.Q1515*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4542	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1515			TSP type-1 12.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.4543C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	43	9.881666	0.99286	.	.	ENSG00000173157	ENST00000389420	.	.	.	4.25	-0.0478	0.13841	.	1.405700	0.04843	N	0.440846	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.073	0.09891	0.073:0.2605:0.3982:0.2683	.	.	.	.	X	1515	.	ENSP00000374071:Q1515X	Q	-	1	0	ADAMTS20	42063957	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	0.491000	0.22419	-0.003000	0.14444	0.655000	0.94253	CAG		0.507	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	64	0	0	0	0.00152264	0	22	64				
BRCA1	672	broad.mit.edu	37	17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:41228515C>T	ENST00000357654.3	-	13	4592	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000309486.4_Missense_Mutation_p.G1196R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1492					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3586-3588)Gga>Aga	Homologous recombination	breast cancer 1, early onset							121.0	113.0	116.0					17																	41228515		2202	4300	6502	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41228515C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4474G>A	17.37:g.41228515C>T	ENSP00000350283:p.Gly1492Arg	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R	p.G1196R	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	12	4613	-		Breast(137;0.000717)	1492					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3586G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518927	0.44866	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825	T;T;T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	4.97	3.95	0.45737	.	0.580298	0.15583	N	0.254816	T	0.53367	0.1792	L	0.34521	1.04	0.09310	N	0.999996	B;D;B;P;B;B;B;B	0.56035	0.113;0.974;0.064;0.623;0.064;0.113;0.017;0.18	B;P;B;B;B;B;B;B	0.50860	0.046;0.652;0.031;0.328;0.031;0.046;0.01;0.099	T	0.45160	-0.9280	10	0.87932	D	0	-1.8908	8.3164	0.32102	0.0:0.8846:0.0:0.1154	.	388;341;387;389;388;1514;1492;1492	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	R	1492;1513;350;309;1196;388;341;1514;1445;387;388;263;342;264	ENSP00000350283:G1492R;ENSP00000312236:G350R;ENSP00000338007:G309R;ENSP00000310938:G1196R;ENSP00000417148:G388R;ENSP00000377294:G341R;ENSP00000418775:G1445R;ENSP00000420412:G388R;ENSP00000419481:G263R;ENSP00000418819:G342R;ENSP00000418212:G264R	ENSP00000310938:G1196R	G	-	1	0	BRCA1	38482041	0.004000	0.15560	0.015000	0.15790	0.336000	0.28762	0.496000	0.22499	1.217000	0.43442	-0.367000	0.07326	GGA		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		17	49	0	0	0	0.000566183	0	17	49				
ACAD10	80724	broad.mit.edu	37	12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:112165809C>G	ENST00000313698.4	+	9	1260	c.1105C>G	c.(1105-1107)Ctc>Gtc	p.L369V	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000455480.2_Missense_Mutation_p.L400V	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	369						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCCCAGGTCTCATCTACAA	0.522																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1198-1200)Ctc>Gtc		acyl-CoA dehydrogenase family, member 10							191.0	177.0	182.0					12																	112165809		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165809C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1105C>G	12.37:g.112165809C>G	ENSP00000325137:p.Leu369Val					ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron	p.L400V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1375	+			369					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1198C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899752	0.33535	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.27720	1.65;1.65;1.65	5.3	2.34	0.29019	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.982353	0.08355	N	0.958574	T	0.18130	0.0435	N	0.04355	-0.22	0.09310	N	0.999996	B;B;B	0.16802	0.019;0.019;0.012	B;B;B	0.21917	0.037;0.031;0.032	T	0.34775	-0.9815	10	0.72032	D	0.01	.	11.3342	0.49494	0.1297:0.5939:0.2764:0.0	.	400;369;369	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	369;369;400;369;107;107	ENSP00000446959:L369V;ENSP00000389813:L400V;ENSP00000325137:L369V	ENSP00000325137:L369V	L	+	1	0	ACAD10	110650192	0.001000	0.12720	0.156000	0.22583	0.942000	0.58702	0.710000	0.25748	0.185000	0.20105	-0.321000	0.08615	CTC		0.522	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		45	141	0	0	0	0.00222228	0	45	141				
ZNF224	7767	broad.mit.edu	37	19	44610697	44610697	+	Silent	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:44610697T>A	ENST00000336976.6	+	6	638	c.384T>A	c.(382-384)ggT>ggA	p.G128G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(382-384)ggT>ggA		zinc finger protein 224							92.0	90.0	91.0					19																	44610697		2203	4300	6503	SO:0001819	synonymous_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610697T>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.384T>A	19.37:g.44610697T>A						AC084219.4_ENST00000592946.1_RNA	p.G128G	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	638	+		Prostate(69;0.0435)	128					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	c.384T>A	CCDS33046.1																																																																																				0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		10	63	0	0	0	0.000978159	0	10	63				
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Intron	SNP	A	A	G	rs111708284	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:71507261A>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627													.|||	1255	0.250599	0.4395	0.1816	5008	,	,		19360	0.1895		0.2167	False		,,,				2504	0.1421					ENST00000528685.1																			0				lung(1)	1						c.(358-360)Aca>Gca		family with sequence similarity 86, member C1		G	,,	1465,2935		182,1101,917	56.0	66.0	62.0		,,	-2.4	0.0	11	dbSNP_132	62	1133,7453		27,1079,3187	no	intron,intron,intron	FAM86C1	NM_001099653.1,NM_018172.2,NM_152563.2	,,	209,2180,4104	GG,GA,AA		13.1959,33.2955,20.0062	,,	,,	71507261	2598,10388	2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507261A>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+49A>G	11.37:g.71507261A>G						FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron	p.T120A			Q9NVL1	FA86C_HUMAN			3	358	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.358A>G	CCDS41686.1	364	0.16666666666666666	154	0.3130081300813008	49	0.13535911602209943	72	0.1258741258741259	89	0.11741424802110818	.	5.025	0.190229	0.09547	0.332955	0.131959	ENSG00000158483	ENST00000528685	T	0.18502	2.21	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	.	3.1938	0.06626	0.5083:0.0:0.3019:0.1898	.	.	.	.	A	120	ENSP00000436598:T120A	.	T	+	1	0	FAM86C1	71184909	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-2.374000	0.00599	-1.160000	0.01791	ACA		0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		3	97	0	0	0	6.4e-05	0	3	97				
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R|HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398																																						ENST00000296503.5																			1	Substitution - Missense(1)	p.K90R(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(268-270)aAg>aGg		high mobility group box 2							222.0	233.0	229.0					4																	174254247		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254247T>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.269A>G	4.37:g.174254247T>C	ENSP00000296503:p.Lys90Arg					HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R	p.K90R			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	1142	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	90					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.269A>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451760	0.43531	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.06	5.06	0.68205	High mobility group, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.96883	0.8982	M	0.81802	2.56	0.58432	D	0.99999	P	0.48350	0.909	D	0.65987	0.94	D	0.96930	0.9680	10	0.51188	T	0.08	.	14.1447	0.65344	0.0:0.0:0.0:1.0	.	90	P26583	HMGB2_HUMAN	R	90	ENSP00000296503:K90R;ENSP00000393448:K90R;ENSP00000404912:K90R;ENSP00000423001:K90R	ENSP00000296503:K90R	K	-	2	0	HMGB2	174490822	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.626000	0.83164	2.122000	0.65172	0.460000	0.39030	AAG		0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		3	166	0	0	0	6.4e-05	0	3	166				
NCR2	9436	broad.mit.edu	37	6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:41309847G>A	ENST00000373089.5	+	4	692	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NCR2_ENST00000373083.4_Missense_Mutation_p.V202I|NCR2_ENST00000373086.3_Missense_Mutation_p.V214I	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V202I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					ENST00000373083.4																			1	Substitution - Missense(1)	p.V202I(1)	endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(604-606)Gta>Ata		natural cytotoxicity triggering receptor 2		G	ILE/VAL,ILE/VAL,ILE/VAL	15,4391	23.3+/-48.9	0,15,2188	150.0	129.0	136.0		640,604,604	-4.5	0.0	6	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	NCR2	NM_001199509.1,NM_001199510.1,NM_004828.3	29,29,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	benign,benign,benign	214/271,202/259,202/277	41309847	16,12990	2203	4300	6503	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41309847G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.604G>A	6.37:g.41309847G>A	ENSP00000362181:p.Val202Ile					NCR2_ENST00000373086.3_Missense_Mutation_p.V214I|NCR2_ENST00000373089.5_Missense_Mutation_p.V202I	p.V202I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			4	826	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		202					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.604G>A	CCDS4855.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	5.109	0.205748	0.09704	0.003404	1.16E-4	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.14516	2.6;2.75;2.5	2.27	-4.46	0.03536	.	.	.	.	.	T	0.01489	0.0048	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31054	0.306;0.306;0.134	B;B;B	0.25884	0.064;0.064;0.029	T	0.43245	-0.9403	9	0.05525	T	0.97	.	8.3628	0.32369	0.1253:0.6563:0.2184:0.0	.	202;214;202	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	I	202;202;214	ENSP00000362175:V202I;ENSP00000362181:V202I;ENSP00000362178:V214I	ENSP00000362175:V202I	V	+	1	0	NCR2	41417825	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-2.617000	0.00881	-1.302000	0.02335	-0.499000	0.04595	GTA		0.622	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			41	93	0	0	0	0.00148497	0	41	93				
CBR4	84869	broad.mit.edu	37	4	169927999	169927999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927999G>T	ENST00000306193.3	-	3	475	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(307-309)Cag>Aag		carbonyl reductase 4							191.0	190.0	190.0					4																	169927999		2203	4300	6503	SO:0001583	missense	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169927999G>T	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.307C>A	4.37:g.169927999G>T	ENSP00000303525:p.Gln103Lys					CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K	p.Q103K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	475	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	103					Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	c.307C>A	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535502	0.64972	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.87334	-2.24;-2.24;-2.24	5.87	5.87	0.94306	NAD(P)-binding domain (1);	0.458965	0.23534	N	0.047155	D	0.84229	0.5426	L	0.41492	1.28	0.35503	D	0.799959	P	0.40250	0.709	B	0.39027	0.288	D	0.85499	0.1190	9	.	.	.	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	103	Q8N4T8	CBR4_HUMAN	K	103;103;100	ENSP00000303525:Q103K;ENSP00000427615:Q103K;ENSP00000423128:Q100K	.	Q	-	1	0	CBR4	170164574	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.191000	0.65110	2.775000	0.95449	0.650000	0.86243	CAG		0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		7	148	1	0	0.000274275	0.00448238	0.000734213	7	148				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	57	0	0	0	0.000602214	0	3	57				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	111	0	0	0	0.00024832	0	3	111				
HUS1B	135458	broad.mit.edu	37	6	656505	656505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:656505G>A	ENST00000380907.2	-	1	458	c.440C>T	c.(439-441)cCg>cTg	p.P147L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(439-441)cCg>cTg		HUS1 checkpoint homolog b (S. pombe)																																				SO:0001583	missense	135458							g.chr6:656505G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.440C>T	6.37:g.656505G>A	ENSP00000370293:p.Pro147Leu					EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.P147L	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	458	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	147					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.440C>T	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639979	0.29157	.	.	ENSG00000188996	ENST00000380907	T	0.11169	2.8	3.32	0.8	0.18672	.	0.323589	0.26086	U	0.026429	T	0.02012	0.0063	L	0.29908	0.895	0.25003	N	0.991455	B	0.02656	0.0	B	0.04013	0.001	T	0.42241	-0.9463	10	0.54805	T	0.06	.	3.8537	0.08967	0.2091:0.0:0.2292:0.5617	.	147	Q8NHY5	HUS1B_HUMAN	L	147	ENSP00000370293:P147L	ENSP00000370293:P147L	P	-	2	0	HUS1B	601505	0.531000	0.26338	0.002000	0.10522	0.002000	0.02628	0.890000	0.28295	0.055000	0.16094	-1.334000	0.01262	CCG		0.716	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		22	40	0	0	0	0.00229938	0	22	40				
FBXO8	26269	broad.mit.edu	37	4	175162340	175162340	+	Silent	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:175162340G>T	ENST00000393674.2	-	4	1348	c.486C>A	c.(484-486)atC>atA	p.I162I	FBXO8_ENST00000503293.1_Silent_p.I121I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	162	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(484-486)atC>atA		F-box protein 8							110.0	106.0	107.0					4																	175162340		2203	4297	6500	SO:0001819	synonymous_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175162340G>T	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.486C>A	4.37:g.175162340G>T						FBXO8_ENST00000503293.1_Silent_p.I121I	p.I162I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	4	1348	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	162			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.486C>A	CCDS3820.1																																																																																				0.323	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		17	37	1	0	6.49762e-13	0.00074312	1.85342e-12	17	37				
RBPJL	11317	broad.mit.edu	37	20	43945404	43945404	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43945404C>A	ENST00000343694.3	+	12	1431	c.1359C>A	c.(1357-1359)atC>atA	p.I453I	RBPJL_ENST00000372741.3_Missense_Mutation_p.H457N|RBPJL_ENST00000372743.1_Silent_p.I452I|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	453	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697																																						ENST00000372741.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1369-1371)Cac>Aac		recombination signal binding protein for immunoglobulin kappa J region-like							25.0	32.0	29.0					20																	43945404		2203	4300	6503	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945404C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1359C>A	20.37:g.43945404C>A						RBPJL_ENST00000343694.3_Silent_p.I453I|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I	p.H457N			Q9UBG7	RBPJL_HUMAN			12	1441	+		Myeloproliferative disorder(115;0.0122)	0			IPT/TIG.		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.1369C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720429	0.30503	.	.	ENSG00000124232	ENST00000372741	T	0.58210	0.35	5.62	3.36	0.38483	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.29785	0.107	T	0.50659	-0.8802	8	0.87932	D	0	-25.6645	10.8114	0.46549	0.0:0.8265:0.0:0.1735	.	457	Q5QPV1	.	N	457	ENSP00000361826:H457N	ENSP00000361826:H457N	H	+	1	0	RBPJL	43378818	1.000000	0.71417	0.975000	0.42487	0.738000	0.42128	1.805000	0.38883	1.393000	0.46605	0.549000	0.68633	CAC		0.697	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		30	39	1	0	2.36697e-06	0.00127121	6.53735e-06	30	39				
BMP8B	656	broad.mit.edu	37	1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:40228830C>A	ENST00000372827.3	-	6	1368	c.993G>T	c.(991-993)gaG>gaT	p.E331D	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	331					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(991-993)gaG>gaT		bone morphogenetic protein 8b							197.0	154.0	169.0					1																	40228830		2203	4300	6503	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228830C>A	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.993G>T	1.37:g.40228830C>A	ENSP00000361915:p.Glu331Asp					PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	p.E331D	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1368	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	331					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.993G>T	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437603	0.12104	.	.	ENSG00000116985	ENST00000372827	D	0.84370	-1.84	3.75	-0.657	0.11432	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.381500	0.25726	U	0.028711	T	0.61949	0.2388	N	0.20445	0.575	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.52881	-0.8516	10	0.02654	T	1	.	0.1481	0.00090	0.3025:0.2449:0.1488:0.3038	.	331	P34820	BMP8B_HUMAN	D	331	ENSP00000361915:E331D	ENSP00000361915:E331D	E	-	3	2	BMP8B	40001417	0.178000	0.23122	0.990000	0.47175	0.989000	0.77384	-0.547000	0.06055	-0.367000	0.08052	0.561000	0.74099	GAG		0.632	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		6	83	1	0	0.00198382	0.00198382	0.00526999	6	83				
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(193-195)tgC>tgT		platelet endothelial aggregation receptor 1							36.0	40.0	39.0					1																	156874633		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156874633C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.195C>T	1.37:g.156874633C>T						PEAR1_ENST00000292357.7_Silent_p.C65C	p.C65C			Q5VY43	PEAR1_HUMAN			4	420	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		65			EMI.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.195C>T	CCDS30892.1																																																																																				0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		12	54	0	0	0	0.00136819	0	12	54				
DCN	1634	broad.mit.edu	37	12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:91550936C>G	ENST00000052754.5	-	5	1069	c.568G>C	c.(568-570)Gga>Cga	p.G190R	DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTTTCAATTCCTGAGCTCTTC	0.413																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(568-570)Gga>Cga		decorin							130.0	126.0	127.0					12																	91550936		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91550936C>G	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.568G>C	12.37:g.91550936C>G	ENSP00000052754:p.Gly190Arg					DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron	p.G190R	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			5	1069	-			190					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.568G>C	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031206	0.93575	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.56941	0.43;3.61;0.43;0.43;3.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78104	-0.2334	10	0.87932	D	0	.	20.1197	0.97955	0.0:1.0:0.0:0.0	.	190;81	P07585;P07585-2	PGS2_HUMAN;.	R	190;81;190;190;81	ENSP00000052754:G190R;ENSP00000228329:G81R;ENSP00000376862:G190R;ENSP00000447654:G190R;ENSP00000413723:G81R	ENSP00000052754:G190R	G	-	1	0	DCN	90075067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.663000	0.68038	2.747000	0.94245	0.585000	0.79938	GGA		0.413	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		9	96	0	0	0	0.000673444	0	9	96				
IFNA13	3447	broad.mit.edu	37	9	21367983	21367983	+	Silent	SNP	C	C	T	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:21367983C>T	ENST00000449498.1	-	1	92	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	8					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547																																						ENST00000449498.1																			0				breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9						c.(25-27)ctG>ctA		interferon, alpha 13		C		2,4402	4.2+/-10.8	0,2,2200	84.0	92.0	89.0		27	1.5	0.0	9	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFNA13	NM_006900.3		0,4,6498	TT,TC,CC		0.0233,0.0454,0.0308		9/191	21367983	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	3447				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21367983C>T		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.27G>A	9.37:g.21367983C>T							p.L9L	NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	92	-			8					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Silent	SNP	ENST00000449498.1	37	c.27G>A	CCDS6505.2																																																																																				0.547	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		78	49	0	0	0	0.00361006	0	78	49				
CIB1	10519	broad.mit.edu	37	15	90771407	90771407	+	IGR	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:90771407A>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.Q682H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2044-2046)caA>caT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							91.0	95.0	94.0					15																	90771407		2126	4226	6352	SO:0001628	intergenic_variant	10509							g.chr15:90771407A>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771407A>T						SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H	p.Q682H	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2306	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2046A>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.338748	0.24253	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.22134	1.97;2.18;1.97	4.54	-7.88	0.01178	.	1.131140	0.06358	N	0.711118	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44380	0.834;0.472;0.472	B;B;B	0.43889	0.435;0.252;0.308	T	0.17806	-1.0357	10	0.46703	T	0.11	.	0.8003	0.01074	0.2824:0.2106:0.2998:0.2072	.	677;682;677	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	H	682;677;682	ENSP00000332204:Q682H;ENSP00000368417:Q677H;ENSP00000394720:Q682H	ENSP00000332204:Q682H	Q	+	3	2	SEMA4B	88572411	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.119000	0.03276	-1.241000	0.02526	0.459000	0.35465	CAA		0.607	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			5	17	0	0	0	0.00116845	0	5	17				
CBR4	84869	broad.mit.edu	37	4	169928000	169928000	+	Silent	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169928000A>T	ENST00000306193.3	-	3	474	c.306T>A	c.(304-306)tcT>tcA	p.S102S	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Silent_p.S102S|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	102					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TATGAAGCTGAGATACCATAT	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(304-306)tcT>tcA		carbonyl reductase 4							190.0	189.0	189.0					4																	169928000		2203	4300	6503	SO:0001819	synonymous_variant	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169928000A>T	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.306T>A	4.37:g.169928000A>T						CBR4_ENST00000504480.1_Silent_p.S102S	p.S102S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	474	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	102					Q8WTW8|Q96K93	Silent	SNP	ENST00000306193.3	37	c.306T>A	CCDS3812.1																																																																																				0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		8	146	0	0	0	0.00448238	0	8	146				
DNAH6	1768	broad.mit.edu	37	2	84784958	84784958	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:84784958A>G	ENST00000237449.6	+	10	1710	c.1702A>G	c.(1702-1704)Att>Gtt	p.I568V	DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V|DNAH6_ENST00000389394.3_Missense_Mutation_p.I568V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	568	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGCCCTTATATTAACAACAA	0.368																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1702-1704)Att>Gtt		dynein, axonemal, heavy chain 6							123.0	120.0	121.0					2																	84784958		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784958A>G	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1702A>G	2.37:g.84784958A>G	ENSP00000237449:p.Ile568Val					DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V|DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V	p.I568V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1839	+			568			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1702A>G	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794205	0.50102	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.96;1.85	5.09	3.93	0.45458	.	0.000000	0.52532	D	0.000070	T	0.44435	0.1293	M	0.70275	2.135	0.29461	N	0.857779	B;D	0.71674	0.138;0.998	B;D	0.67382	0.05;0.951	T	0.39121	-0.9629	10	0.33940	T	0.23	.	10.0803	0.42386	0.9187:0.0:0.0813:0.0	.	568;147	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	568	ENSP00000374045:I568V;ENSP00000381326:I568V;ENSP00000237449:I568V	ENSP00000237449:I568V	I	+	1	0	DNAH6	84638469	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	4.292000	0.59031	0.782000	0.33613	-0.378000	0.06908	ATT		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		21	79	0	0	0	0.00152264	0	21	79				
RIMS4	140730	broad.mit.edu	37	20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43386376T>A	ENST00000372851.3	-	4	452	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(385-387)cAg>cTg		regulating synaptic membrane exocytosis 4							129.0	104.0	112.0					20																	43386376		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386376T>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.386A>T	20.37:g.43386376T>A	ENSP00000361942:p.Gln129Leu					RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	p.Q129L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	452	-		Myeloproliferative disorder(115;0.0122)	129			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.386A>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468799	0.43839	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.78126	-1.15;-1.15	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.181464	0.49916	D	0.000133	T	0.75860	0.3907	M	0.68317	2.08	0.51233	D	0.999914	B;B	0.20550	0.046;0.005	B;B	0.15052	0.012;0.005	T	0.70956	-0.4731	10	0.24483	T	0.36	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	130;129	E1P613;Q9H426	.;RIMS4_HUMAN	L	129;130	ENSP00000361942:Q129L;ENSP00000439287:Q130L	ENSP00000361942:Q129L	Q	-	2	0	RIMS4	42819790	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.048000	0.64238	2.261000	0.74972	0.533000	0.62120	CAG		0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		73	68	0	0	0	0.00361006	0	73	68				
NOL3	8996	broad.mit.edu	37	16	67208838	67208838	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:67208838G>A	ENST00000568146.1	+	3	653	c.600G>A	c.(598-600)acG>acA	p.T200T	NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000432069.2_Missense_Mutation_p.E204K|KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	200					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.657																																						ENST00000432069.2																			0				ovary(1)	1						c.(610-612)Gag>Aag		nucleolar protein 3 (apoptosis repressor with CARD domain)							45.0	55.0	52.0					16																	67208838		2038	4211	6249	SO:0001819	synonymous_variant	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208838G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.600G>A	16.37:g.67208838G>A						NOL3_ENST00000568146.1_Silent_p.T200T|NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K	p.E204K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1182	+		Ovarian(137;0.192)	0					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.610G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	g	17.76	3.469712	0.63625	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.41065	1.01;1.01	4.71	3.49	0.39957	.	4.536870	0.00567	N	0.000285	T	0.25232	0.0613	.	.	.	0.09310	N	1	P	0.43352	0.804	B	0.22880	0.042	T	0.33394	-0.9870	9	0.66056	D	0.02	-37.0431	5.8717	0.18807	0.1795:0.0:0.8205:0.0	.	266	B4DFL0	.	K	204	ENSP00000399831:E204K;ENSP00000268605:E204K	ENSP00000268605:E204K	E	+	1	0	NOL3	65766339	0.155000	0.22806	0.035000	0.18076	0.249000	0.25844	2.528000	0.45624	2.324000	0.78689	0.457000	0.33378	GAG		0.657	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			22	36	0	0	0	0.00278032	0	22	36				
DCAF7	10238	broad.mit.edu	37	17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:61661062G>A	ENST00000310827.4	+	6	944	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	243					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CATGGCCATGGATGGAATGGA	0.537																																						ENST00000310827.4																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(727-729)Gat>Aat		DDB1 and CUL4 associated factor 7							70.0	71.0	71.0					17																	61661062		2105	4222	6327	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61661062G>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.727G>A	17.37:g.61661062G>A	ENSP00000308344:p.Asp243Asn					DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	p.D243N	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN			6	944	+			243					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.727G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.558713	0.86231	.	.	ENSG00000136485	ENST00000310827	T	0.71461	-0.57	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	.	.	.	0.80722	D	1	P	0.36438	0.553	B	0.40134	0.32	T	0.72994	-0.4122	9	0.52906	T	0.07	-24.3483	19.1338	0.93418	0.0:0.0:1.0:0.0	.	243	P61962	DCAF7_HUMAN	N	243	ENSP00000308344:D243N	ENSP00000308344:D243N	D	+	1	0	DCAF7	59014794	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GAT		0.537	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		13	38	0	0	0	0.00136819	0	13	38				
HLA-DMA	3108	broad.mit.edu	37	6	32917064	32917064	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:32917064C>T	ENST00000374843.4	-	4	850	c.765G>A	c.(763-765)cgG>cgA	p.R255R	HLA-DMA_ENST00000395303.3_Silent_p.R221R|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.R160R	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						AGCAAGGCTTCCGGAAGTAGA	0.567																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(763-765)cgG>cgA		major histocompatibility complex, class II, DM alpha							88.0	86.0	87.0					6																	32917064		2203	4300	6503	SO:0001819	synonymous_variant	3108					integral to membrane|MHC class II protein complex		g.chr6:32917064C>T		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.765G>A	6.37:g.32917064C>T						HLA-DMA_ENST00000395305.3_Silent_p.R160R|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.R221R|HLA-DMA_ENST00000464392.1_5'UTR	p.R255R	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			4	850	-			255					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.765G>A	CCDS4761.1																																																																																				0.567	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		20	44	0	0	0	0.00121646	0	20	44				
DNAH10	196385	broad.mit.edu	37	12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:124416356G>T	ENST00000409039.3	+	74	12761	c.12736G>T	c.(12736-12738)Gtg>Ttg	p.V4246L	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACAAGCTTGTGGTCCGGAT	0.542																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12736-12738)Gtg>Ttg		dynein, axonemal, heavy chain 10							116.0	114.0	114.0					12																	124416356		2007	4185	6192	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416356G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12736G>T	12.37:g.124416356G>T	ENSP00000386770:p.Val4246Leu					DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	p.V4246L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12761	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4246					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12736G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	6.830	0.522245	0.13066	.	.	ENSG00000197653	ENST00000409039	T	0.05786	3.39	5.46	2.17	0.27698	Dynein heavy chain (1);	0.722754	0.13106	N	0.413367	T	0.02193	0.0068	N	0.03891	-0.335	0.09310	N	0.99999	B	0.12630	0.006	B	0.15052	0.012	T	0.47560	-0.9108	10	0.07990	T	0.79	.	3.8992	0.09152	0.2084:0.4946:0.297:0.0	.	4246	Q8IVF4	DYH10_HUMAN	L	4246	ENSP00000386770:V4246L	ENSP00000386770:V4246L	V	+	1	0	DNAH10	122982309	0.099000	0.21834	0.002000	0.10522	0.233000	0.25261	1.661000	0.37408	0.647000	0.30713	-0.165000	0.13383	GTG		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	84	1	0	7.72975e-29	0.00283554	2.26046e-28	33	84				
PLXND1	23129	broad.mit.edu	37	3	129324754	129324754	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:129324754C>T	ENST00000324093.4	-	1	907	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PLXND1_ENST00000393239.1_Silent_p.L243L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCGCGTGTCCAGGGAGCGGA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(727-729)ctG>ctA		plexin D1							42.0	42.0	42.0					3																	129324754		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324754C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.729G>A	3.37:g.129324754C>T						PLXND1_ENST00000324093.4_Silent_p.L243L	p.L243L			Q9Y4D7	PLXD1_HUMAN			1	907	-			243			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.729G>A	CCDS33854.1																																																																																				0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		12	18	0	0	0	0.00185496	0	12	18				
CHST6	4166	broad.mit.edu	37	16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T	rs570082634|rs529839563	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:75513153C>T	ENST00000332272.4	-	3	753	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	192					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTTGAGCGCGGGGTCGCTG	0.692													C|||	3	0.000599042	0.0	0.0	5008	,	,		16564	0.003		0.0	False		,,,				2504	0.0					ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	GRCh37	CI065816	CHST6	I		c.(574-576)Gcg>Acg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							41.0	42.0	42.0					16																	75513153		2196	4298	6494	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513153C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.574G>A	16.37:g.75513153C>T	ENSP00000328983:p.Ala192Thr					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A192T	p.A192T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	753	-			192					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.574G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339919	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.81821	-1.54;-1.54	4.68	1.19	0.21007	Sulfotransferase domain (1);	0.253900	0.39020	N	0.001494	T	0.60038	0.2238	N	0.25647	0.755	0.09310	N	1	B	0.26577	0.153	B	0.23150	0.044	T	0.36553	-0.9743	10	0.21540	T	0.41	.	2.1057	0.03690	0.3356:0.4148:0.1408:0.1087	.	192	Q9GZX3	CHST6_HUMAN	T	192	ENSP00000328983:A192T;ENSP00000375079:A192T	ENSP00000328983:A192T	A	-	1	0	CHST6	74070654	0.213000	0.23551	0.066000	0.19879	0.678000	0.39670	1.325000	0.33724	0.378000	0.24764	-0.191000	0.12829	GCG		0.692	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		13	49	0	0	0	0.00185496	0	13	49				
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)ccT>ccC		TNF receptor-associated factor 5							114.0	103.0	107.0					1																	211534067		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534067T>C	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C						TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Silent_p.P189P	p.P189P	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	6	621	+			189					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.567T>C	CCDS1497.1																																																																																				0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		3	40	0	0	0	0.00024832	0	3	40				
GAS2L3	283431	broad.mit.edu	37	12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:101018469C>T	ENST00000539410.1	+	9	2272	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.P525L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAAACTGCACCGAAGTCAGCA	0.527																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1573-1575)cCg>cTg		growth arrest-specific 2 like 3							94.0	83.0	87.0					12																	101018469		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101018469C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1886C>T	12.37:g.101018469C>T	ENSP00000439672:p.Pro629Leu					GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L	p.P525L			Q86XJ1	GA2L3_HUMAN			10	2528	+			629					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1574C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678424	0.29783	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.71	-2.12	0.07165	.	1.522320	0.03567	N	0.228029	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.37526	-0.9702	10	0.59425	D	0.04	0.3116	0.8897	0.01252	0.2369:0.3159:0.2365:0.2106	.	629	Q86XJ1	GA2L3_HUMAN	L	629;629;525;629	ENSP00000266754:P629L;ENSP00000448955:P629L;ENSP00000442406:P525L;ENSP00000439672:P629L	ENSP00000266754:P629L	P	+	2	0	GAS2L3	99542600	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.431000	0.06965	0.049000	0.15920	0.591000	0.81541	CCG		0.527	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		20	56	0	0	0	0.00121646	0	20	56				
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2152-2154)Ggg>Agg		transient receptor potential cation channel, subfamily V, member 6							78.0	77.0	77.0					7																	142569486		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569486C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2152G>A	7.37:g.142569486C>T	ENSP00000352358:p.Gly718Arg						p.G718R	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			15	2397	-	Melanoma(164;0.059)		718					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2152G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917637	0.17982	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.56941	0.43	5.02	2.04	0.26737	.	0.953396	0.08758	N	0.898093	T	0.52191	0.1719	M	0.66939	2.045	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.46541	-0.9184	10	0.51188	T	0.08	-3.9733	11.4605	0.50208	0.4745:0.5255:0.0:0.0	.	718	Q9H1D0	TRPV6_HUMAN	R	718;550	ENSP00000352358:G718R	ENSP00000310825:G550R	G	-	1	0	TRPV6	142279608	0.001000	0.12720	0.025000	0.17156	0.302000	0.27658	1.177000	0.31969	0.090000	0.17273	-0.310000	0.09108	GGG		0.527	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		26	76	0	0	0	0.000878237	0	26	76				
CNTRL	11064	broad.mit.edu	37	9	123904513	123904513	+	Silent	SNP	A	A	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:123904513A>C	ENST00000373855.1	+	19	3096	c.2836A>C	c.(2836-2838)Aga>Cga	p.R946R	CNTRL_ENST00000373850.1_Silent_p.R394R|CNTRL_ENST00000238341.5_Silent_p.R946R|CNTRL_ENST00000373847.1_Silent_p.R394R			Q7Z7A1	CNTRL_HUMAN	centriolin	946					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAGAAGGAGAGAATTCTGGC	0.438																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2836-2838)Aga>Cga		centriolin							49.0	49.0	49.0					9																	123904513		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123904513A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2836A>C	9.37:g.123904513A>C						CNTRL_ENST00000373850.1_Silent_p.R394R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000238341.5_Silent_p.R946R	p.R946R			Q7Z7A1	CNTRL_HUMAN			19	3096	+			946					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.2836A>C	CCDS35118.1																																																																																				0.438	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	28	0	0	0	0.00307968	0	8	28				
RPH3A	22895	broad.mit.edu	37	12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:113307745G>A	ENST00000389385.4	+	10	1194	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	233	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(697-699)Gtg>Atg		rabphilin 3A homolog (mouse)							76.0	76.0	76.0					12																	113307745		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307745G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.697G>A	12.37:g.113307745G>A	ENSP00000374036:p.Val233Met					RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M	p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1194	+			233			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.697G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.222976	0.22457	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.71	1.67	0.24075	.	0.612589	0.14781	N	0.298782	T	0.41419	0.1158	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.26902	0.163;0.007;0.007;0.029	B;B;B;B	0.15870	0.014;0.004;0.004;0.014	T	0.17410	-1.0370	10	0.28530	T	0.3	.	8.3292	0.32175	0.3459:0.0:0.6541:0.0	.	184;233;233;229	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	M	233;233;184;229;233;184;233	ENSP00000440384:V233M;ENSP00000374036:V233M;ENSP00000413254:V184M;ENSP00000448297:V229M;ENSP00000405357:V233M;ENSP00000450347:V184M;ENSP00000408889:V233M	ENSP00000374036:V233M	V	+	1	0	RPH3A	111792128	0.415000	0.25416	0.002000	0.10522	0.495000	0.33615	1.466000	0.35310	0.308000	0.22923	-0.136000	0.14681	GTG		0.612	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		24	63	0	0	0	0.00332997	0	24	63				
TTN	7273	broad.mit.edu	37	2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:179595727C>T	ENST00000591111.1	-	58	16938	c.16714G>A	c.(16714-16716)Gat>Aat	p.D5572N	TTN_ENST00000589042.1_Missense_Mutation_p.D5889N|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12389	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCACTATCTTTCTTTTCT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17665-17667)Gat>Aat		titin							172.0	170.0	171.0					2																	179595727		1864	4101	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595727C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16714G>A	2.37:g.179595727C>T	ENSP00000465570:p.Asp5572Asn					TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N	p.D5889N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	17889	-			5572			Ig-like 40.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17665G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.599779	0.46318	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92779	0.7704	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.93807	0.7106	9	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5572	Q8WZ42	TITIN_HUMAN	N	4645	ENSP00000343764:D4645N	ENSP00000343764:D4645N	D	-	1	0	TTN	179303972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	GAT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		87	179	0	0	0	0.00361006	0	87	179				
CHST4	10164	broad.mit.edu	37	16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:71571103G>C	ENST00000338482.5	+	3	866	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	CHST4_ENST00000572450.1_Missense_Mutation_p.V175L|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	175					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGCCACGTGGTGCTCAAGGA	0.617																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(523-525)Gtg>Ctg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							85.0	84.0	85.0					16																	71571103		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571103G>C	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.523G>C	16.37:g.71571103G>C	ENSP00000341206:p.Val175Leu					RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L	p.V175L			Q8NCG5	CHST4_HUMAN			3	866	+			175					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.523G>C	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178335	0.94846	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.81908	-1.55;-1.55	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.142979	0.47852	D	0.000206	D	0.92215	0.7531	M	0.87328	2.875	0.50313	D	0.999864	D	0.71674	0.998	D	0.74023	0.982	D	0.92940	0.6371	10	0.72032	D	0.01	-5.1496	17.5569	0.87894	0.0:0.0:1.0:0.0	.	175	Q8NCG5	CHST4_HUMAN	L	175	ENSP00000341206:V175L;ENSP00000441204:V175L	ENSP00000341206:V175L	V	+	1	0	CHST4	70128604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.022000	0.88759	2.735000	0.93741	0.655000	0.94253	GTG		0.617	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		3	68	0	0	0	0.000602214	0	3	68				
ZNF318	24149	broad.mit.edu	37	6	43305058	43305058	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:43305058A>G	ENST00000361428.2	-	10	6755	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6676-6678)gaT>gaC		zinc finger protein 318							98.0	84.0	88.0					6																	43305058		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305058A>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6678T>C	6.37:g.43305058A>G						ZNF318_ENST00000318149.3_Intron	p.D2226D	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6755	-			2226					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.6678T>C	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	37	0	0	0	0.00400662	0	16	37				
STXBP5L	9515	broad.mit.edu	37	3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:120998716A>G	ENST00000273666.6	+	19	2294	c.2023A>G	c.(2023-2025)Agc>Ggc	p.S675G	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2023-2025)Agc>Ggc		syntaxin binding protein 5-like							163.0	154.0	157.0					3																	120998716		1890	4116	6006	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998716A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2023A>G	3.37:g.120998716A>G	ENSP00000273666:p.Ser675Gly					STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2294	+			675					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2023A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063722	0.55432	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.64803	1.87;-0.12;-0.12;1.2;-0.12;-0.12	5.55	5.55	0.83447	.	0.044936	0.85682	D	0.000000	T	0.59224	0.2178	M	0.64404	1.975	0.58432	D	0.999998	P;P	0.39282	0.666;0.666	B;B	0.34418	0.182;0.182	T	0.64037	-0.6501	10	0.51188	T	0.08	-5.6114	15.6967	0.77506	1.0:0.0:0.0:0.0	.	675;675	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	G	675	ENSP00000273666:S675G;ENSP00000420019:S675G;ENSP00000419627:S675G;ENSP00000420287:S675G;ENSP00000420666:S675G;ENSP00000420167:S675G	ENSP00000273666:S675G	S	+	1	0	STXBP5L	122481406	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.819000	0.69243	2.111000	0.64477	0.383000	0.25322	AGC		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			27	46	0	0	0	0.000878237	0	27	46				
CIITA	4261	broad.mit.edu	37	16	11016081	11016081	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:11016081G>A	ENST00000324288.8	+	17	3340	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	CIITA_ENST00000381835.5_Silent_p.P485P	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1069					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGTGCTTCCGGACATGGTGT	0.627			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3205-3207)ccG>ccA		class II, major histocompatibility complex, transactivator							143.0	138.0	140.0					16																	11016081		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11016081G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3207G>A	16.37:g.11016081G>A						CIITA_ENST00000381835.5_Silent_p.P485P	p.P1069P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			17	3340	+			1069					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.3207G>A	CCDS10544.1																																																																																				0.627	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		36	138	0	0	0	0.00111076	0	36	138				
SMAD4	4089	broad.mit.edu	37	18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr18:48603080C>T	ENST00000342988.3	+	11	1919	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	461	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Poly-Ala.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1381-1383)Cag>Tag		SMAD family member 4							38.0	40.0	40.0					18																	48603080		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603080C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1381C>T	18.37:g.48603080C>T	ENSP00000341551:p.Gln461*					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1919	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	461			MH2.|Poly-Ala.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1381C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	43	10.112397	0.99339	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000341551:Q461X	Q	+	1	0	SMAD4	46857078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.665000	0.83852	2.861000	0.98227	0.655000	0.94253	CAG		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		12	23	0	0	0	0.00136819	0	12	23				
CFHR2	3080	broad.mit.edu	37	1	196876014	196876014	+	Intron	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:196876014G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.E154K|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GCCTGTTTTTGAGAATTCCAG	0.373																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(460-462)Gag>Aag		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196876014G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-42571G>A	1.37:g.196876014G>A						CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	p.E154K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					4	597	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.460G>A		.	.	.	.	.	.	.	.	.	.	.	8.048	0.765433	0.15914	.	.	ENSG00000134365	ENST00000367416	T	0.64085	-0.08	2.96	-0.163	0.13363	.	.	.	.	.	T	0.66538	0.2799	M	0.80422	2.495	0.09310	N	1	P;D	0.53885	0.952;0.963	P;P	0.55749	0.783;0.557	T	0.57487	-0.7803	9	0.10377	T	0.69	.	5.2757	0.15649	0.4411:0.0:0.5589:0.0	.	154;155	C9J7J7;Q5DVJ7	.;.	K	154	ENSP00000356386:E154K	ENSP00000356386:E154K	E	+	1	0	CFHR4	195142637	0.004000	0.15560	0.016000	0.15963	0.239000	0.25481	-0.068000	0.11561	-0.129000	0.11620	0.430000	0.28490	GAG		0.373	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		8	23	0	0	0	0.000442599	0	8	23				
RGAG4	340526	broad.mit.edu	37	X	71350448	71350448	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:71350448T>C	ENST00000545866.1	-	1	1310	c.943A>G	c.(943-945)Aag>Gag	p.K315E	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.K315E	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(943-945)Aag>Gag		retrotransposon gag domain containing 4							109.0	103.0	105.0					X																	71350448		1921	4123	6044	SO:0001583	missense	340526							g.chrX:71350448T>C	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.943A>G	X.37:g.71350448T>C	ENSP00000441366:p.Lys315Glu					RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E|NHSL2_ENST00000540800.1_Intron	p.K315E			Q5HYW3	RGAG4_HUMAN			1	1310	-	Renal(35;0.156)		315					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.943A>G	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323814	0.41096	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13307	2.6;2.6	4.13	4.13	0.48395	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.26162	N	0.979989	P	0.46784	0.884	B	0.43301	0.415	T	0.16571	-1.0398	8	.	.	.	-6.3278	8.5271	0.33311	0.0:0.0:0.0:1.0	.	315	Q5HYW3	RGAG4_HUMAN	E	315	ENSP00000441366:K315E;ENSP00000418667:K315E	.	K	-	1	0	RGAG4	71267173	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.935000	0.48963	1.832000	0.53329	0.486000	0.48141	AAG		0.468	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		3	87	0	0	0	6.4e-05	0	3	87				
MAGEA3	4102	broad.mit.edu	37	X	151935540	151935540	+	Silent	SNP	G	G	A	rs186907646		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:151935540G>A	ENST00000393902.3	-	3	1194	c.627C>T	c.(625-627)atC>atT	p.I209I	MAGEA3_ENST00000370278.3_Silent_p.I209I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562													g|||	2	0.000529801	0.0	0.0	3775	,	,		13480	0.002		0.0	False		,,,				2504	0.0					ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(625-627)atC>atT		melanoma antigen family A, 3							142.0	141.0	141.0					X																	151935540		2202	4292	6494	SO:0001819	synonymous_variant	4102							g.chrX:151935540G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.627C>T	X.37:g.151935540G>A						MAGEA3_ENST00000370278.3_Silent_p.I209I	p.I209I			P43357	MAGA3_HUMAN			3	1194	-	Acute lymphoblastic leukemia(192;6.56e-05)		209			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.627C>T	CCDS14715.1																																																																																				0.562	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		13	169	0	0	0	0.00316338	0	13	169				
CHST6	4166	broad.mit.edu	37	16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T	rs570082634|rs529839563	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:75513153C>T	ENST00000332272.4	-	3	753	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	192					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTTGAGCGCGGGGTCGCTG	0.692													C|||	3	0.000599042	0.0	0.0	5008	,	,		16564	0.003		0.0	False		,,,				2504	0.0					ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	GRCh37	CI065816	CHST6	I		c.(574-576)Gcg>Acg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							41.0	42.0	42.0					16																	75513153		2196	4298	6494	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513153C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.574G>A	16.37:g.75513153C>T	ENSP00000328983:p.Ala192Thr					CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA	p.A192T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	753	-			192					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.574G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339919	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.81821	-1.54;-1.54	4.68	1.19	0.21007	Sulfotransferase domain (1);	0.253900	0.39020	N	0.001494	T	0.60038	0.2238	N	0.25647	0.755	0.09310	N	1	B	0.26577	0.153	B	0.23150	0.044	T	0.36553	-0.9743	10	0.21540	T	0.41	.	2.1057	0.03690	0.3356:0.4148:0.1408:0.1087	.	192	Q9GZX3	CHST6_HUMAN	T	192	ENSP00000328983:A192T;ENSP00000375079:A192T	ENSP00000328983:A192T	A	-	1	0	CHST6	74070654	0.213000	0.23551	0.066000	0.19879	0.678000	0.39670	1.325000	0.33724	0.378000	0.24764	-0.191000	0.12829	GCG		0.692	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		13	49	0	0	0	0.00185496	0	13	49				
LTK	4058	broad.mit.edu	37	15	41797503	41797503	+	Splice_Site	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:41797503C>T	ENST00000263800.6	-	15	1924	c.1828G>A	c.(1828-1830)Ggc>Agc	p.G610S	LTK_ENST00000561619.1_Splice_Site_p.G308S|LTK_ENST00000453182.2_Splice_Site_p.G480S|LTK_ENST00000355166.5_Splice_Site_p.G549S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.e15-1		leukocyte receptor tyrosine kinase							42.0	41.0	41.0					15																	41797503		2203	4300	6503	SO:0001630	splice_region_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797503C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1828-1G>A	15.37:g.41797503C>T		TSP Lung(18;0.14)				LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice	p.G610_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	15	1924	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	610			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Splice_Site	SNP	ENST00000263800.6	37	c.1827_splice	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	1.517	-0.547939	0.04024	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.88741	-2.42;-2.42;-1.14	4.19	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.77890	0.4198	N	0.11131	0.1	0.31865	N	0.620483	B;P;B;B	0.34892	0.008;0.474;0.043;0.418	B;B;B;B	0.41440	0.039;0.357;0.055;0.206	T	0.74203	-0.3741	9	0.11485	T	0.65	.	6.2354	0.20760	0.0:0.7954:0.0:0.2046	.	480;480;549;610	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	S	549;610;480	ENSP00000347293:G549S;ENSP00000263800:G610S;ENSP00000392196:G480S	ENSP00000263800:G610S	G	-	1	0	LTK	39584795	0.524000	0.26282	0.982000	0.44146	0.429000	0.31625	0.982000	0.29539	2.164000	0.68074	0.561000	0.74099	GGC		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Missense_Mutation	5	44	0	0	0	0.000602214	0	5	44				
LILRB1	10859	broad.mit.edu	37	19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:55144664C>T	ENST00000396331.1	+	8	1513	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	386	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1156-1158)Cct>Tct		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							112.0	122.0	118.0					19																	55144664		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144664C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1156C>T	19.37:g.55144664C>T	ENSP00000379622:p.Pro386Ser	HNSCC(37;0.09)				LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S	p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1513	+			386			Ig-like C2-type 4.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1156C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808748	0.31961	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02579	4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24	2.25	-1.5	0.08691	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.077090	0.07317	N	0.877007	T	0.13500	0.0327	M	0.83223	2.63	0.09310	N	1	D;D;D;D;D	0.71674	0.972;0.969;0.998;0.984;0.975	P;P;D;P;P	0.70016	0.759;0.868;0.967;0.868;0.893	T	0.18618	-1.0331	10	0.72032	D	0.01	.	8.1219	0.30976	0.0:0.3493:0.6507:0.0	.	386;386;386;386;386	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	386;386;386;386;386;386;386;386;422;386;386	ENSP00000379614:P386S;ENSP00000391514:P386S;ENSP00000409968:P386S;ENSP00000379622:P386S;ENSP00000379618:P386S;ENSP00000315997:P386S;ENSP00000405243:P386S;ENSP00000379623:P386S;ENSP00000395004:P422S;ENSP00000379610:P386S;ENSP00000379608:P386S	ENSP00000315997:P386S	P	+	1	0	LILRB1	59836476	0.013000	0.17824	0.017000	0.16124	0.014000	0.08584	-0.060000	0.11712	0.143000	0.18926	0.205000	0.17691	CCT		0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			32	105	0	0	0	0.00178596	0	32	105				
KIF19	124602	broad.mit.edu	37	17	72341019	72341019	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:72341019C>T	ENST00000389916.4	+	7	840	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCGGGTCAAGAACATCT	0.697																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(700-702)gtC>gtT		kinesin family member 19							29.0	31.0	30.0					17																	72341019		2201	4298	6499	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72341019C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.702C>T	17.37:g.72341019C>T							p.V234V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	840	+			234			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.702C>T	CCDS32718.2																																																																																				0.697	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		10	26	0	0	0	0.000673444	0	10	26				
ZNF728	388523	broad.mit.edu	37	19	23159583	23159583	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:23159583A>T	ENST00000594710.1	-	4	701	c.556T>A	c.(556-558)Tca>Aca	p.S186T		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	186					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GATAGGTGTGAAAGCATGCAA	0.318																																						ENST00000594710.1																			0											c.(556-558)Tca>Aca		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159583A>T	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.556T>A	19.37:g.23159583A>T	ENSP00000471593:p.Ser186Thr						p.S186T	NM_001267716.1	NP_001254645.1					4	701	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.556T>A	CCDS59370.1																																																																																				0.318	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		10	31	0	0	0	0.000442599	0	10	31				
MRGPRX3	117195	broad.mit.edu	37	11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:18158957G>A	ENST00000396275.2	+	3	569	c.208G>A	c.(208-210)Gcg>Acg	p.A70T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAACCTGGTCGCGGCCGACTT	0.567																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(208-210)Gcg>Acg		MAS-related GPR, member X3		G	THR/ALA	1,4399	2.1+/-5.4	0,1,2199	97.0	93.0	94.0		208	-0.7	0.0	11	dbSNP_134	94	1,8585	1.2+/-3.3	0,1,4292	no	missense	MRGPRX3	NM_054031.3	58	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	benign	70/323	18158957	2,12984	2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158957G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.208G>A	11.37:g.18158957G>A	ENSP00000379571:p.Ala70Thr						p.A70T	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	569	+			70					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.208G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912710	0.17907	2.27E-4	1.16E-4	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.19938	2.11;2.11	1.46	-0.7	0.11273	GPCR, rhodopsin-like superfamily (1);	1.571520	0.03654	N	0.241532	T	0.25901	0.0631	M	0.78049	2.395	0.09310	N	1	P	0.47545	0.897	B	0.40444	0.329	T	0.33497	-0.9866	10	0.51188	T	0.08	.	5.0881	0.14693	0.5518:0.0:0.4482:0.0	.	70	Q96LB0	MRGX3_HUMAN	T	70	ENSP00000379571:A70T;ENSP00000436242:A70T	ENSP00000379571:A70T	A	+	1	0	MRGPRX3	18115533	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.041000	0.13927	-0.206000	0.10203	-1.179000	0.01719	GCG		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		44	76	0	0	0	0.0025221	0	44	76				
TRIM51	84767	broad.mit.edu	37	11	55653151	55653151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:55653151C>T	ENST00000449290.2	+	2	339	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	83						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGCCAGCCTCCGGCAATTCCT	0.483																																						ENST00000449290.2																			0											c.(247-249)Cgg>Tgg		tripartite motif-containing 51							17.0	15.0	16.0					11																	55653151		692	1590	2282	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653151C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.247C>T	11.37:g.55653151C>T	ENSP00000395086:p.Arg83Trp						p.R83W	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	339	+			83					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.247C>T		.	.	.	.	.	.	.	.	.	.	.	0.878	-0.729638	0.03135	.	.	ENSG00000124900	ENST00000449290	T	0.63096	-0.02	.	.	.	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.34861	0.0912	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10520	-1.0626	8	0.52906	T	0.07	.	5.1874	0.15191	0.3697:0.6303:0.0:0.0	.	83	Q9BSJ1	SPRY5_HUMAN	W	83	ENSP00000395086:R83W	ENSP00000395086:R83W	R	+	1	2	SPRYD5	55409727	0.002000	0.14202	0.027000	0.17364	0.057000	0.15508	-1.326000	0.02685	-1.461000	0.01909	-1.906000	0.00525	CGG		0.483	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		7	14	0	0	0	0.00198382	0	7	14				
DOT1L	84444	broad.mit.edu	37	19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:2214510C>T	ENST00000398665.3	+	19	1874	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	613					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGGGCCACGCTGTCGCTG	0.647																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1837-1839)aCg>aTg		DOT1-like histone H3K79 methyltransferase							33.0	38.0	37.0					19																	2214510		2130	4246	6376	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2214510C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1838C>T	19.37:g.2214510C>T	ENSP00000381657:p.Thr613Met					DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	p.T613M	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	1874	+		Hepatocellular(1079;0.137)	613					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1838C>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102585|4.102585	0.76983|0.76983	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.32023	.|1.47	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.102381	.|0.64402	.|D	.|0.000003	T|T	0.54679|0.54679	0.1873|0.1873	M|M	0.68952|0.68952	2.095|2.095	0.47511|0.47511	D|D	0.999448|0.999448	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	T|T	0.59752|0.59752	-0.7395|-0.7395	5|10	.|0.87932	.|D	.|0	-22.5585|-22.5585	16.981|16.981	0.86327|0.86327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|613	.|Q8TEK3-2	.|.	C|M	400|613	.|ENSP00000381657:T613M	.|ENSP00000221482:T613M	R|T	+|+	1|2	0|0	DOT1L|DOT1L	2165510|2165510	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.656000|0.656000	0.38851|0.38851	7.139000|7.139000	0.77314|0.77314	2.309000|2.309000	0.77851|0.77851	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		14	25	0	0	0	0.00316338	0	14	25				
ARNT	405	broad.mit.edu	37	1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:150795676T>C	ENST00000358595.5	-	14	1588	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.408			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1387-1389)aAt>aGt		aryl hydrocarbon receptor nuclear translocator							119.0	114.0	116.0					1																	150795676		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150795676T>C	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1388A>G	1.37:g.150795676T>C	ENSP00000351407:p.Asn463Ser					ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S	p.N463S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		14	1588	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		463			PAC.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1388A>G	CCDS970.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198496	0.38806	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.63	0.855	0.19013	.	0.087399	0.85682	N	0.000000	T	0.04861	0.0131	L	0.32530	0.975	0.54753	D	0.999989	B;B;B;B;B;B	0.23735	0.09;0.007;0.001;0.0;0.003;0.007	B;B;B;B;B;B	0.21151	0.033;0.02;0.009;0.009;0.032;0.02	T	0.23476	-1.0187	10	0.38643	T	0.18	.	10.445	0.44488	0.0:0.2127:0.0:0.7873	.	447;448;463;449;448;463	B4E3L5;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;ARNT_HUMAN	S	463;463;449;447;448	ENSP00000351407:N463S;ENSP00000346372:N463S;ENSP00000423851:N449S;ENSP00000427571:N448S	ENSP00000346372:N463S	N	-	2	0	ARNT	149062300	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	2.834000	0.48167	0.171000	0.19730	0.482000	0.46254	AAT		0.408	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			4	52	0	0	0	0.000602214	0	4	52				
ZNF124	7678	broad.mit.edu	37	1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:247320151C>G	ENST00000543802.2	-	4	862	c.773G>C	c.(772-774)gGt>gCt	p.G258A	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000340684.6_Missense_Mutation_p.G196A			Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438																																						ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(586-588)gGt>gCt		zinc finger protein 124							130.0	126.0	127.0					1																	247320151		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320151C>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.773G>C	1.37:g.247320151C>G	ENSP00000440365:p.Gly258Ala					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A	p.G196A	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	725	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		258					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.587G>C		.	.	.	.	.	.	.	.	.	.	C	16.89	3.247094	0.59103	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T;T	0.26373	1.74;4.82	0.864	0.864	0.19068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45458	0.1343	M	0.78456	2.415	0.42862	D	0.99411	D;D	0.76494	0.996;0.999	P;D	0.73380	0.781;0.98	T	0.47045	-0.9147	9	0.87932	D	0	.	7.5457	0.27766	0.0:1.0:0.0:0.0	.	258;196	Q15973;Q15973-4	ZN124_HUMAN;.	A	219;196;202	ENSP00000340749:G196A;ENSP00000440365:G202A	ENSP00000340749:G196A	G	-	2	0	ZNF124	245386774	0.401000	0.25303	0.010000	0.14722	0.370000	0.29829	1.437000	0.34991	0.746000	0.32786	0.467000	0.42956	GGT		0.438	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		32	68	0	0	0	0.00178596	0	32	68				
PTGR2	145482	broad.mit.edu	37	14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T	rs376183153		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:74327274C>T	ENST00000555661.1	+	3	215	c.70C>T	c.(70-72)Cga>Tga	p.R24*	RP5-1021I20.4_ENST00000556551.2_Nonsense_Mutation_p.R24*|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000553813.1_5'UTR|Y_RNA_ENST00000411368.1_RNA			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AGAGAATTTCCGAATGGAAGA	0.284																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(70-72)Cga>Tga		prostaglandin reductase 2		C	stop/ARG,stop/ARG,stop/ARG	0,4404		0,0,2202	64.0	71.0	68.0		70,70,70	3.0	1.0	14		68	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained,stop-gained,stop-gained	PTGR2	NM_001146154.1,NM_001146155.1,NM_152444.2	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	24/352,24/352,24/352	74327274	1,12995	2202	4296	6498	SO:0001587	stop_gained	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74327274C>T	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.70C>T	14.37:g.74327274C>T	ENSP00000452280:p.Arg24*					PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000554885.1_5'UTR|RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*	p.R24*			Q8N8N7	PTGR2_HUMAN			3	215	+			24					Q3L8A4|Q6MZH8	Nonsense_Mutation	SNP	ENST00000555661.1	37	c.70C>T	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	37	6.374414	0.97515	0.0	1.16E-4	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	.	.	.	5.93	2.99	0.34606	.	0.050554	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8354	8.1247	0.30992	0.411:0.5167:0.0:0.0723	.	.	.	.	X	24	.	ENSP00000267568:R24X	R	+	1	2	PTGR2	73397027	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	1.369000	0.34227	0.341000	0.23771	0.591000	0.81541	CGA		0.284	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			22	38	0	0	0	0.00278032	0	22	38				
TECPR2	9895	broad.mit.edu	37	14	102874944	102874944	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:102874944G>C	ENST00000359520.7	+	4	694	c.468G>C	c.(466-468)ctG>ctC	p.L156L	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.L156L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATTCTTCTCTGGATCTAGACC	0.338																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(466-468)ctG>ctC		tectonin beta-propeller repeat containing 2							110.0	116.0	114.0					14																	102874944		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102874944G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.468G>C	14.37:g.102874944G>C						TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.L156L	p.L156L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			4	694	+			156					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.468G>C	CCDS32162.1																																																																																				0.338	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		19	48	0	0	0	0.00121646	0	19	48				
ZNF804B	219578	broad.mit.edu	37	7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:88963629C>G	ENST00000333190.4	+	4	1942	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1333-1335)Cac>Gac		zinc finger protein 804B							70.0	69.0	69.0					7																	88963629		2202	4297	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963629C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1333C>G	7.37:g.88963629C>G	ENSP00000329638:p.His445Asp	HNSCC(36;0.09)					p.H445D	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1942	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		445					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1333C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444862	0.43429	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.49	5.49	0.81192	.	0.168110	0.42682	D	0.000664	T	0.11410	0.0278	L	0.56769	1.78	0.29748	N	0.836547	D	0.54397	0.966	P	0.47299	0.543	T	0.04855	-1.0922	10	0.30078	T	0.28	-11.4062	14.4168	0.67155	0.1473:0.8527:0.0:0.0	.	445	A4D1E1	Z804B_HUMAN	D	445	ENSP00000329638:H445D	ENSP00000329638:H445D	H	+	1	0	ZNF804B	88801565	0.998000	0.40836	0.995000	0.50966	0.783000	0.44284	2.389000	0.44407	2.865000	0.98341	0.655000	0.94253	CAC		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	59	0	0	0	0.00024832	0	3	59				
FSIP2	401024	broad.mit.edu	37	2	186670771	186670771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:186670771G>A	ENST00000424728.1	+	17	16738	c.16738G>A	c.(16738-16740)Gat>Aat	p.D5580N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5669N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5580										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAAAGATGATGAGATATA	0.274																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17005-17007)Gat>Aat		fibrous sheath interacting protein 2							62.0	65.0	64.0					2																	186670771		1789	4057	5846	SO:0001583	missense	401024							g.chr2:186670771G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16738G>A	2.37:g.186670771G>A	ENSP00000401306:p.Asp5580Asn					FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N	p.D5669N	NM_173651.2	NP_775922.2					17	17005	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17005G>A		.	.	.	.	.	.	.	.	.	.	G	2.055	-0.416680	0.04766	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.42513	0.97;0.97	5.17	-3.51	0.04696	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.18147	-1.0346	7	0.19147	T	0.46	.	1.9131	0.03291	0.364:0.2283:0.3004:0.1073	.	.	.	.	N	5669;5580	ENSP00000344403:D5669N;ENSP00000401306:D5580N	ENSP00000344403:D5669N	D	+	1	0	FSIP2	186379016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-0.990000	0.03481	-3.039000	0.00071	GAT		0.274	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		38	80	0	0	0	0.00148497	0	38	80				
MUC17	140453	broad.mit.edu	37	7	100683020	100683020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:100683020G>C	ENST00000306151.4	+	3	8387	c.8323G>C	c.(8323-8325)Gct>Cct	p.A2775P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2775	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTGCTGTTGACAC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8323-8325)Gct>Cct		mucin 17, cell surface associated																																				SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683020G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8323G>C	7.37:g.100683020G>C	ENSP00000302716:p.Ala2775Pro						p.A2775P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8387	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2775			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8323G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.121	-1.126082	0.01770	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.661	-1.32	0.09201	.	.	.	.	.	T	0.00998	0.0033	N	0.01352	-0.895	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.44375	-0.9332	9	0.18710	T	0.47	.	4.9331	0.13926	0.1809:0.3984:0.4206:0.0	.	2775	Q685J3	MUC17_HUMAN	P	2775	ENSP00000302716:A2775P	ENSP00000302716:A2775P	A	+	1	0	MUC17	100469740	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.294000	0.00134	-2.664000	0.00417	-2.023000	0.00429	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	514	0	0	0	0.000602214	0	4	514				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	84	0	0	0	6.4e-05	0	3	84				
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:155887399T>G	ENST00000368321.3	-	11	1354	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q444P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.						RNA binding (GO:0003723)	p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562																																						ENST00000368320.3																			1	Substitution - Missense(1)	p.Q444P(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1330-1332)cAg>cCg		KIAA0907							10.0	13.0	12.0					1																	155887399		2180	4260	6440	SO:0001583	missense	22889							g.chr1:155887399T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1331A>C	1.37:g.155887399T>G	ENSP00000357304:p.Gln444Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P	p.Q444P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1356	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		444			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1331A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164445	0.38217	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.27402	1.67;1.67	5.49	4.36	0.52297	.	0.380168	0.30464	N	0.009568	T	0.18215	0.0437	N	0.19112	0.55	0.44789	D	0.997794	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.05209	-1.0899	10	0.06494	T	0.89	-0.2991	11.4897	0.50373	0.0:0.0:0.1502:0.8498	.	444;444	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	444	ENSP00000357304:Q444P;ENSP00000357303:Q444P	ENSP00000357303:Q444P	Q	-	2	0	KIAA0907	154154023	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.594000	0.24014	0.999000	0.39023	0.533000	0.62120	CAG		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		4	13	0	0	0	0.00024832	0	4	13				
SOAT2	8435	broad.mit.edu	37	12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:53509227C>T	ENST00000301466.3	+	6	557	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	166					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CTGCCATTGGCGCTGGTGACC	0.612																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(496-498)gCg>gTg		sterol O-acyltransferase 2							53.0	54.0	53.0					12																	53509227		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509227C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.497C>T	12.37:g.53509227C>T	ENSP00000301466:p.Ala166Val						p.A166V	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			6	557	+			166					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.497C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356127	0.24598	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.72615	2.39;-0.67	5.2	5.2	0.72013	.	0.133719	0.51477	D	0.000087	T	0.40448	0.1117	N	0.04355	-0.22	0.41980	D	0.990792	P	0.47962	0.903	B	0.31245	0.126	T	0.58059	-0.7703	10	0.02654	T	1	-6.8264	17.9076	0.88923	0.0:1.0:0.0:0.0	.	166	O75908	SOAT2_HUMAN	V	146;166	ENSP00000450120:A146V;ENSP00000301466:A166V	ENSP00000301466:A166V	A	+	2	0	SOAT2	51795494	0.638000	0.27225	1.000000	0.80357	0.976000	0.68499	1.019000	0.30014	2.611000	0.88343	0.655000	0.94253	GCG		0.612	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			14	29	0	0	0	0.00400662	0	14	29				
ZNF525	170958	broad.mit.edu	37	19	53884457	53884457	+	5'Flank	SNP	C	C	T	rs531436305		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:53884457C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C|ZNF525_ENST00000467003.1_Missense_Mutation_p.R173C|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						ACAGGAAGTACGCATGAGAGA	0.348																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(517-519)Cgc>Tgc		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884457C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884457C>T	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C	p.R173C							4	718	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	T	6.530	0.465946	0.12402	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.28255	1.62;1.62	1.25	0.1	0.14510	.	.	.	.	.	T	0.32133	0.0819	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	6	0.59425	D	0.04	.	8.8982	0.35479	0.0:0.8409:0.0:0.1591	.	.	.	.	C	209;173	ENSP00000417696:R209C;ENSP00000419136:R173C	ENSP00000419136:R173C	R	+	1	0	ZNF525	58576269	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.221000	0.17680	-0.264000	0.09365	-2.194000	0.00310	CGC		0.348	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		23	55	0	0	0	0.00278032	0	23	55				
PRMT6	55170	broad.mit.edu	37	1	107600207	107600207	+	Missense_Mutation	SNP	C	C	G	rs543871651	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:107600207C>G	ENST00000370078.1	+	1	907	c.870C>G	c.(868-870)atC>atG	p.I290M	PRMT6_ENST00000361318.5_Missense_Mutation_p.I231M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	290	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCTTTGCCATCTGGTTCCAGG	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15136	0.0		0.001	False		,,,				2504	0.0					ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(691-693)atC>atG		protein arginine methyltransferase 6							26.0	30.0	29.0					1																	107600207		1951	4165	6116	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600207C>G	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.870C>G	1.37:g.107600207C>G	ENSP00000359095:p.Ile290Met					PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M	p.I231M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	941	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	290					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.693C>G	CCDS41360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.55|11.55	1.673022|1.673022	0.29693|0.29693	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.22336|.	1.96;1.96|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.381513|.	0.26099|.	N|.	0.026347|.	T|T	0.27697|0.27697	0.0681|0.0681	L|L	0.39898|0.39898	1.24|1.24	0.27510|0.27510	N|N	0.951724|0.951724	B|.	0.14012|.	0.009|.	B|.	0.20184|.	0.028|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|6	0.46703|0.87932	T|D	0.11|0	-10.0351|-10.0351	9.2146|9.2146	0.37339|0.37339	0.0:0.9043:0.0:0.0957|0.0:0.9043:0.0:0.0957	.|.	290|.	Q96LA8|.	ANM6_HUMAN|.	M|V	231;290|184	ENSP00000355145:I231M;ENSP00000359095:I290M|.	ENSP00000355145:I231M|ENSP00000440829:L184V	I|L	+|+	3|1	3|2	PRMT6|PRMT6	107401730|107401730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.712000|0.712000	0.25779|0.25779	2.584000|2.584000	0.87258|0.87258	0.442000|0.442000	0.29010|0.29010	ATC|CTG		0.662	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		15	36	0	0	0	0.00316338	0	15	36				
WDR60	55112	broad.mit.edu	37	7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T	rs373833205		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:158695196A>T	ENST00000407559.3	+	10	1425	c.1267A>T	c.(1267-1269)Att>Ttt	p.I423F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1267-1269)Att>Ttt		WD repeat domain 60							128.0	120.0	123.0					7																	158695196		1829	4085	5914	SO:0001583	missense	55112							g.chr7:158695196A>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1267A>T	7.37:g.158695196A>T	ENSP00000384290:p.Ile423Phe						p.I423F	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	10	1425	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	423					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.1267A>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060108	0.76074	.	.	ENSG00000126870	ENST00000407559	T	0.26223	1.75	4.68	4.68	0.58851	.	0.057169	0.64402	D	0.000001	T	0.49150	0.1540	M	0.74881	2.28	0.48762	D	0.999704	D	0.89917	1.0	D	0.73708	0.981	T	0.52881	-0.8516	10	0.66056	D	0.02	-21.249	12.3793	0.55297	1.0:0.0:0.0:0.0	.	423	Q8WVS4	WDR60_HUMAN	F	423	ENSP00000384290:I423F	ENSP00000384290:I423F	I	+	1	0	WDR60	158387957	1.000000	0.71417	0.880000	0.34516	0.804000	0.45430	6.895000	0.75660	1.886000	0.54624	0.459000	0.35465	ATT		0.368	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		19	67	0	0	0	0.000958276	0	19	67				
NCOA1	8648	broad.mit.edu	37	2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:24929972A>G	ENST00000406961.1	+	13	2285	c.1633A>G	c.(1633-1635)Aat>Gat	p.N545D	NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000405141.1_Missense_Mutation_p.N545D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	545	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1633-1635)Aat>Gat		nuclear receptor coactivator 1							72.0	74.0	74.0					2																	24929972		2200	4300	6500	SO:0001583	missense	8648							g.chr2:24929972A>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1633A>G	2.37:g.24929972A>G	ENSP00000385216:p.Asn545Asp					NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D	p.N545D			Q15788	NCOA1_HUMAN			14	2344	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		545			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1633A>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445448	0.43429	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01981	4.63;4.63;4.52;4.63;4.63;4.63;4.63	5.64	4.42	0.53409	.	0.351097	0.32802	N	0.005623	T	0.02929	0.0087	L	0.47716	1.5	0.30533	N	0.767213	B;B;B;B	0.32467	0.372;0.255;0.372;0.005	B;B;B;B	0.30316	0.114;0.053;0.114;0.005	T	0.07597	-1.0764	10	0.54805	T	0.06	.	11.3489	0.49577	0.8641:0.0:0.0:0.1359	.	545;545;545;394	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	545;545;394;545;545;545;545	ENSP00000385216:N545D;ENSP00000385097:N545D;ENSP00000385195:N394D;ENSP00000444039:N545D;ENSP00000320940:N545D;ENSP00000288599:N545D;ENSP00000379197:N545D	ENSP00000288599:N545D	N	+	1	0	NCOA1	24783476	0.798000	0.28890	1.000000	0.80357	0.997000	0.91878	2.004000	0.40854	2.148000	0.66965	0.533000	0.62120	AAT		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		9	38	0	0	0	0.00448238	0	9	38				
DDC	1644	broad.mit.edu	37	7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:50605594C>G	ENST00000444124.2	-	4	599	c.399G>C	c.(397-399)ttG>ttC	p.L133F	DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000357936.5_Missense_Mutation_p.L133F	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	133	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTTTCTCATTCAAAAATGCCT	0.572																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(397-399)ttG>ttC		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						112.0	102.0	105.0					7																	50605594		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50605594C>G		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.399G>C	7.37:g.50605594C>G	ENSP00000403644:p.Leu133Phe					DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000489162.1_5'UTR	p.L133F	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			4	599	-	Glioma(55;0.08)|all_neural(89;0.245)		133			2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.399G>C	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962554	0.34659	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.62	2.42	0.29668	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.134847	0.49916	D	0.000122	T	0.66982	0.2845	M	0.93016	3.37	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.68577	-0.5372	10	0.87932	D	0	-9.7144	7.1199	0.25437	0.0:0.5466:0.0:0.4534	.	133	P20711	DDC_HUMAN	F	133	ENSP00000350616:L133F;ENSP00000399184:L133F;ENSP00000403644:L133F;ENSP00000370371:L133F	ENSP00000350616:L133F	L	-	3	2	DDC	50573088	1.000000	0.71417	0.010000	0.14722	0.004000	0.04260	0.684000	0.25364	0.728000	0.32382	0.591000	0.81541	TTG		0.572	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			22	64	0	0	0	0.00152264	0	22	64				
PCDHA12	56137	broad.mit.edu	37	5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr5:140256564G>A	ENST00000398631.2	+	1	1507	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1507-1509)Gca>Aca									67.0	68.0	68.0					5																	140256564		2203	4299	6502	SO:0001583	missense	56137							g.chr5:140256564G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1507G>A	5.37:g.140256564G>A	ENSP00000381628:p.Ala503Thr					PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A503T	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1507	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1507G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233753	0.22626	.	.	ENSG00000251664	ENST00000398631	T	0.50548	0.74	4.98	-2.69	0.06022	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22820	0.0551	N	0.11341	0.13	0.09310	N	1	P;B	0.35807	0.522;0.241	B;B	0.36464	0.225;0.037	T	0.15983	-1.0418	9	0.56958	D	0.05	.	2.097	0.03670	0.1606:0.3961:0.1537:0.2896	.	503;503	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	503	ENSP00000381628:A503T	ENSP00000381628:A503T	A	+	1	0	PCDHA12	140236748	0.000000	0.05858	0.002000	0.10522	0.492000	0.33523	-0.869000	0.04232	-0.440000	0.07211	-0.225000	0.12378	GCA		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	87	0	0	0	0.000442599	0	8	87				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	50	0	0	0	0.00024832	0	4	50				
CDYL2	124359	broad.mit.edu	37	16	80718469	80718469	+	Silent	SNP	G	G	A	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:80718469G>A	ENST00000570137.2	-	2	737	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000562753.1_5'Flank|CDYL2_ENST00000562812.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGTGATTCACGTCACATTCAC	0.527													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20089	0.0		0.0	False		,,,				2504	0.0					ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(580-582)gaC>gaT		chromodomain protein, Y-like 2		G		0,4406		0,0,2203	140.0	116.0	124.0		582	-10.3	0.0	16	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDYL2	NM_152342.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		194/507	80718469	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718469G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.582C>T	16.37:g.80718469G>A						CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D	p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	737	-			194					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.582C>T	CCDS32493.1																																																																																				0.527	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		15	59	0	0	0	0.000566183	0	15	59				
HDAC4	9759	broad.mit.edu	37	2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:239988450C>A	ENST00000345617.3	-	24	3747	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	AC017028.3_ENST00000584260.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.9_ENST00000581111.1_RNA|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*|AC017028.4_ENST00000577359.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.2_ENST00000578555.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2956-2958)Gaa>Taa		histone deacetylase 4							91.0	90.0	90.0					2																	239988450		2203	4300	6503	SO:0001587	stop_gained	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239988450C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2956G>T	2.37:g.239988450C>A	ENSP00000264606:p.Glu986*					HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*	p.E986*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	24	3747	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	986			Histone deacetylase.		Q9UND6	Nonsense_Mutation	SNP	ENST00000345617.3	37	c.2956G>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	37	6.076545	0.97262	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4493	0.87587	0.0:1.0:0.0:0.0	.	.	.	.	X	986;874;570	.	ENSP00000264606:E986X	E	-	1	0	HDAC4	239653387	1.000000	0.71417	0.985000	0.45067	0.840000	0.47671	7.342000	0.79310	2.288000	0.76882	0.591000	0.81541	GAA		0.642	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		32	45	1	0	6.00712e-18	0.0024448	2.59954e-17	32	45				
BRCA1	672	broad.mit.edu	37	17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:41228515C>T	ENST00000357654.3	-	13	4592	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000309486.4_Missense_Mutation_p.G1196R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1492					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3586-3588)Gga>Aga	Homologous recombination	breast cancer 1, early onset							121.0	113.0	116.0					17																	41228515		2202	4300	6502	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41228515C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4474G>A	17.37:g.41228515C>T	ENSP00000350283:p.Gly1492Arg	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R	p.G1196R	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	12	4613	-		Breast(137;0.000717)	1492					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3586G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518927	0.44866	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825	T;T;T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	4.97	3.95	0.45737	.	0.580298	0.15583	N	0.254816	T	0.53367	0.1792	L	0.34521	1.04	0.09310	N	0.999996	B;D;B;P;B;B;B;B	0.56035	0.113;0.974;0.064;0.623;0.064;0.113;0.017;0.18	B;P;B;B;B;B;B;B	0.50860	0.046;0.652;0.031;0.328;0.031;0.046;0.01;0.099	T	0.45160	-0.9280	10	0.87932	D	0	-1.8908	8.3164	0.32102	0.0:0.8846:0.0:0.1154	.	388;341;387;389;388;1514;1492;1492	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	R	1492;1513;350;309;1196;388;341;1514;1445;387;388;263;342;264	ENSP00000350283:G1492R;ENSP00000312236:G350R;ENSP00000338007:G309R;ENSP00000310938:G1196R;ENSP00000417148:G388R;ENSP00000377294:G341R;ENSP00000418775:G1445R;ENSP00000420412:G388R;ENSP00000419481:G263R;ENSP00000418819:G342R;ENSP00000418212:G264R	ENSP00000310938:G1196R	G	-	1	0	BRCA1	38482041	0.004000	0.15560	0.015000	0.15790	0.336000	0.28762	0.496000	0.22499	1.217000	0.43442	-0.367000	0.07326	GGA		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		17	49	0	0	0	0.000566183	0	17	49				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	53	0	0	0	0.00024832	0	3	53				
ZNF708	7562	broad.mit.edu	37	19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:21476934T>G	ENST00000356929.3	-	4	1031	c.834A>C	c.(832-834)aaA>aaC	p.K278N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTTGTAGGGTTTCTCTCCAG	0.373																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(832-834)aaA>aaC		zinc finger protein 708							49.0	53.0	52.0					19																	21476934		2185	4294	6479	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476934T>G	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.834A>C	19.37:g.21476934T>G	ENSP00000349401:p.Lys278Asn						p.K278N	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1031	-			278					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.834A>C	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	8.026	0.760795	0.15914	.	.	ENSG00000182141	ENST00000356929	T	0.26067	1.76	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43033	0.1229	M	0.83384	2.64	0.29909	N	0.82371	D	0.64830	0.994	P	0.60117	0.869	T	0.40720	-0.9548	9	0.87932	D	0	.	3.8073	0.08782	0.0:0.2333:0.0:0.7667	.	278	P17019	ZN708_HUMAN	N	278	ENSP00000349401:K278N	ENSP00000349401:K278N	K	-	3	2	ZNF708	21268774	0.006000	0.16342	0.567000	0.28434	0.511000	0.34104	-0.765000	0.04730	0.408000	0.25621	0.397000	0.26171	AAA		0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		23	54	0	0	0	0.00395357	0	23	54				
FLG	2312	broad.mit.edu	37	1	152279921	152279921	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:152279921A>G	ENST00000368799.1	-	3	7476	c.7441T>C	c.(7441-7443)Ttg>Ctg	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACCAATTGCTCGTAG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7441-7443)Ttg>Ctg		filaggrin							354.0	328.0	337.0					1																	152279921		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279921A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7441T>C	1.37:g.152279921A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L2481L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7476	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2481			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7441T>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	534	0	0	0	0.000602214	0	5	534				
ACAD10	80724	broad.mit.edu	37	12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:112165809C>G	ENST00000313698.4	+	9	1260	c.1105C>G	c.(1105-1107)Ctc>Gtc	p.L369V	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000455480.2_Missense_Mutation_p.L400V	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	369						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCCCAGGTCTCATCTACAA	0.522																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1198-1200)Ctc>Gtc		acyl-CoA dehydrogenase family, member 10							191.0	177.0	182.0					12																	112165809		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165809C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1105C>G	12.37:g.112165809C>G	ENSP00000325137:p.Leu369Val					ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR	p.L400V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1375	+			369					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1198C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899752	0.33535	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.27720	1.65;1.65;1.65	5.3	2.34	0.29019	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.982353	0.08355	N	0.958574	T	0.18130	0.0435	N	0.04355	-0.22	0.09310	N	0.999996	B;B;B	0.16802	0.019;0.019;0.012	B;B;B	0.21917	0.037;0.031;0.032	T	0.34775	-0.9815	10	0.72032	D	0.01	.	11.3342	0.49494	0.1297:0.5939:0.2764:0.0	.	400;369;369	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	369;369;400;369;107;107	ENSP00000446959:L369V;ENSP00000389813:L400V;ENSP00000325137:L369V	ENSP00000325137:L369V	L	+	1	0	ACAD10	110650192	0.001000	0.12720	0.156000	0.22583	0.942000	0.58702	0.710000	0.25748	0.185000	0.20105	-0.321000	0.08615	CTC		0.522	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		45	141	0	0	0	0.00222228	0	45	141				
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	rs141328314	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:120050217G>A	ENST00000369413.3	+	2	263	c.118G>A	c.(118-120)Gga>Aga	p.G40R	HSD3B1_ENST00000235547.6_Missense_Mutation_p.G42R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.G40I(1)|p.G40R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CAAGGCCTTCGGACCAGAATT	0.507																																						ENST00000235547.6																			2	Substitution - Missense(2)	p.G40I(1)|p.G40R(1)	lung(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(124-126)Gga>Aga		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)	A	ARG/GLY	1,4405	826.1+/-416.6	0,1,2202	174.0	148.0	157.0		118	1.7	1.0	1	dbSNP_134	157	2,8598	819.2+/-406.8	0,2,4298	no	missense	HSD3B1	NM_000862.2	125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	40/374	120050217	3,13003	2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120050217G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.118G>A	1.37:g.120050217G>A	ENSP00000358421:p.Gly40Arg					HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R	p.G42R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	2	263	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	40					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.124G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.287849	0.00248	2.27E-4	2.33E-4	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	2.91	1.7	0.24286	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.306760	0.30347	N	0.009836	T	0.22666	0.0547	N	0.00885	-1.115	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42783	-0.9431	10	0.09590	T	0.72	-10.7608	3.0698	0.06226	0.6014:0.2521:0.1465:0.0	.	42;40	Q5TDG2;P14060	.;3BHS1_HUMAN	R	40;40;42;40	ENSP00000435999:G40R;ENSP00000358421:G40R;ENSP00000235547:G42R;ENSP00000432268:G40R	ENSP00000235547:G42R	G	+	1	0	HSD3B1	119851740	0.519000	0.26242	0.967000	0.41034	0.224000	0.24922	0.671000	0.25172	-0.146000	0.11274	-0.817000	0.03123	GGA		0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		23	71	0	0	0	0.00395357	0	23	71				
MPZL3	196264	broad.mit.edu	37	11	118107898	118107898	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:118107898T>C	ENST00000278949.4	-	3	373	c.318A>G	c.(316-318)gtA>gtG	p.V106V	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	106	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(316-318)gtA>gtG		myelin protein zero-like 3							208.0	194.0	199.0					11																	118107898		2200	4296	6496	SO:0001819	synonymous_variant	196264				cell adhesion	integral to membrane		g.chr11:118107898T>C	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.318A>G	11.37:g.118107898T>C						MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V	p.V106V			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	373	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	106			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	c.318A>G	CCDS8392.1																																																																																				0.428	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		61	71	0	0	0	0.00361006	0	61	71				
NAA15	80155	broad.mit.edu	37	4	140265372	140265372	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:140265372T>C	ENST00000296543.5	+	6	893	c.570T>C	c.(568-570)agT>agC	p.S190S	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.S190S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	190					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAATATAGTGAACTACTCT	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(568-570)agT>agC		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							84.0	77.0	79.0					4																	140265372		1811	4077	5888	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140265372T>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.570T>C	4.37:g.140265372T>C						NAA15_ENST00000398947.1_Silent_p.S190S|NAA15_ENST00000480277.2_3'UTR	p.S190S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			6	893	+			190					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.570T>C	CCDS43270.1																																																																																				0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		3	43	0	0	0	6.4e-05	0	3	43				
CBR4	84869	broad.mit.edu	37	4	169927998	169927998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169927998T>C	ENST00000306193.3	-	3	476	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCAT	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(307-309)cAg>cGg		carbonyl reductase 4							193.0	191.0	192.0					4																	169927998		2203	4300	6503	SO:0001583	missense	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169927998T>C	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.308A>G	4.37:g.169927998T>C	ENSP00000303525:p.Gln103Arg					CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R	p.Q103R	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	476	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	103					Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	c.308A>G	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889201	0.52014	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.87334	-2.24;-2.24;-2.24	5.87	3.34	0.38264	NAD(P)-binding domain (1);	0.458965	0.23534	N	0.047155	T	0.81432	0.4821	L	0.41492	1.28	0.31276	N	0.691139	P	0.45283	0.855	B	0.42245	0.381	T	0.78331	-0.2245	9	.	.	.	.	10.3649	0.44017	0.378:0.0:0.0:0.622	.	103	Q8N4T8	CBR4_HUMAN	R	103;103;100	ENSP00000303525:Q103R;ENSP00000427615:Q103R;ENSP00000423128:Q100R	.	Q	-	2	0	CBR4	170164573	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.639000	0.46570	0.426000	0.26116	-0.336000	0.08194	CAG		0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		6	151	0	0	0	0.00307968	0	6	151				
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453																																						ENST00000478945.1																			1	Substitution - Missense(1)	p.R101L(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(301-303)cGg>cAg		developmental pluripotency associated 2							195.0	200.0	198.0					3																	109028057		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028057C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.302G>A	3.37:g.109028057C>T	ENSP00000417710:p.Arg101Gln						p.R101Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	548	-			101			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.302G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606016	0.46527	.	.	ENSG00000163530	ENST00000478945	T	0.60299	0.2	4.48	3.6	0.41247	DNA-binding SAP (2);	0.138820	0.33161	N	0.005214	T	0.68522	0.3010	M	0.64170	1.965	0.26220	N	0.979166	D	0.89917	1.0	D	0.87578	0.998	T	0.58183	-0.7681	10	0.87932	D	0	-12.9163	7.6849	0.28534	0.0:0.8885:0.0:0.1115	.	101	Q7Z7J5	DPPA2_HUMAN	Q	101	ENSP00000417710:R101Q	ENSP00000417710:R101Q	R	-	2	0	DPPA2	110510747	0.128000	0.22383	0.899000	0.35326	0.022000	0.10575	0.531000	0.23052	2.489000	0.83994	0.561000	0.74099	CGG		0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		42	182	0	0	0	0.00195071	0	42	182				
OR52E2	119678	broad.mit.edu	37	11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T	rs201289601	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5080067C>T	ENST00000321522.2	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052). {ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCGGCCAAAGCGATGAGTCAT	0.473													C|||	3	0.000599042	0.0	0.0	5008	,	,		18279	0.0		0.0	False		,,,				2504	0.0031					ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(790-792)cGc>cAc		olfactory receptor, family 52, subfamily E, member 2		C	HIS/ARG	0,4402		0,0,2201	91.0	91.0	91.0		791	0.9	0.9	11		91	2,8594	2.2+/-6.3	0,2,4296	no	missense	OR52E2	NM_001005164.2	29	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	264/326	5080067	2,12996	2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080067C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.791G>A	11.37:g.5080067C>T	ENSP00000322088:p.Arg264His						p.R264H	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	790	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	264		R -> C (in dbSNP:rs2500052).				Missense_Mutation	SNP	ENST00000321522.2	37	c.791G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635123	0.29068	0.0	2.33E-4	ENSG00000176787	ENST00000321522	T	0.37235	1.21	3.76	0.879	0.19155	GPCR, rhodopsin-like superfamily (1);	0.123911	0.34200	N	0.004162	T	0.45836	0.1362	M	0.93016	3.37	0.25354	N	0.988843	P	0.47106	0.89	P	0.44990	0.466	T	0.47736	-0.9094	10	0.72032	D	0.01	.	4.6513	0.12596	0.1564:0.576:0.0:0.2676	.	264	Q8NGJ4	O52E2_HUMAN	H	264	ENSP00000322088:R264H	ENSP00000322088:R264H	R	-	2	0	OR52E2	5036643	0.003000	0.15002	0.891000	0.34965	0.659000	0.38960	1.956000	0.40382	0.224000	0.20940	-0.138000	0.14375	CGC		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		6	75	0	0	0	0.00116845	0	6	75				
MUC17	140453	broad.mit.edu	37	7	100677784	100677784	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:100677784T>C	ENST00000306151.4	+	3	3151	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGGTACCAGCATGC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3085-3087)ggT>ggC		mucin 17, cell surface associated							490.0	392.0	425.0					7																	100677784		2203	4298	6501	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677784T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3087T>C	7.37:g.100677784T>C							p.G1029G	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3151	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1029			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3087T>C	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		178	464	0	0	0	0.00361006	0	178	464				
BIRC5	332	broad.mit.edu	37	17	76219780	76219780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:76219780C>T	ENST00000600484.1	-	5	499	c.500G>A	c.(499-501)aGc>aAc	p.S167N	BIRC5_ENST00000374948.2_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000301633.4_3'UTR|BIRC5_ENST00000589892.1_3'UTR																							TTCAACTGTGCTCTTGTTTTG	0.493																																						ENST00000600484.1																			0											c.(499-501)aGc>aAc									11.0	12.0	11.0					17																	76219780		2194	4283	6477	SO:0001583	missense	332							g.chr17:76219780C>T																												ENST00000600484.1:c.500G>A	17.37:g.76219780C>T	ENSP00000473193:p.Ser167Asn					BIRC5_ENST00000374948.2_3'UTR|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000301633.4_3'UTR	p.S167N							5	499	-									Missense_Mutation	SNP	ENST00000600484.1	37	c.500G>A																																																																																					0.493	AC087645.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	5	0	0	0	6.4e-05	0	3	5				
OR52N1	79473	broad.mit.edu	37	11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5809698G>C	ENST00000317078.1	-	1	348	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(349-351)Ctc>Gtc		olfactory receptor, family 52, subfamily N, member 1							162.0	143.0	149.0					11																	5809698		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809698G>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.349C>G	11.37:g.5809698G>C	ENSP00000322823:p.Leu117Val					TRIM5_ENST00000380027.1_Intron	p.L117V	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	348	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	117					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.349C>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116913	0.77323	.	.	ENSG00000181001	ENST00000317078	T	0.06449	3.3	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000456	T	0.41396	0.1157	H	0.97918	4.105	0.41040	D	0.985226	D	0.89917	1.0	D	0.91635	0.999	T	0.64495	-0.6394	10	0.87932	D	0	.	16.492	0.84203	0.0:0.0:1.0:0.0	.	117	Q8NH53	O52N1_HUMAN	V	117	ENSP00000322823:L117V	ENSP00000322823:L117V	L	-	1	0	OR52N1	5766274	0.436000	0.25586	1.000000	0.80357	0.959000	0.62525	1.056000	0.30480	2.528000	0.85240	0.609000	0.83330	CTC		0.498	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		22	77	0	0	0	0.00332997	0	22	77				
PSTPIP1	9051	broad.mit.edu	37	15	77310547	77310547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:77310547G>A	ENST00000558012.1	+	2	584	c.95G>A	c.(94-96)gGc>gAc	p.G32D	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G31D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G32D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G32D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	32	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTCTGGATGGCAGGAAGATG	0.627																																						ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(94-96)gGc>gAc		proline-serine-threonine phosphatase interacting protein 1							30.0	37.0	34.0					15																	77310547		2144	4242	6386	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77310547G>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.95G>A	15.37:g.77310547G>A	ENSP00000452746:p.Gly32Asp					PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G32D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G31D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G32D	p.G32D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN			2	584	+			32			FCH.		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.95G>A	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380141	0.82682	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.23147	1.92;2.12	4.28	4.28	0.50868	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67015	-0.5777	10	0.87932	D	0	-18.5385	15.8717	0.79127	0.0:0.0:1.0:0.0	.	32;31;32;32	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	32;31	ENSP00000368914:G32D;ENSP00000267939:G31D	ENSP00000267939:G31D	G	+	2	0	PSTPIP1	75097602	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.493000	0.81493	2.101000	0.63845	0.436000	0.28706	GGC		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		4	6	0	0	0	0.00024832	0	4	6				
COX7A2	1347	broad.mit.edu	37	6	75947582	75947582	+	3'UTR	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:75947582T>C	ENST00000230459.4	-	0	509				COX7A2_ENST00000472311.2_Nonstop_Mutation_p.*77W|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						CGGTTATTTATCAGATTACTG	0.418																																						ENST00000472311.2																			0				kidney(2)|lung(1)	3						c.(229-231)tgA>tgG		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							44.0	42.0	43.0					6																	75947582		692	1591	2283	SO:0001624	3_prime_UTR_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75947582T>C	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.*64A>G	6.37:g.75947582T>C						COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000230459.4_3'UTR|COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR	p.*77W			P14406	CX7A2_HUMAN			3	281	-			0					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Nonstop_Mutation	SNP	ENST00000230459.4	37	c.231A>G		.	.	.	.	.	.	.	.	.	.	T	6.620	0.482812	0.12581	.	.	ENSG00000112695	ENST00000472311	.	.	.	4.9	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0082	0.03481	0.1558:0.0887:0.3229:0.4326	.	.	.	.	W	77	.	.	X	-	3	0	COX7A2	76004302	0.147000	0.22687	0.006000	0.13384	0.274000	0.26718	1.008000	0.29872	0.788000	0.33755	0.533000	0.62120	TGA		0.418	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		6	15	0	0	0	0.00116845	0	6	15				
RFX6	222546	broad.mit.edu	37	6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:117237221C>A	ENST00000332958.2	+	8	847	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCTGGACAATGCAATTA	0.343																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(829-831)gaC>gaA		regulatory factor X, 6							126.0	124.0	125.0					6																	117237221		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237221C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.831C>A	6.37:g.117237221C>A	ENSP00000332208:p.Asp277Glu					RFX6_ENST00000471966.1_3'UTR	p.D277E	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			8	847	+			277					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.831C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198455	0.79015	.	.	ENSG00000185002	ENST00000332958	T	0.59083	0.29	5.75	3.34	0.38264	.	0.094859	0.64402	D	0.000001	T	0.65354	0.2683	M	0.71871	2.18	0.49687	D	0.999811	D	0.89917	1.0	D	0.76071	0.987	T	0.70821	-0.4768	10	0.87932	D	0	-20.3689	11.8332	0.52307	0.0:0.8069:0.0:0.1931	.	277	Q8HWS3	RFX6_HUMAN	E	277	ENSP00000332208:D277E	ENSP00000332208:D277E	D	+	3	2	RFX6	117343914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	1.179000	0.42884	0.585000	0.79938	GAC		0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		13	52	1	0	5.50884e-06	0.00136819	2.20805e-05	13	52				
T	6862	broad.mit.edu	37	6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:166571825G>T	ENST00000296946.2	-	9	1754	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	T_ENST00000366871.3_Missense_Mutation_p.P371H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	429					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1285-1287)cCt>cAt		T, brachyury homolog (mouse)							130.0	134.0	133.0					6																	166571825		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571825G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1286C>A	6.37:g.166571825G>T	ENSP00000296946:p.Pro429His					T_ENST00000366871.3_Missense_Mutation_p.P371H	p.P429H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1754	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	429					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1286C>A	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788325	0.16258	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84442	-1.79;-1.85	4.77	3.89	0.44902	.	0.388697	0.25747	N	0.028566	T	0.71600	0.3359	L	0.54323	1.7	0.20926	N	0.99982	B;B;B	0.26635	0.078;0.03;0.155	B;B;B	0.21151	0.024;0.027;0.033	T	0.67719	-0.5598	10	0.62326	D	0.03	.	14.4083	0.67099	0.0:0.1487:0.8513:0.0	.	371;429;371	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	H	429;429;371	ENSP00000296946:P429H;ENSP00000355836:P371H	ENSP00000296946:P429H	P	-	2	0	T	166491815	1.000000	0.71417	0.020000	0.16555	0.159000	0.22180	5.386000	0.66238	1.099000	0.41499	-0.165000	0.13383	CCT		0.612	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		14	158	1	0	1.05317e-09	0.00244969	4.36441e-09	14	158				
RP11-24M17.5	0	broad.mit.edu	37	15	76074702	76074702	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:76074702G>C	ENST00000395215.3	+	0	774				RN7SL319P_ENST00000480656.2_RNA																							CCGGTGGCAGGAGAGGATGTG	0.488																																						ENST00000395215.3																			0																																																			0							g.chr15:76074702G>C																													15.37:g.76074702G>C														0	774	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	0.572	-0.840702	0.02692	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	-0.552	0.11818	.	.	.	.	.	T	0.16471	0.0396	.	.	.	.	.	.	B	0.14012	0.009	B	0.17722	0.019	T	0.41840	-0.9486	6	0.02654	T	1	.	6.5853	0.22616	0.0:0.3986:0.6014:0.0	.	245	B4DZE6	.	Q	245	.	ENSP00000378641:E245Q	E	+	1	0	AC019294.2	73861757	1.000000	0.71417	0.041000	0.18516	0.003000	0.03518	0.910000	0.28571	-0.109000	0.12044	-1.029000	0.02412	GAG		0.488	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	120	0	0	0	0.000602214	0	4	120				
BTLA	151888	broad.mit.edu	37	3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:112198458C>A	ENST00000334529.5	-	2	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	83	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(247-249)Gaa>Taa		B and T lymphocyte associated							174.0	166.0	169.0					3																	112198458		2203	4300	6503	SO:0001587	stop_gained	151888				T cell costimulation		receptor activity	g.chr3:112198458C>A	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.247G>T	3.37:g.112198458C>A	ENSP00000333919:p.Glu83*					BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	p.E83*	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	449	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	83			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Nonsense_Mutation	SNP	ENST00000334529.5	37	c.247G>T	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024025	0.54683	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	.	.	.	3.27	0.276	0.15663	.	1.814990	0.02970	N	0.144279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.7286	1.7739	0.03017	0.2125:0.4581:0.2069:0.1225	.	.	.	.	X	83	.	ENSP00000333919:E83X	E	-	1	0	BTLA	113681148	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.421000	0.02455	0.049000	0.15920	0.655000	0.94253	GAA		0.408	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		21	96	1	0	1.50039e-11	0.00188189	6.32492e-11	21	96				
KCNMB1	3779	broad.mit.edu	37	5	169810824	169810824	+	Silent	SNP	C	C	A	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr5:169810824C>A	ENST00000274629.4	-	3	607	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	55					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TGGTCTCAATCAGGTGGCACT	0.567																																						ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(163-165)ctG>ctT		potassium large conductance calcium-activated channel, subfamily M, beta member 1		C	,	2,4404	4.2+/-10.8	0,2,2201	113.0	87.0	96.0		,165	4.7	1.0	5	dbSNP_134	96	0,8600		0,0,4300	no	intron,coding-synonymous	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	,	,55/192	169810824	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169810824C>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.165G>T	5.37:g.169810824C>A						KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron	p.L55L	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	3	607	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	55					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.165G>T	CCDS4373.1																																																																																				0.567	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			8	16	1	0	5.18039e-06	0.00307968	2.09356e-05	8	16				
JADE1	79960	broad.mit.edu	37	4	129776938	129776938	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:129776938C>T	ENST00000226319.6	+	7	1130	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000413543.2_Silent_p.L284L|PHF17_ENST00000512960.1_Silent_p.L284L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGCTGTGCTCTGTGGATCCC	0.512																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(850-852)Ctg>Ttg									127.0	123.0	124.0					4																	129776938		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129776938C>T																												ENST00000226319.6:c.850C>T	4.37:g.129776938C>T						PHF17_ENST00000413543.2_Silent_p.L284L|PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L	p.L284L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			7	1130	+			284						Silent	SNP	ENST00000226319.6	37	c.850C>T	CCDS34062.1																																																																																				0.512	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	32	0	0	0	0.00307968	0	8	32				
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:131233667C>T	ENST00000434106.3	+	6	864	c.501C>T	c.(499-501)caC>caT	p.H167H	ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000393527.3_Silent_p.H143H|ODF2_ENST00000604420.1_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H|ODF2_ENST00000351030.3_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372814.3_Silent_p.H211H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(427-429)caC>caT		outer dense fiber of sperm tails 2							179.0	157.0	164.0					9																	131233667		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131233667C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.501C>T	9.37:g.131233667C>T						RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H	p.H143H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			8	1014	+			167					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.429C>T	CCDS56588.1																																																																																				0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			32	41	0	0	0	0.00209593	0	32	41				
LCNL1	401562	broad.mit.edu	37	9	139879316	139879316	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:139879316C>T	ENST00000408973.2	+	3	942	c.348C>T	c.(346-348)ttC>ttT	p.F116F	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	116																	ACCCCCGCTTCGGGTCTGGGA	0.692																																						ENST00000408973.2																			0											c.(346-348)ttC>ttT		lipocalin-like 1							12.0	16.0	15.0					9																	139879316		1939	4080	6019	SO:0001819	synonymous_variant	401562						binding	g.chr9:139879316C>T		CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"""Lipocalins"""	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.348C>T	9.37:g.139879316C>T						LCNL1_ENST00000432827.1_Intron	p.F116F	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN			3	942	+			116						Silent	SNP	ENST00000408973.2	37	c.348C>T	CCDS43908.1																																																																																				0.692	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356128.1	NM_207510		4	1	0	0	0	0.00024832	0	4	1				
LOC653786	653786	broad.mit.edu	37	16	22588015	22588015	+	RNA	SNP	A	A	G	rs460493	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:22588015A>G	ENST00000550753.1	+	0	2490					NR_003676.2																						TGGCCTGAGCACATCGTCCTG	0.557													G|||	7	0.00139776	0.0015	0.0	5008	,	,		24848	0.004		0.0	False		,,,				2504	0.001					ENST00000550753.1																			0																																																			653786							g.chr16:22588015A>G																													16.37:g.22588015A>G								NR_003676.2						0	2490	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.557	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	110	0	0	0	0.000978159	0	4	110				
ZRSR2	8233	broad.mit.edu	37	X	15809058	15809058	+	Splice_Site	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:15809058C>A	ENST00000307771.7	+	2	67	c.43C>A	c.(43-45)Cac>Aac	p.H15N	ZRSR2_ENST00000380308.3_Splice_Site_p.H15N|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	15					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCTTCCAGCCACAAAAAGTA	0.512			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.e2-1		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							64.0	59.0	61.0					X																	15809058		2203	4300	6503	SO:0001630	splice_region_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15809058C>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.42-1C>A	X.37:g.15809058C>A						ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice|ZRSR2_ENST00000468028.1_3'UTR	p.H15_splice	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			2	67	+	Hepatocellular(33;0.183)		15					Q14D69	Splice_Site	SNP	ENST00000307771.7	37	c.41_splice	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269843	0.40095	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	T	0.01295	5.04	5.03	4.16	0.48862	.	0.114518	0.64402	D	0.000016	T	0.02418	0.0074	M	0.77103	2.36	0.27493	N	0.952219	B	0.33694	0.421	B	0.26969	0.075	T	0.26189	-1.0110	10	0.62326	D	0.03	.	8.866	0.35286	0.0:0.8928:0.0:0.1072	.	15	Q15696	U2AFM_HUMAN	N	15	ENSP00000369664:H15N	ENSP00000303015:H15N	H	+	1	0	ZRSR2	15718979	1.000000	0.71417	0.988000	0.46212	0.866000	0.49608	3.689000	0.54706	1.039000	0.40074	0.436000	0.28706	CAC		0.512	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	Missense_Mutation	12	18	1	0	3.07112e-06	0.000978159	1.25148e-05	12	18				
ANO8	57719	broad.mit.edu	37	19	17436103	17436103	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:17436103G>A	ENST00000159087.4	-	17	2912	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	918					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTCCCGCCGGGCATGGTGCT	0.697																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2752-2754)gcC>gcT		anoctamin 8							27.0	29.0	28.0					19																	17436103		2203	4297	6500	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17436103G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2754C>T	19.37:g.17436103G>A							p.A918A	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	2912	-			918					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2754C>T	CCDS32949.1																																																																																				0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		15	32	0	0	0	0.000566183	0	15	32				
HTR1F	3355	broad.mit.edu	37	3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:88040372C>T	ENST00000319595.4	+	1	527	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTATGCCTCCTCTATTCTGG	0.408																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(472-474)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						68.0	66.0	67.0					3																	88040372		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040372C>T	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.473C>T	3.37:g.88040372C>T	ENSP00000322924:p.Pro158Leu						p.P158L	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	527	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	158						Missense_Mutation	SNP	ENST00000319595.4	37	c.473C>T	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010893	0.75046	.	.	ENSG00000179097	ENST00000319595	T	0.38240	1.15	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60219	-0.7306	10	0.62326	D	0.03	.	16.1173	0.81314	0.0:1.0:0.0:0.0	.	158	P30939	5HT1F_HUMAN	L	158	ENSP00000322924:P158L	ENSP00000322924:P158L	P	+	2	0	HTR1F	88123062	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.783000	0.85696	2.410000	0.81850	0.460000	0.39030	CCT		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		23	23	0	0	0	0.00188189	0	23	23				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	49	0	0	0	6.4e-05	0	3	49				
IGHM	3507	broad.mit.edu	37	14	106320515	106320515	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:106320515G>A	ENST00000390559.2	-	0	1294							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTTACCGGTGGACTTGTCCAC	0.642																																						ENST00000390559.2																			0																				107.0	115.0	112.0					14																	106320515		2109	4196	6305			3507							g.chr14:106320515G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320515G>A														0	1294	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.642	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		6	94	0	0	0	0.00198382	0	6	94				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	57	0	0	0	6.4e-05	0	3	57				
BCAS3	54828	broad.mit.edu	37	17	59115269	59115269	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:59115269A>G	ENST00000390652.5	+	19	1858	c.1827A>G	c.(1825-1827)gtA>gtG	p.V609V	BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588874.1_Silent_p.V365V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Silent_p.V594V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1780-1782)gtA>gtG		breast carcinoma amplified sequence 3							260.0	268.0	266.0					17																	59115269		2042	4193	6235	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59115269A>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1827A>G	17.37:g.59115269A>G						BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000588874.1_Silent_p.V365V|RP11-264B14.1_ENST00000588604.1_RNA	p.V594V			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		18	1850	+			609						Silent	SNP	ENST00000390652.5	37	c.1782A>G	CCDS45749.1																																																																																				0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		4	267	0	0	0	0.00024832	0	4	267				
C1orf168	199920	broad.mit.edu	37	1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:57257788C>T	ENST00000343433.6	-	2	778	c.698G>A	c.(697-699)aGc>aAc	p.S233N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	233										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTTGCCGGGCTCCTCTCAGG	0.532																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(697-699)aGc>aAc		chromosome 1 open reading frame 168							61.0	68.0	66.0					1																	57257788		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57257788C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.698G>A	1.37:g.57257788C>T	ENSP00000345972:p.Ser233Asn					C1orf168_ENST00000484327.1_5'UTR	p.S233N	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			2	778	-			233					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.698G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653504	0.29425	.	.	ENSG00000187889	ENST00000343433	T	0.35973	1.28	3.91	-0.382	0.12481	.	0.710705	0.13298	N	0.398444	T	0.20700	0.0498	L	0.34521	1.04	0.09310	N	1	B;P	0.35872	0.077;0.525	B;B	0.30495	0.025;0.116	T	0.11203	-1.0597	10	0.54805	T	0.06	-0.4363	4.592	0.12312	0.0:0.4414:0.3503:0.2082	.	233;233	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	N	233	ENSP00000345972:S233N	ENSP00000345972:S233N	S	-	2	0	C1orf168	57030376	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.589000	0.05767	-0.044000	0.13491	0.563000	0.77884	AGC		0.532	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		38	80	0	0	0	0.000953801	0	38	80				
SLC22A14	9389	broad.mit.edu	37	3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:38347632C>T	ENST00000273173.4	+	1	206	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C|RNU6-235P_ENST00000362644.1_RNA	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.R39C(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537													C|||	11	0.00219649	0.0	0.0	5008	,	,		22777	0.0		0.0	False		,,,				2504	0.0112					ENST00000273173.4																			1	Substitution - Missense(1)	p.R39C(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(115-117)Cgc>Tgc		solute carrier family 22, member 14		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	186.0	165.0	172.0		115	0.4	0.0	3	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC22A14	NM_004803.3	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	39/595	38347632	2,13004	2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347632C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.115C>T	3.37:g.38347632C>T	ENSP00000273173:p.Arg39Cys					SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C	p.R39C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	1	206	+			39					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.115C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340971	0.41498	2.27E-4	1.16E-4	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36699	1.24;1.24	4.33	0.366	0.16136	.	6.492390	0.00622	N	0.000455	T	0.38453	0.1041	M	0.67953	2.075	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.30504	-0.9976	10	0.87932	D	0	.	4.6289	0.12491	0.1632:0.5766:0.0:0.2602	.	39	Q9Y267	S22AE_HUMAN	C	39	ENSP00000396283:R39C;ENSP00000273173:R39C	ENSP00000273173:R39C	R	+	1	0	SLC22A14	38322636	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.251000	0.18257	0.049000	0.15920	-0.140000	0.14226	CGC		0.537	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		10	80	0	0	0	0.000673444	0	10	80				
CPNE4	131034	broad.mit.edu	37	3	131254048	131254048	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:131254048T>C	ENST00000512055.1	-	20	3791	c.1665A>G	c.(1663-1665)ctA>ctG	p.L555L	CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000429747.1_Silent_p.L555L|CPNE4_ENST00000503204.1_5'UTR			Q96A23	CPNE4_HUMAN	copine IV	555						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCATGGTGCTAGTGTTCTGG	0.368																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1663-1665)ctA>ctG		copine IV							135.0	121.0	126.0					3																	131254048		2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131254048T>C	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1665A>G	3.37:g.131254048T>C						CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L	p.L555L			Q96A23	CPNE4_HUMAN			20	3791	-			555					D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.1665A>G	CCDS3072.1																																																																																				0.368	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		16	47	0	0	0	0.000566183	0	16	47				
MYH2	4620	broad.mit.edu	37	17	10440764	10440764	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:10440764G>C	ENST00000245503.5	-	16	2067	c.1683C>G	c.(1681-1683)ggC>ggG	p.G561G	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.G561G|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	561	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAGACTTGCCCAGGTGCT	0.517																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1681-1683)ggC>ggG		myosin, heavy chain 2, skeletal muscle, adult							121.0	120.0	120.0					17																	10440764		2203	4298	6501	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440764G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1683C>G	17.37:g.10440764G>C						CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|MYH2_ENST00000532183.1_Silent_p.G561G|CTC-297N7.7_ENST00000587182.1_RNA	p.G561G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2067	-			561			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1683C>G	CCDS11156.1																																																																																				0.517	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	127	0	0	0	0.00448238	0	7	127				
DACT1	51339	broad.mit.edu	37	14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:59112758G>A	ENST00000335867.4	+	4	1441	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	DACT1_ENST00000395153.3_Missense_Mutation_p.E436K|DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	473					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGACAGGGGAGTCCCCTAA	0.612																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1306-1308)Gag>Aag		dishevelled-binding antagonist of beta-catenin 1							53.0	62.0	59.0					14																	59112758		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112758G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1417G>A	14.37:g.59112758G>A	ENSP00000337439:p.Glu473Lys					DACT1_ENST00000335867.4_Missense_Mutation_p.E473K|DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K	p.E436K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1453	+			473					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1306G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	8.717	0.913484	0.17907	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.60424	0.92;0.92;0.19;0.19;0.92	5.35	5.35	0.76521	.	0.268407	0.37053	N	0.002280	T	0.46698	0.1406	L	0.49126	1.545	0.31522	N	0.662288	P;P	0.43352	0.804;0.804	B;B	0.39152	0.292;0.292	T	0.51293	-0.8724	10	0.07175	T	0.84	-23.8803	12.417	0.55500	0.0772:0.0:0.9228:0.0	.	436;473	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	192;192;436;473;192	ENSP00000451598:E192K;ENSP00000378581:E192K;ENSP00000378582:E436K;ENSP00000337439:E473K;ENSP00000442850:E192K	ENSP00000337439:E473K	E	+	1	0	DACT1	58182511	1.000000	0.71417	0.320000	0.25306	0.035000	0.12851	4.442000	0.59988	2.519000	0.84933	0.563000	0.77884	GAG		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		26	68	0	0	0	0.00395357	0	26	68				
IL26	55801	broad.mit.edu	37	12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:68595690T>G	ENST00000229134.4	-	5	515	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	151					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(451-453)Aaa>Caa		interleukin 26							57.0	61.0	60.0					12																	68595690		2199	4294	6493	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68595690T>G	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.451A>C	12.37:g.68595690T>G	ENSP00000229134:p.Lys151Gln					IFNG-AS1_ENST00000536914.1_RNA	p.K151Q	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	5	515	-			151						Missense_Mutation	SNP	ENST00000229134.4	37	c.451A>C	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731666	0.48939	.	.	ENSG00000111536	ENST00000229134	D	0.88431	-2.38	5.39	4.21	0.49690	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000017	D	0.91683	0.7371	M	0.63843	1.955	0.27531	N	0.951101	D	0.58620	0.983	D	0.66847	0.947	D	0.85020	0.0911	9	.	.	.	-18.233	8.5715	0.33572	0.0:0.0895:0.0:0.9105	.	151	Q9NPH9	IL26_HUMAN	Q	151	ENSP00000229134:K151Q	.	K	-	1	0	IL26	66881957	1.000000	0.71417	0.952000	0.39060	0.384000	0.30261	2.694000	0.47035	0.952000	0.37798	0.460000	0.39030	AAA		0.274	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		9	37	0	0	0	0.000442599	0	9	37				
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A	rs550777059		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:95645720C>A	ENST00000436874.1	+	2	146	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(40-42)tCt>tAt		vezatin, adherens junctions transmembrane protein							138.0	133.0	135.0					12																	95645720		1838	4069	5907	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645720C>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.41C>A	12.37:g.95645720C>A	ENSP00000410083:p.Ser14Tyr					VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR	p.S14Y	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	146	+			14					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.41C>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186506	0.78789	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000397796	T;T;T	0.64260	1.47;0.14;-0.09	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000001	T	0.78610	0.4310	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.79783	-0.1658	10	0.87932	D	0	-33.6395	17.7302	0.88375	0.0:1.0:0.0:0.0	.	14;14	C9J154;Q9HBM0	.;VEZA_HUMAN	Y	14;14;33;14	ENSP00000410083:S14Y;ENSP00000449591:S14Y;ENSP00000449701:S33Y	ENSP00000380898:S14Y	S	+	2	0	VEZT	94169851	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.719000	0.68462	2.721000	0.93114	0.655000	0.94253	TCT		0.363	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		19	58	1	0	1.01871e-10	0.00121646	4.2577e-10	19	58				
SERBP1	26135	broad.mit.edu	37	1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:67889975T>C	ENST00000370995.2	-	5	811	c.726A>G	c.(724-726)atA>atG	p.I242M	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	242					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						AATTATAAGATATTTGTTTCT	0.363																																						ENST00000370995.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(724-726)atA>atG		SERPINE1 mRNA binding protein 1							82.0	84.0	83.0					1																	67889975		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67889975T>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.726A>G	1.37:g.67889975T>C	ENSP00000360034:p.Ile242Met					SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron	p.I242M			Q8NC51	PAIRB_HUMAN			5	811	-			242					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.726A>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765152	0.31228	.	.	ENSG00000142864	ENST00000370995;ENST00000370990	.	.	.	5.33	1.9	0.25705	Hyaluronan/mRNA-binding protein (1);	0.685804	0.14758	N	0.300178	T	0.07683	0.0193	N	0.08118	0	0.25968	N	0.98253	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.36237	-0.9756	9	0.33141	T	0.24	-11.2844	8.0241	0.30427	0.0:0.4228:0.0:0.5772	.	299;242	D3DQ70;Q8NC51	.;PAIRB_HUMAN	M	242;236	.	ENSP00000360029:I236M	I	-	3	3	SERBP1	67662563	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.498000	0.22530	0.058000	0.16222	0.455000	0.32223	ATA		0.363	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		21	46	0	0	0	0.00188189	0	21	46				
SMAD1	4086	broad.mit.edu	37	4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:146435852G>A	ENST00000515385.1	+	2	629	c.87G>A	c.(85-87)tgG>tgA	p.W29*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*			Q15797	SMAD1_HUMAN	SMAD family member 1	29	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(85-87)tgG>tgA		SMAD family member 1							89.0	85.0	86.0					4																	146435852		2203	4300	6503	SO:0001587	stop_gained	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146435852G>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.87G>A	4.37:g.146435852G>A	ENSP00000426568:p.Trp29*					SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|SMAD1_ENST00000515527.1_3'UTR	p.W29*			Q15797	SMAD1_HUMAN			2	629	+	all_hematologic(180;0.151)		29			MH1.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Nonsense_Mutation	SNP	ENST00000515385.1	37	c.87G>A	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623273	0.96660	.	.	ENSG00000170365	ENST00000514778;ENST00000507594;ENST00000514831;ENST00000302085;ENST00000512019;ENST00000503324;ENST00000394092;ENST00000515385	.	.	.	5.04	5.04	0.67666	.	0.052903	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7439	0.91785	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000305769:W29X	W	+	3	0	SMAD1	146655302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.494000	0.84150	0.655000	0.94253	TGG		0.443	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		4	49	0	0	0	0.000602214	0	4	49				
OR51B2	79345	broad.mit.edu	37	11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5345445G>A	ENST00000328813.2	-	1	137	c.83C>T	c.(82-84)cCc>cTc	p.P28L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P28L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000328813.2																			1	Substitution - Missense(1)	p.P28L(1)	biliary_tract(1)	NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(82-84)cCc>cTc		olfactory receptor, family 51, subfamily B, member 2							89.0	79.0	83.0					11																	5345445		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345445G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.83C>T	11.37:g.5345445G>A	ENSP00000327540:p.Pro28Leu		OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	625	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.P28L	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	137	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	28					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.83C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499427	0.44455	.	.	ENSG00000184881	ENST00000328813	T	0.00325	8.1	4.28	4.28	0.50868	.	0.251816	0.20797	U	0.085505	T	0.00210	0.0006	L	0.28504	0.86	0.43065	D	0.994696	B	0.20368	0.044	B	0.22386	0.039	T	0.81406	-0.0947	10	0.44086	T	0.13	.	15.6397	0.76989	0.0:0.0:1.0:0.0	.	28	Q9Y5P1	O51B2_HUMAN	L	28	ENSP00000327540:P28L	ENSP00000327540:P28L	P	-	2	0	OR51B2	5302021	0.059000	0.20769	0.994000	0.49952	0.958000	0.62258	0.711000	0.25764	2.251000	0.74343	0.644000	0.83932	CCC		0.502	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		12	37	0	0	0	0.00136819	0	12	37				
SPRYD3	84926	broad.mit.edu	37	12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:53460181C>T	ENST00000301463.4	-	10	1197	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttccccttcctGGTGCAGG	0.572											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1111-1113)Gaa>Aaa		SPRY domain containing 3							199.0	152.0	168.0					12																	53460181		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460181C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1111G>A	12.37:g.53460181C>T	ENSP00000301463:p.Glu371Lys		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	p.E371K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			10	1197	-			371			Glu-rich.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1111G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999779	0.74818	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.123644	0.52532	D	0.000066	T	0.43942	0.1270	N	0.22421	0.69	0.51482	D	0.999924	B	0.24186	0.099	B	0.21917	0.037	T	0.30149	-0.9988	9	0.23891	T	0.37	.	15.8978	0.79346	0.0:1.0:0.0:0.0	.	371	Q8NCJ5	SPRY3_HUMAN	K	371;408	.	ENSP00000301463:E371K	E	-	1	0	SPRYD3	51746448	0.977000	0.34250	1.000000	0.80357	0.989000	0.77384	4.630000	0.61297	2.419000	0.82065	0.651000	0.88453	GAA		0.572	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		10	54	0	0	0	0.000442599	0	10	54				
KIF17	57576	broad.mit.edu	37	1	21013938	21013938	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:21013938G>A	ENST00000247986.2	-	8	2191	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	627					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1879-1881)tcC>tcT		kinesin family member 17							97.0	90.0	92.0					1																	21013938		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21013938G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1881C>T	1.37:g.21013938G>A						KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S	p.S627S			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	2191	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	627					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1881C>T	CCDS213.1																																																																																				0.637	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		34	72	0	0	0	0.00428921	0	34	72				
LGR6	59352	broad.mit.edu	37	1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:202249913T>G	ENST00000367278.3	+	6	738	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	217					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCAGGCATTTGCATAACAA	0.562																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(649-651)Ttg>Gtg		leucine-rich repeat containing G protein-coupled receptor 6							140.0	122.0	128.0					1																	202249913		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202249913T>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.649T>G	1.37:g.202249913T>G	ENSP00000356247:p.Leu217Val					LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000308543.3_3'UTR	p.L217V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			6	738	+			217					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.649T>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009115	0.75046	.	.	ENSG00000133067	ENST00000367278;ENST00000255432	T;T	0.74842	-0.88;-0.88	4.87	3.95	0.45737	.	0.000000	0.64402	D	0.000001	D	0.85986	0.5825	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87033	0.2136	10	0.87932	D	0	.	11.0535	0.47905	0.0:0.9065:0.0:0.0935	.	165;217	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	V	217;165	ENSP00000356247:L217V;ENSP00000255432:L165V	ENSP00000255432:L165V	L	+	1	2	LGR6	200516536	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.215000	0.58534	1.025000	0.39708	-0.366000	0.07423	TTG		0.562	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		30	64	0	0	0	0.00178596	0	30	64				
XCR1	2829	broad.mit.edu	37	3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:46062445A>G	ENST00000309285.3	-	2	1351	c.995T>C	c.(994-996)tTc>tCc	p.F332S	XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	332					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(994-996)tTc>tCc		chemokine (C motif) receptor 1							18.0	18.0	18.0					3																	46062445		2202	4300	6502	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062445A>G		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.995T>C	3.37:g.46062445A>G	ENSP00000310405:p.Phe332Ser					XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1351	-			332						Missense_Mutation	SNP	ENST00000309285.3	37	c.995T>C	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028279	0.35797	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.67171	-0.25;-0.25	5.73	5.73	0.89815	.	0.265266	0.33127	N	0.005244	T	0.48502	0.1503	N	0.08118	0	0.30426	N	0.777625	P	0.35272	0.493	B	0.32928	0.155	T	0.58825	-0.7568	10	0.66056	D	0.02	.	16.0173	0.80450	1.0:0.0:0.0:0.0	.	332	P46094	XCR1_HUMAN	S	332	ENSP00000310405:F332S;ENSP00000438119:F332S	ENSP00000310405:F332S	F	-	2	0	XCR1	46037449	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	2.522000	0.45572	2.181000	0.69327	0.533000	0.62120	TTC		0.642	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			12	5	0	0	0	0.00185496	0	12	5				
MCM3AP	8888	broad.mit.edu	37	21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr21:47660924T>C	ENST00000397708.1	-	27	5688	c.5434A>G	c.(5434-5436)Ata>Gta	p.I1812V	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1812					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5434-5436)Ata>Gta		minichromosome maintenance complex component 3 associated protein							142.0	128.0	133.0					21																	47660924		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47660924T>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5434A>G	21.37:g.47660924T>C	ENSP00000380820:p.Ile1812Val					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000590829.1_RNA	p.I1812V			O60318	MCM3A_HUMAN			27	5688	-	Breast(49;0.112)		1812					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5434A>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	7.369	0.626407	0.14257	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03301	3.98;3.98	5.58	1.95	0.26073	.	1.254190	0.05162	N	0.497947	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.15484	0.001;0.013	T	0.49163	-0.8968	10	0.10636	T	0.68	-0.2991	7.5642	0.27868	0.0:0.2238:0.0:0.7762	.	1812;307	O60318;B3KT88	MCM3A_HUMAN;.	V	1812;1812;307	ENSP00000380820:I1812V;ENSP00000291688:I1812V	ENSP00000291688:I1812V	I	-	1	0	MCM3AP	46485352	0.258000	0.24033	0.211000	0.23655	0.334000	0.28698	0.410000	0.21098	0.093000	0.17368	-0.263000	0.10527	ATA		0.388	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		46	86	0	0	0	0.00361006	0	46	86				
DMRT3	58524	broad.mit.edu	37	9	990054	990054	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:990054A>G	ENST00000190165.2	+	2	506	c.468A>G	c.(466-468)gaA>gaG	p.E156E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	156					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(466-468)gaA>gaG		doublesex and mab-3 related transcription factor 3							61.0	66.0	65.0					9																	990054		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990054A>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.468A>G	9.37:g.990054A>G							p.E156E	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	506	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	156					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.468A>G	CCDS6443.1																																																																																				0.478	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		10	79	0	0	0	0.000978159	0	10	79				
LOC101927905	101927905	broad.mit.edu	37	12	8388253	8388253	+	lincRNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:8388253G>A	ENST00000304751.9	+	0	243				FAM86FP_ENST00000427893.2_RNA																							AGAGGGTGGCGTCCCATGTGA	0.622																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8388253G>A																													12.37:g.8388253G>A						FAM86FP_ENST00000427893.2_RNA								0	243	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.622	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			9	28	0	0	0	0.000442599	0	9	28				
DONSON	29980	broad.mit.edu	37	21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr21:34958441C>T	ENST00000303071.5	-	3	515	c.449G>A	c.(448-450)aGt>aAt	p.S150N	DONSON_ENST00000453626.1_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAACTCAGTACTTTTTGAGGA	0.398											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(448-450)aGt>aAt		downstream neighbor of SON							73.0	64.0	67.0					21																	34958441		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34958441C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.449G>A	21.37:g.34958441C>T	ENSP00000307143:p.Ser150Asn		OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N	p.S150N			Q9NYP3	DONS_HUMAN			3	453	-			150					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.449G>A	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.923|2.923	-0.222653|-0.222653	0.06061|0.06061	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000437395	.|.	.|.	.|.	5.56|5.56	2.8|2.8	0.32819|0.32819	.|.	0.546198|.	0.23204|.	N|.	0.050746|.	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19331|.	0.011;0.035;0.011|.	B;B;B|.	0.18561|.	0.015;0.022;0.015|.	T|T	0.22800|0.22800	-1.0206|-1.0206	9|5	0.35671|.	T|.	0.21|.	-0.2123|-0.2123	8.5991|8.5991	0.33734|0.33734	0.1111:0.6953:0.0:0.1936|0.1111:0.6953:0.0:0.1936	.|.	150;150;150|.	F8W8A5;C9J4K5;Q9NYP3|.	.;.;DONS_HUMAN|.	N|I	150|121	.|.	ENSP00000307143:S150N|.	S|V	-|-	2|1	0|0	DONSON|DONSON	33880311|33880311	0.003000|0.003000	0.15002|0.15002	0.046000|0.046000	0.18839|0.18839	0.040000|0.040000	0.13550|0.13550	0.826000|0.826000	0.27407|0.27407	0.066000|0.066000	0.16515|0.16515	-2.325000|-2.325000	0.00251|0.00251	AGT|GTA		0.398	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		9	39	0	0	0	0.00448238	0	9	39				
GUCY1A3	2982	broad.mit.edu	37	4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:156634710A>T	ENST00000296518.7	+	7	1756	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	516	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1546-1548)cAg>cTg		guanylate cyclase 1, soluble, alpha 3							48.0	42.0	44.0					4																	156634710		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634710A>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1547A>T	4.37:g.156634710A>T	ENSP00000296518:p.Gln516Leu					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L	p.Q516L			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1756	+	all_hematologic(180;0.24)	Renal(120;0.0854)	516			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1547A>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759482	0.49468	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000014	T	0.48390	0.1497	N	0.01446	-0.86	0.58432	D	0.999999	P;P	0.43094	0.799;0.799	B;B	0.42495	0.389;0.389	T	0.61133	-0.7124	10	0.02654	T	1	.	16.1081	0.81237	1.0:0.0:0.0:0.0	.	516;516	B3KU69;Q02108	.;GCYA3_HUMAN	L	516;516;516;516;258;516;516	ENSP00000424361:Q516L;ENSP00000421493:Q516L;ENSP00000426968:Q516L;ENSP00000412201:Q516L;ENSP00000377418:Q258L;ENSP00000296518:Q516L;ENSP00000426040:Q516L	ENSP00000296518:Q516L	Q	+	2	0	GUCY1A3	156854160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.194000	0.70268	0.533000	0.62120	CAG		0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			6	37	0	0	0	0.00198382	0	6	37				
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:43777690G>A	ENST00000389420.3	-	30	4542	c.4543C>T	c.(4543-4545)Cag>Tag	p.Q1515*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507																																						ENST00000389420.3																			1	Substitution - Nonsense(1)	p.Q1515*(1)	large_intestine(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4543-4545)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 20							158.0	125.0	136.0					12																	43777690		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777690G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4543C>T	12.37:g.43777690G>A	ENSP00000374071:p.Gln1515*						p.Q1515*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4542	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1515			TSP type-1 12.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.4543C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	43	9.881666	0.99286	.	.	ENSG00000173157	ENST00000389420	.	.	.	4.25	-0.0478	0.13841	.	1.405700	0.04843	N	0.440846	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.073	0.09891	0.073:0.2605:0.3982:0.2683	.	.	.	.	X	1515	.	ENSP00000374071:Q1515X	Q	-	1	0	ADAMTS20	42063957	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	0.491000	0.22419	-0.003000	0.14444	0.655000	0.94253	CAG		0.507	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	64	0	0	0	0.00152264	0	22	64				
ZNF224	7767	broad.mit.edu	37	19	44610697	44610697	+	Silent	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:44610697T>A	ENST00000336976.6	+	6	638	c.384T>A	c.(382-384)ggT>ggA	p.G128G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(382-384)ggT>ggA		zinc finger protein 224							92.0	90.0	91.0					19																	44610697		2203	4300	6503	SO:0001819	synonymous_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610697T>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.384T>A	19.37:g.44610697T>A						AC084219.4_ENST00000592946.1_RNA	p.G128G	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	638	+		Prostate(69;0.0435)	128					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	c.384T>A	CCDS33046.1																																																																																				0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		10	63	0	0	0	0.000978159	0	10	63				
FIGN	55137	broad.mit.edu	37	2	164466120	164466120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:164466120G>A	ENST00000333129.3	-	3	2536	c.2222C>T	c.(2221-2223)tCt>tTt	p.S741F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	741					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCCTTTTGAGATATGCTAGG	0.393																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(2221-2223)tCt>tTt		fidgetin							62.0	61.0	62.0					2																	164466120		1882	4114	5996	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466120G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2222C>T	2.37:g.164466120G>A	ENSP00000333836:p.Ser741Phe					FIGN_ENST00000409634.1_Intron	p.S741F	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2536	-			741					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.2222C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223852	0.58668	.	.	ENSG00000182263	ENST00000333129	D	0.98792	-5.14	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.89658	3.05	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.99187	1.0869	10	0.87932	D	0	-14.9479	20.5373	0.99239	0.0:0.0:1.0:0.0	.	741	Q5HY92	FIGN_HUMAN	F	741	ENSP00000333836:S741F	ENSP00000333836:S741F	S	-	2	0	FIGN	164174366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	TCT		0.393	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		42	64	0	0	0	0.00222228	0	42	64				
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R|HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398																																						ENST00000296503.5																			1	Substitution - Missense(1)	p.K90R(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(268-270)aAg>aGg		high mobility group box 2							222.0	233.0	229.0					4																	174254247		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254247T>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.269A>G	4.37:g.174254247T>C	ENSP00000296503:p.Lys90Arg					HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R	p.K90R			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	1142	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	90					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.269A>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451760	0.43531	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.06	5.06	0.68205	High mobility group, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.96883	0.8982	M	0.81802	2.56	0.58432	D	0.99999	P	0.48350	0.909	D	0.65987	0.94	D	0.96930	0.9680	10	0.51188	T	0.08	.	14.1447	0.65344	0.0:0.0:0.0:1.0	.	90	P26583	HMGB2_HUMAN	R	90	ENSP00000296503:K90R;ENSP00000393448:K90R;ENSP00000404912:K90R;ENSP00000423001:K90R	ENSP00000296503:K90R	K	-	2	0	HMGB2	174490822	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.626000	0.83164	2.122000	0.65172	0.460000	0.39030	AAG		0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		3	166	0	0	0	6.4e-05	0	3	166				
NCR2	9436	broad.mit.edu	37	6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:41309847G>A	ENST00000373089.5	+	4	692	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NCR2_ENST00000373083.4_Missense_Mutation_p.V202I|NCR2_ENST00000373086.3_Missense_Mutation_p.V214I	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V202I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					ENST00000373083.4																			1	Substitution - Missense(1)	p.V202I(1)	endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(604-606)Gta>Ata		natural cytotoxicity triggering receptor 2		G	ILE/VAL,ILE/VAL,ILE/VAL	15,4391	23.3+/-48.9	0,15,2188	150.0	129.0	136.0		640,604,604	-4.5	0.0	6	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	NCR2	NM_001199509.1,NM_001199510.1,NM_004828.3	29,29,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	benign,benign,benign	214/271,202/259,202/277	41309847	16,12990	2203	4300	6503	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41309847G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.604G>A	6.37:g.41309847G>A	ENSP00000362181:p.Val202Ile					NCR2_ENST00000373089.5_Missense_Mutation_p.V202I|NCR2_ENST00000373086.3_Missense_Mutation_p.V214I	p.V202I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			4	826	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		202					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.604G>A	CCDS4855.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	5.109	0.205748	0.09704	0.003404	1.16E-4	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.14516	2.6;2.75;2.5	2.27	-4.46	0.03536	.	.	.	.	.	T	0.01489	0.0048	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31054	0.306;0.306;0.134	B;B;B	0.25884	0.064;0.064;0.029	T	0.43245	-0.9403	9	0.05525	T	0.97	.	8.3628	0.32369	0.1253:0.6563:0.2184:0.0	.	202;214;202	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	I	202;202;214	ENSP00000362175:V202I;ENSP00000362181:V202I;ENSP00000362178:V214I	ENSP00000362175:V202I	V	+	1	0	NCR2	41417825	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-2.617000	0.00881	-1.302000	0.02335	-0.499000	0.04595	GTA		0.622	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			41	93	0	0	0	0.00148497	0	41	93				
CBR4	84869	broad.mit.edu	37	4	169927999	169927999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169927999G>T	ENST00000306193.3	-	3	475	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(307-309)Cag>Aag		carbonyl reductase 4							191.0	190.0	190.0					4																	169927999		2203	4300	6503	SO:0001583	missense	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169927999G>T	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.307C>A	4.37:g.169927999G>T	ENSP00000303525:p.Gln103Lys					CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K	p.Q103K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	475	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	103					Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	c.307C>A	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535502	0.64972	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.87334	-2.24;-2.24;-2.24	5.87	5.87	0.94306	NAD(P)-binding domain (1);	0.458965	0.23534	N	0.047155	D	0.84229	0.5426	L	0.41492	1.28	0.35503	D	0.799959	P	0.40250	0.709	B	0.39027	0.288	D	0.85499	0.1190	9	.	.	.	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	103	Q8N4T8	CBR4_HUMAN	K	103;103;100	ENSP00000303525:Q103K;ENSP00000427615:Q103K;ENSP00000423128:Q100K	.	Q	-	1	0	CBR4	170164574	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.191000	0.65110	2.775000	0.95449	0.650000	0.86243	CAG		0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		7	148	1	0	0.000274275	0.00448238	0.00108162	7	148				
HUS1B	135458	broad.mit.edu	37	6	656505	656505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:656505G>A	ENST00000380907.2	-	1	458	c.440C>T	c.(439-441)cCg>cTg	p.P147L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(439-441)cCg>cTg		HUS1 checkpoint homolog b (S. pombe)																																				SO:0001583	missense	135458							g.chr6:656505G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.440C>T	6.37:g.656505G>A	ENSP00000370293:p.Pro147Leu					EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.P147L	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	458	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	147					Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	c.440C>T	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639979	0.29157	.	.	ENSG00000188996	ENST00000380907	T	0.11169	2.8	3.32	0.8	0.18672	.	0.323589	0.26086	U	0.026429	T	0.02012	0.0063	L	0.29908	0.895	0.25003	N	0.991455	B	0.02656	0.0	B	0.04013	0.001	T	0.42241	-0.9463	10	0.54805	T	0.06	.	3.8537	0.08967	0.2091:0.0:0.2292:0.5617	.	147	Q8NHY5	HUS1B_HUMAN	L	147	ENSP00000370293:P147L	ENSP00000370293:P147L	P	-	2	0	HUS1B	601505	0.531000	0.26338	0.002000	0.10522	0.002000	0.02628	0.890000	0.28295	0.055000	0.16094	-1.334000	0.01262	CCG		0.716	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		22	40	0	0	0	0.00229938	0	22	40				
FBXO8	26269	broad.mit.edu	37	4	175162340	175162340	+	Silent	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:175162340G>T	ENST00000393674.2	-	4	1348	c.486C>A	c.(484-486)atC>atA	p.I162I	FBXO8_ENST00000503293.1_Silent_p.I121I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	162	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(484-486)atC>atA		F-box protein 8							110.0	106.0	107.0					4																	175162340		2203	4297	6500	SO:0001819	synonymous_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175162340G>T	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.486C>A	4.37:g.175162340G>T						FBXO8_ENST00000503293.1_Silent_p.I121I	p.I162I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	4	1348	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	162			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.486C>A	CCDS3820.1																																																																																				0.323	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		17	37	1	0	6.49762e-13	0.00074312	2.7629e-12	17	37				
RBPJL	11317	broad.mit.edu	37	20	43945404	43945404	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:43945404C>A	ENST00000343694.3	+	12	1431	c.1359C>A	c.(1357-1359)atC>atA	p.I453I	RBPJL_ENST00000372741.3_Missense_Mutation_p.H457N|RBPJL_ENST00000372743.1_Silent_p.I452I|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	453	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697																																						ENST00000372741.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1369-1371)Cac>Aac		recombination signal binding protein for immunoglobulin kappa J region-like							25.0	32.0	29.0					20																	43945404		2203	4300	6503	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945404C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1359C>A	20.37:g.43945404C>A						RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I|RBPJL_ENST00000343694.3_Silent_p.I453I	p.H457N			Q9UBG7	RBPJL_HUMAN			12	1441	+		Myeloproliferative disorder(115;0.0122)	0			IPT/TIG.		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.1369C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720429	0.30503	.	.	ENSG00000124232	ENST00000372741	T	0.58210	0.35	5.62	3.36	0.38483	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.29785	0.107	T	0.50659	-0.8802	8	0.87932	D	0	-25.6645	10.8114	0.46549	0.0:0.8265:0.0:0.1735	.	457	Q5QPV1	.	N	457	ENSP00000361826:H457N	ENSP00000361826:H457N	H	+	1	0	RBPJL	43378818	1.000000	0.71417	0.975000	0.42487	0.738000	0.42128	1.805000	0.38883	1.393000	0.46605	0.549000	0.68633	CAC		0.697	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		30	39	1	0	2.36697e-06	0.00127121	9.72647e-06	30	39				
BMP8B	656	broad.mit.edu	37	1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:40228830C>A	ENST00000372827.3	-	6	1368	c.993G>T	c.(991-993)gaG>gaT	p.E331D	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	331					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(991-993)gaG>gaT		bone morphogenetic protein 8b							197.0	154.0	169.0					1																	40228830		2203	4300	6503	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228830C>A	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.993G>T	1.37:g.40228830C>A	ENSP00000361915:p.Glu331Asp					PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	p.E331D	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1368	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	331					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.993G>T	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437603	0.12104	.	.	ENSG00000116985	ENST00000372827	D	0.84370	-1.84	3.75	-0.657	0.11432	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.381500	0.25726	U	0.028711	T	0.61949	0.2388	N	0.20445	0.575	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.52881	-0.8516	10	0.02654	T	1	.	0.1481	0.00090	0.3025:0.2449:0.1488:0.3038	.	331	P34820	BMP8B_HUMAN	D	331	ENSP00000361915:E331D	ENSP00000361915:E331D	E	-	3	2	BMP8B	40001417	0.178000	0.23122	0.990000	0.47175	0.989000	0.77384	-0.547000	0.06055	-0.367000	0.08052	0.561000	0.74099	GAG		0.632	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		6	83	1	0	0.00198382	0.00198382	0.0077607	6	83				
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(193-195)tgC>tgT		platelet endothelial aggregation receptor 1							36.0	40.0	39.0					1																	156874633		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156874633C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.195C>T	1.37:g.156874633C>T						PEAR1_ENST00000292357.7_Silent_p.C65C	p.C65C			Q5VY43	PEAR1_HUMAN			4	420	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		65			EMI.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.195C>T	CCDS30892.1																																																																																				0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		12	54	0	0	0	0.00136819	0	12	54				
TTN	7273	broad.mit.edu	37	2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:179595727C>T	ENST00000591111.1	-	58	16938	c.16714G>A	c.(16714-16716)Gat>Aat	p.D5572N	TTN_ENST00000589042.1_Missense_Mutation_p.D5889N|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12389	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCACTATCTTTCTTTTCT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17665-17667)Gat>Aat		titin							172.0	170.0	171.0					2																	179595727		1864	4101	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595727C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16714G>A	2.37:g.179595727C>T	ENSP00000465570:p.Asp5572Asn					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N	p.D5889N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	17889	-			5572			Ig-like 40.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17665G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.599779	0.46318	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92779	0.7704	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.93807	0.7106	9	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	5572	Q8WZ42	TITIN_HUMAN	N	4645	ENSP00000343764:D4645N	ENSP00000343764:D4645N	D	-	1	0	TTN	179303972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	GAT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		87	179	0	0	0	0.00361006	0	87	179				
IFNA13	3447	broad.mit.edu	37	9	21367983	21367983	+	Silent	SNP	C	C	T	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:21367983C>T	ENST00000449498.1	-	1	92	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	8					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547																																						ENST00000449498.1																			0				breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9						c.(25-27)ctG>ctA		interferon, alpha 13		C		2,4402	4.2+/-10.8	0,2,2200	84.0	92.0	89.0		27	1.5	0.0	9	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFNA13	NM_006900.3		0,4,6498	TT,TC,CC		0.0233,0.0454,0.0308		9/191	21367983	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	3447				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21367983C>T		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.27G>A	9.37:g.21367983C>T							p.L9L	NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	92	-			8					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Silent	SNP	ENST00000449498.1	37	c.27G>A	CCDS6505.2																																																																																				0.547	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		78	49	0	0	0	0.00361006	0	78	49				
CIB1	10519	broad.mit.edu	37	15	90771407	90771407	+	IGR	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:90771407A>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.Q682H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607																																						ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(2044-2046)caA>caT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							91.0	95.0	94.0					15																	90771407		2126	4226	6352	SO:0001628	intergenic_variant	10509							g.chr15:90771407A>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771407A>T						SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H	p.Q682H	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2306	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2046A>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.338748	0.24253	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.22134	1.97;2.18;1.97	4.54	-7.88	0.01178	.	1.131140	0.06358	N	0.711118	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44380	0.834;0.472;0.472	B;B;B	0.43889	0.435;0.252;0.308	T	0.17806	-1.0357	10	0.46703	T	0.11	.	0.8003	0.01074	0.2824:0.2106:0.2998:0.2072	.	677;682;677	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	H	682;677;682	ENSP00000332204:Q682H;ENSP00000368417:Q677H;ENSP00000394720:Q682H	ENSP00000332204:Q682H	Q	+	3	2	SEMA4B	88572411	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.119000	0.03276	-1.241000	0.02526	0.459000	0.35465	CAA		0.607	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			5	17	0	0	0	0.00116845	0	5	17				
CBR4	84869	broad.mit.edu	37	4	169928000	169928000	+	Silent	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169928000A>T	ENST00000306193.3	-	3	474	c.306T>A	c.(304-306)tcT>tcA	p.S102S	CBR4_ENST00000509108.1_5'Flank|CBR4_ENST00000504480.1_Silent_p.S102S|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	102					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TATGAAGCTGAGATACCATAT	0.368																																						ENST00000306193.3																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(304-306)tcT>tcA		carbonyl reductase 4							190.0	189.0	189.0					4																	169928000		2203	4300	6503	SO:0001819	synonymous_variant	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169928000A>T	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.306T>A	4.37:g.169928000A>T						CBR4_ENST00000504480.1_Silent_p.S102S	p.S102S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	3	474	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	102					Q8WTW8|Q96K93	Silent	SNP	ENST00000306193.3	37	c.306T>A	CCDS3812.1																																																																																				0.368	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		8	146	0	0	0	0.00448238	0	8	146				
DNAH6	1768	broad.mit.edu	37	2	84784958	84784958	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:84784958A>G	ENST00000237449.6	+	10	1710	c.1702A>G	c.(1702-1704)Att>Gtt	p.I568V	DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V|DNAH6_ENST00000389394.3_Missense_Mutation_p.I568V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	568	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGCCCTTATATTAACAACAA	0.368																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1702-1704)Att>Gtt		dynein, axonemal, heavy chain 6							123.0	120.0	121.0					2																	84784958		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784958A>G	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1702A>G	2.37:g.84784958A>G	ENSP00000237449:p.Ile568Val					DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V|DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V	p.I568V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1839	+			568			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1702A>G	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794205	0.50102	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24538	1.85;1.96;1.85	5.09	3.93	0.45458	.	0.000000	0.52532	D	0.000070	T	0.44435	0.1293	M	0.70275	2.135	0.29461	N	0.857779	B;D	0.71674	0.138;0.998	B;D	0.67382	0.05;0.951	T	0.39121	-0.9629	10	0.33940	T	0.23	.	10.0803	0.42386	0.9187:0.0:0.0813:0.0	.	568;147	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	568	ENSP00000374045:I568V;ENSP00000381326:I568V;ENSP00000237449:I568V	ENSP00000237449:I568V	I	+	1	0	DNAH6	84638469	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	4.292000	0.59031	0.782000	0.33613	-0.378000	0.06908	ATT		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		21	79	0	0	0	0.00152264	0	21	79				
RIMS4	140730	broad.mit.edu	37	20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:43386376T>A	ENST00000372851.3	-	4	452	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(385-387)cAg>cTg		regulating synaptic membrane exocytosis 4							129.0	104.0	112.0					20																	43386376		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386376T>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.386A>T	20.37:g.43386376T>A	ENSP00000361942:p.Gln129Leu					RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	p.Q129L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	452	-		Myeloproliferative disorder(115;0.0122)	129			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.386A>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468799	0.43839	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.78126	-1.15;-1.15	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.181464	0.49916	D	0.000133	T	0.75860	0.3907	M	0.68317	2.08	0.51233	D	0.999914	B;B	0.20550	0.046;0.005	B;B	0.15052	0.012;0.005	T	0.70956	-0.4731	10	0.24483	T	0.36	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	130;129	E1P613;Q9H426	.;RIMS4_HUMAN	L	129;130	ENSP00000361942:Q129L;ENSP00000439287:Q130L	ENSP00000361942:Q129L	Q	-	2	0	RIMS4	42819790	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.048000	0.64238	2.261000	0.74972	0.533000	0.62120	CAG		0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		73	68	0	0	0	0.00361006	0	73	68				
SLC17A9	63910	broad.mit.edu	37	20	61598792	61598792	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:61598792C>A	ENST00000370351.4	+	13	1382	c.1251C>A	c.(1249-1251)acC>acA	p.T417T	SLC17A9_ENST00000370349.3_Silent_p.T411T|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	417					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTGTGCACCTTCCTGGTGT	0.607																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(1231-1233)acC>acA		solute carrier family 17 (vesicular nucleotide transporter), member 9							155.0	169.0	164.0					20																	61598792		2080	4202	6282	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61598792C>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1251C>A	20.37:g.61598792C>A						SLC17A9_ENST00000370351.4_Silent_p.T417T|SLC17A9_ENST00000488738.1_3'UTR	p.T411T			Q9BYT1	S17A9_HUMAN			14	1437	+			417					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.1233C>A	CCDS42901.1																																																																																				0.607	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		50	152	1	0	4.01344e-20	0.00361006	1.7523e-19	50	152				
NOL3	8996	broad.mit.edu	37	16	67208838	67208838	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:67208838G>A	ENST00000568146.1	+	3	653	c.600G>A	c.(598-600)acG>acA	p.T200T	NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000432069.2_Missense_Mutation_p.E204K|KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	200					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.657																																						ENST00000432069.2																			0				ovary(1)	1						c.(610-612)Gag>Aag		nucleolar protein 3 (apoptosis repressor with CARD domain)							45.0	55.0	52.0					16																	67208838		2038	4211	6249	SO:0001819	synonymous_variant	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208838G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.600G>A	16.37:g.67208838G>A						NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K|NOL3_ENST00000568146.1_Silent_p.T200T	p.E204K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1182	+		Ovarian(137;0.192)	0					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.610G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	g	17.76	3.469712	0.63625	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.41065	1.01;1.01	4.71	3.49	0.39957	.	4.536870	0.00567	N	0.000285	T	0.25232	0.0613	.	.	.	0.09310	N	1	P	0.43352	0.804	B	0.22880	0.042	T	0.33394	-0.9870	9	0.66056	D	0.02	-37.0431	5.8717	0.18807	0.1795:0.0:0.8205:0.0	.	266	B4DFL0	.	K	204	ENSP00000399831:E204K;ENSP00000268605:E204K	ENSP00000268605:E204K	E	+	1	0	NOL3	65766339	0.155000	0.22806	0.035000	0.18076	0.249000	0.25844	2.528000	0.45624	2.324000	0.78689	0.457000	0.33378	GAG		0.657	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			22	36	0	0	0	0.00278032	0	22	36				
DCAF7	10238	broad.mit.edu	37	17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:61661062G>A	ENST00000310827.4	+	6	944	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	243					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CATGGCCATGGATGGAATGGA	0.537																																						ENST00000310827.4																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(727-729)Gat>Aat		DDB1 and CUL4 associated factor 7							70.0	71.0	71.0					17																	61661062		2105	4222	6327	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61661062G>A	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.727G>A	17.37:g.61661062G>A	ENSP00000308344:p.Asp243Asn					DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR	p.D243N	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN			6	944	+			243					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.727G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.558713	0.86231	.	.	ENSG00000136485	ENST00000310827	T	0.71461	-0.57	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	.	.	.	0.80722	D	1	P	0.36438	0.553	B	0.40134	0.32	T	0.72994	-0.4122	9	0.52906	T	0.07	-24.3483	19.1338	0.93418	0.0:0.0:1.0:0.0	.	243	P61962	DCAF7_HUMAN	N	243	ENSP00000308344:D243N	ENSP00000308344:D243N	D	+	1	0	DCAF7	59014794	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GAT		0.537	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		13	38	0	0	0	0.00136819	0	13	38				
HLA-DMA	3108	broad.mit.edu	37	6	32917064	32917064	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:32917064C>T	ENST00000374843.4	-	4	850	c.765G>A	c.(763-765)cgG>cgA	p.R255R	HLA-DMA_ENST00000395303.3_Silent_p.R221R|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.R160R	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						AGCAAGGCTTCCGGAAGTAGA	0.567																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(763-765)cgG>cgA		major histocompatibility complex, class II, DM alpha							88.0	86.0	87.0					6																	32917064		2203	4300	6503	SO:0001819	synonymous_variant	3108					integral to membrane|MHC class II protein complex		g.chr6:32917064C>T		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.765G>A	6.37:g.32917064C>T						XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Silent_p.R160R|HLA-DMA_ENST00000395303.3_Silent_p.R221R	p.R255R	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			4	850	-			255					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.765G>A	CCDS4761.1																																																																																				0.567	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		20	44	0	0	0	0.00121646	0	20	44				
DNAH10	196385	broad.mit.edu	37	12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:124416356G>T	ENST00000409039.3	+	74	12761	c.12736G>T	c.(12736-12738)Gtg>Ttg	p.V4246L	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAACAAGCTTGTGGTCCGGAT	0.542																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12736-12738)Gtg>Ttg		dynein, axonemal, heavy chain 10							116.0	114.0	114.0					12																	124416356		2007	4185	6192	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416356G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12736G>T	12.37:g.124416356G>T	ENSP00000386770:p.Val4246Leu					DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	p.V4246L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12761	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4246					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12736G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	6.830	0.522245	0.13066	.	.	ENSG00000197653	ENST00000409039	T	0.05786	3.39	5.46	2.17	0.27698	Dynein heavy chain (1);	0.722754	0.13106	N	0.413367	T	0.02193	0.0068	N	0.03891	-0.335	0.09310	N	0.99999	B	0.12630	0.006	B	0.15052	0.012	T	0.47560	-0.9108	10	0.07990	T	0.79	.	3.8992	0.09152	0.2084:0.4946:0.297:0.0	.	4246	Q8IVF4	DYH10_HUMAN	L	4246	ENSP00000386770:V4246L	ENSP00000386770:V4246L	V	+	1	0	DNAH10	122982309	0.099000	0.21834	0.002000	0.10522	0.233000	0.25261	1.661000	0.37408	0.647000	0.30713	-0.165000	0.13383	GTG		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	84	1	0	7.72975e-29	0.00283554	3.40527e-28	33	84				
PLXND1	23129	broad.mit.edu	37	3	129324754	129324754	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:129324754C>T	ENST00000324093.4	-	1	907	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PLXND1_ENST00000393239.1_Silent_p.L243L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCGCGTGTCCAGGGAGCGGA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(727-729)ctG>ctA		plexin D1							42.0	42.0	42.0					3																	129324754		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324754C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.729G>A	3.37:g.129324754C>T						PLXND1_ENST00000324093.4_Silent_p.L243L	p.L243L			Q9Y4D7	PLXD1_HUMAN			1	907	-			243			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.729G>A	CCDS33854.1																																																																																				0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		12	18	0	0	0	0.00185496	0	12	18				
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373																																						ENST00000336184.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)ccT>ccC		TNF receptor-associated factor 5							114.0	103.0	107.0					1																	211534067		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534067T>C	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C						TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000261464.5_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron	p.P189P	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	6	627	+			189					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.567T>C	CCDS1497.1																																																																																				0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		3	40	0	0	0	0.00024832	0	3	40				
GAS2L3	283431	broad.mit.edu	37	12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:101018469C>T	ENST00000539410.1	+	9	2272	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.P525L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAAACTGCACCGAAGTCAGCA	0.527																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1573-1575)cCg>cTg		growth arrest-specific 2 like 3							94.0	83.0	87.0					12																	101018469		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101018469C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1886C>T	12.37:g.101018469C>T	ENSP00000439672:p.Pro629Leu					GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L	p.P525L			Q86XJ1	GA2L3_HUMAN			10	2528	+			629					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1574C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678424	0.29783	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.71	-2.12	0.07165	.	1.522320	0.03567	N	0.228029	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.37526	-0.9702	10	0.59425	D	0.04	0.3116	0.8897	0.01252	0.2369:0.3159:0.2365:0.2106	.	629	Q86XJ1	GA2L3_HUMAN	L	629;629;525;629	ENSP00000266754:P629L;ENSP00000448955:P629L;ENSP00000442406:P525L;ENSP00000439672:P629L	ENSP00000266754:P629L	P	+	2	0	GAS2L3	99542600	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.431000	0.06965	0.049000	0.15920	0.591000	0.81541	CCG		0.527	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		20	56	0	0	0	0.00121646	0	20	56				
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2152-2154)Ggg>Agg		transient receptor potential cation channel, subfamily V, member 6							78.0	77.0	77.0					7																	142569486		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569486C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2152G>A	7.37:g.142569486C>T	ENSP00000352358:p.Gly718Arg						p.G718R	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			15	2397	-	Melanoma(164;0.059)		718					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2152G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917637	0.17982	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.56941	0.43	5.02	2.04	0.26737	.	0.953396	0.08758	N	0.898093	T	0.52191	0.1719	M	0.66939	2.045	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.46541	-0.9184	10	0.51188	T	0.08	-3.9733	11.4605	0.50208	0.4745:0.5255:0.0:0.0	.	718	Q9H1D0	TRPV6_HUMAN	R	718;550	ENSP00000352358:G718R	ENSP00000310825:G550R	G	-	1	0	TRPV6	142279608	0.001000	0.12720	0.025000	0.17156	0.302000	0.27658	1.177000	0.31969	0.090000	0.17273	-0.310000	0.09108	GGG		0.527	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		26	76	0	0	0	0.000878237	0	26	76				
CNTRL	11064	broad.mit.edu	37	9	123904513	123904513	+	Silent	SNP	A	A	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:123904513A>C	ENST00000373855.1	+	19	3096	c.2836A>C	c.(2836-2838)Aga>Cga	p.R946R	CNTRL_ENST00000373850.1_Silent_p.R394R|CNTRL_ENST00000238341.5_Silent_p.R946R|CNTRL_ENST00000373847.1_Silent_p.R394R			Q7Z7A1	CNTRL_HUMAN	centriolin	946					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAGAAGGAGAGAATTCTGGC	0.438																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(2836-2838)Aga>Cga		centriolin							49.0	49.0	49.0					9																	123904513		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123904513A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2836A>C	9.37:g.123904513A>C						CNTRL_ENST00000238341.5_Silent_p.R946R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000373850.1_Silent_p.R394R	p.R946R			Q7Z7A1	CNTRL_HUMAN			19	3096	+			946					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.2836A>C	CCDS35118.1																																																																																				0.438	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	28	0	0	0	0.00307968	0	8	28				
RPH3A	22895	broad.mit.edu	37	12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:113307745G>A	ENST00000389385.4	+	10	1194	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	233	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(697-699)Gtg>Atg		rabphilin 3A homolog (mouse)							76.0	76.0	76.0					12																	113307745		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307745G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.697G>A	12.37:g.113307745G>A	ENSP00000374036:p.Val233Met					RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M	p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1194	+			233			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.697G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.222976	0.22457	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.71	1.67	0.24075	.	0.612589	0.14781	N	0.298782	T	0.41419	0.1158	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.26902	0.163;0.007;0.007;0.029	B;B;B;B	0.15870	0.014;0.004;0.004;0.014	T	0.17410	-1.0370	10	0.28530	T	0.3	.	8.3292	0.32175	0.3459:0.0:0.6541:0.0	.	184;233;233;229	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	M	233;233;184;229;233;184;233	ENSP00000440384:V233M;ENSP00000374036:V233M;ENSP00000413254:V184M;ENSP00000448297:V229M;ENSP00000405357:V233M;ENSP00000450347:V184M;ENSP00000408889:V233M	ENSP00000374036:V233M	V	+	1	0	RPH3A	111792128	0.415000	0.25416	0.002000	0.10522	0.495000	0.33615	1.466000	0.35310	0.308000	0.22923	-0.136000	0.14681	GTG		0.612	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		24	63	0	0	0	0.00332997	0	24	63				
PLA2G4B	100137049	broad.mit.edu	37	15	42137429	42137429	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:42137429G>T	ENST00000452633.1	+	15	1620	c.1268G>T	c.(1267-1269)cGg>cTg	p.R423L	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R654L|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R423L|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R654L|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R654L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	423	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCAGATCAACGGGAGGCCCTG	0.592																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1960-1962)cGg>cTg									77.0	66.0	70.0					15																	42137429		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42137429G>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1268G>T	15.37:g.42137429G>T	ENSP00000396045:p.Arg423Leu					JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R423L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R423L|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R654L	p.R654L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			19	1970	+			423			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1961G>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.417886	0.62622	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.45	0.277	0.15668	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.194969	0.34750	N	0.003709	T	0.35393	0.0930	M	0.85373	2.75	0.32997	D	0.525684	D;P;D;D	0.76494	0.999;0.891;0.994;0.997	D;P;D;D	0.75484	0.986;0.457;0.915;0.932	T	0.49679	-0.8914	10	0.87932	D	0	-4.8991	9.382	0.38320	0.5323:0.0:0.4677:0.0	.	423;654;124;654	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	L	654;654;423;423	ENSP00000371886:R654L;ENSP00000342785:R654L;ENSP00000416610:R423L;ENSP00000396045:R423L	ENSP00000342785:R654L	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39924721	0.802000	0.28943	0.945000	0.38365	0.490000	0.33462	1.070000	0.30653	0.099000	0.17552	0.561000	0.74099	CGG		0.592	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		4	34	1	0	0.00024832	0.00024832	0.000987223	4	34				
DCN	1634	broad.mit.edu	37	12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:91550936C>G	ENST00000052754.5	-	5	1069	c.568G>C	c.(568-570)Gga>Cga	p.G190R	DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTTTCAATTCCTGAGCTCTTC	0.413																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(568-570)Gga>Cga		decorin							130.0	126.0	127.0					12																	91550936		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91550936C>G	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.568G>C	12.37:g.91550936C>G	ENSP00000052754:p.Gly190Arg					DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron	p.G190R	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			5	1069	-			190					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.568G>C	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031206	0.93575	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.56941	0.43;3.61;0.43;0.43;3.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78104	-0.2334	10	0.87932	D	0	.	20.1197	0.97955	0.0:1.0:0.0:0.0	.	190;81	P07585;P07585-2	PGS2_HUMAN;.	R	190;81;190;190;81	ENSP00000052754:G190R;ENSP00000228329:G81R;ENSP00000376862:G190R;ENSP00000447654:G190R;ENSP00000413723:G81R	ENSP00000052754:G190R	G	-	1	0	DCN	90075067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.663000	0.68038	2.747000	0.94245	0.585000	0.79938	GGA		0.413	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		9	96	0	0	0	0.000673444	0	9	96				
PLD1	5337	broad.mit.edu	37	3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:171379875delT	ENST00000351298.4	-	20	2441	c.2315delA	c.(2314-2316)aacfs	p.N772fs	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000356327.5_Frame_Shift_Del_p.N734fs	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	772	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2200-2202)acfs		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						115.0	109.0	111.0					3																	171379875		2203	4300	6503	SO:0001589	frameshift_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171379875delT	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2315delA	3.37:g.171379875delT	ENSP00000342793:p.Asn772fs					PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000342215.6_3'UTR	p.N734fs	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		19	2271	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		772			Catalytic.			Frame_Shift_Del	DEL	ENST00000351298.4	37	c.2201delA	CCDS3216.1																																																																																				0.458	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		16	77						16	77	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:30551996_30551997insC	ENST00000326195.8	+	13	1242_1243	c.1130_1131insC	c.(1129-1134)gtccagfs	p.Q378fs	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.Q340fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	378	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACACCAGCAGTCCAGGCTGTTC	0.55																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1129-1131)gcafs		ATP-binding cassette, sub-family F (GCN20), member 1																																				SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30551996_30551997insC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1132dupC	6.37:g.30551998_30551998dupC	ENSP00000313603:p.Gln378fs					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs	p.A377fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			13	1242_1243	+			377			ABC transporter 1.		A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	c.1130_1131insC	CCDS34380.1																																																																																				0.550	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			17	52						17	52	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:158517350delA	ENST00000355585.4	+	27	4520	c.4445delA	c.(4444-4446)gaafs	p.E1482fs	SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs|SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1482					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(4444-4446)gafs		synaptojanin 2							36.0	39.0	38.0					6																	158517350		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158517350delA	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4445delA	6.37:g.158517350delA	ENSP00000347792:p.Glu1482fs					SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs	p.E1482fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4520	+			1482					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.4445delA	CCDS5254.1																																																																																				0.507	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			19	43						19	43	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG														0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			2	4						2	4	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		5	3						5	3	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70597919	70597920	+	Frame_Shift_Del	DEL	CG	CG	-	rs375405409		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:70597919_70597920delCG	ENST00000333538.5	+	1	765_766	c.131_132delCG	c.(130-132)ccgfs	p.P44fs		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	44					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGATCCGGCCGCGCGCCGAGG	0.678																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(130-132)cfs		Williams-Beuren syndrome chromosome region 17																																				SO:0001589	frameshift_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597919_70597920delCG	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.131_132delCG	7.37:g.70597923_70597924delCG	ENSP00000329654:p.Pro44fs						p.P44fs	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			1	765_766	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	44					Q8NFV9|Q9NTA8	Frame_Shift_Del	DEL	ENST00000333538.5	37	c.131_132delCG	CCDS5540.1																																																																																				0.678	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		16	32						16	32	---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82249069	82249069	+	Splice_Site	DEL	G	G	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr10:82249069delG	ENST00000429989.3	+	2	303	c.80delG	c.(79-81)tgg>tg	p.W27fs	TSPAN14_ENST00000481124.1_Splice_Site_p.W27fs|TSPAN14_ENST00000341863.6_Splice_Site_p.W27fs|TSPAN14_ENST00000372158.1_Splice_Site_p.W27fs|TSPAN14_ENST00000372156.1_Splice_Site_p.W27fs|TSPAN14_ENST00000372164.3_Splice_Site_p.W27fs	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	27					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.428																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.e2+1		tetraspanin 14							135.0	91.0	106.0					10																	82249069		2200	4292	6492	SO:0001630	splice_region_variant	81619					integral to membrane		g.chr10:82249069delG	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.81+1G>-	10.37:g.82249069delG						TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice	p.W27_splice	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		2	303	+			27					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Splice_Site	DEL	ENST00000429989.3	37	c.81_splice	CCDS7369.1																																																																																				0.428	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927	Frame_Shift_Del	2	4						2	4	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			4	4						4	4	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			374491							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-	rs1800899|rs369599972	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7576840_7576851delCAAGACTTAGTA	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(14)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Unknown(14)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(14)|p.0?(8)|p.I332fs*49(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|lung(3)|upper_aerodigestive_tract(2)|stomach(2)|breast(2)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9+1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576840_7576851delCAAGACTTAGTA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1TACTAAGTCTTG>-	17.37:g.7576840_7576851delCAAGACTTAGTA		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1126	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.472	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	17	40						17	40	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751864	+	In_Frame_Del	DEL	CACCAC	CACCAC	-	rs59627144|rs377654044	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7751859_7751864delCACCAC	ENST00000448097.2	+	11	2584_2589	c.2253_2258delCACCAC	c.(2251-2259)gtcaccacc>gtc	p.TT760del	KDM6B_ENST00000254846.5_In_Frame_Del_p.TT760del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	760	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccaccacc	0.65														750	0.14976	0.0068	0.255	5008	,	,		8183	0.2827		0.0686	False		,,,				2504	0.2147					ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2259)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751864delCACCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2258delCACCAC	17.37:g.7751865_7751870delCACCAC	ENSP00000412513:p.Thr760_Thr761del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VTT751del	p.VTT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2647	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2258delCACCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	39						7	39	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39876966	39876966	+	IGR	DEL	C	C	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:39876966delC	ENST00000314471.6	+	0	4519				PAF1_ENST00000221266.7_Intron|PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221265.3_Frame_Shift_Del_p.E422fs	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(1261-1263)agfs		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							207.0	176.0	187.0					19																	39876966		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39876966delC		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876966delC						PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	p.E422fs	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		14	1591	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		422			Glu-rich.		A5Z0M6|Q6P194	Frame_Shift_Del	DEL	ENST00000314471.6	37	c.1261delG	CCDS33020.1																																																																																				0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		35	239						35	239	---	---	---	---
NAPA	8775	broad.mit.edu	37	19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:47996389_47996390insG	ENST00000263354.3	-	6	761_762	c.462_463insC	c.(460-465)ggcgagfs	p.E155fs	NAPA_ENST00000593785.1_5'Flank|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.E116fs|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	155					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649																																					Ovarian(185;1135 2042 27703 31345 42493)	ENST00000263354.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11						c.(460-465)ggaggafs		N-ethylmaleimide-sensitive factor attachment protein, alpha																																				SO:0001589	frameshift_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47996389_47996390insG	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.463dupC	19.37:g.47996390_47996390dupG	ENSP00000263354:p.Glu155fs					NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA	p.G155fs	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	6	761_762	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	155					A8K879|Q96IK3|Q9BVJ3	Frame_Shift_Ins	INS	ENST00000263354.3	37	c.462_463insC	CCDS12702.1																																																																																				0.649	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		20	45						20	45	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:47855521_47855530delATGGAGAAAG	ENST00000371764.4	+	15	1825_1834	c.1816_1825delATGGAGAAAG	c.(1816-1827)atggagaaagatfs	p.MEKD606fs	ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.SFSI1245fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	606						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.M606I(1)|p.E607*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.486																																						ENST00000371754.4																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.M606I(1)|p.E607*(1)	lung(2)	cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3733-3744)ttfs		zinc finger, NFX1-type containing 1																																				SO:0001589	frameshift_variant	57169						metal ion binding	g.chr20:47855521_47855530delATGGAGAAAG	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1816_1825delATGGAGAAAG	20.37:g.47855521_47855530delATGGAGAAAG	ENSP00000360828:p.Met606fs					ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|DDX27_ENST00000484427.1_3'UTR	p.SFSI1245fs			Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		15	4187_4196	-			0					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.3734_3743delCTTTCTCCAT	CCDS13416.1																																																																																				0.486	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			14	45						14	45	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			387590							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:171379875delT	ENST00000351298.4	-	20	2441	c.2315delA	c.(2314-2316)aacfs	p.N772fs	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000356327.5_Frame_Shift_Del_p.N734fs	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	772	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2200-2202)acfs		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						115.0	109.0	111.0					3																	171379875		2203	4300	6503	SO:0001589	frameshift_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171379875delT	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2315delA	3.37:g.171379875delT	ENSP00000342793:p.Asn772fs					PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs	p.N734fs	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		19	2271	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		772			Catalytic.			Frame_Shift_Del	DEL	ENST00000351298.4	37	c.2201delA	CCDS3216.1																																																																																				0.458	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		16	77						16	77	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:30551996_30551997insC	ENST00000326195.8	+	13	1242_1243	c.1130_1131insC	c.(1129-1134)gtccagfs	p.Q378fs	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.Q340fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	378	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACACCAGCAGTCCAGGCTGTTC	0.55																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1129-1131)gcafs		ATP-binding cassette, sub-family F (GCN20), member 1																																				SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30551996_30551997insC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1132dupC	6.37:g.30551998_30551998dupC	ENSP00000313603:p.Gln378fs					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs	p.A377fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			13	1242_1243	+			377			ABC transporter 1.		A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	c.1130_1131insC	CCDS34380.1																																																																																				0.550	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			17	52						17	52	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:158517350delA	ENST00000355585.4	+	27	4520	c.4445delA	c.(4444-4446)gaafs	p.E1482fs	SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs|SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1482					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(4444-4446)gafs		synaptojanin 2							36.0	39.0	38.0					6																	158517350		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158517350delA	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4445delA	6.37:g.158517350delA	ENSP00000347792:p.Glu1482fs					SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs	p.E1482fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4520	+			1482					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.4445delA	CCDS5254.1																																																																																				0.507	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			19	43						19	43	---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82249069	82249069	+	Splice_Site	DEL	G	G	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr10:82249069delG	ENST00000429989.3	+	2	303	c.80delG	c.(79-81)tgg>tg	p.W27fs	TSPAN14_ENST00000481124.1_Splice_Site_p.W27fs|TSPAN14_ENST00000341863.6_Splice_Site_p.W27fs|TSPAN14_ENST00000372158.1_Splice_Site_p.W27fs|TSPAN14_ENST00000372156.1_Splice_Site_p.W27fs|TSPAN14_ENST00000372164.3_Splice_Site_p.W27fs	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	27					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.428																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.e2+1		tetraspanin 14							135.0	91.0	106.0					10																	82249069		2200	4292	6492	SO:0001630	splice_region_variant	81619					integral to membrane		g.chr10:82249069delG	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.81+1G>-	10.37:g.82249069delG						TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice	p.W27_splice	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		2	303	+			27					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Splice_Site	DEL	ENST00000429989.3	37	c.81_splice	CCDS7369.1																																																																																				0.428	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927	Frame_Shift_Del	2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-	rs1800899|rs369599972	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:7576840_7576851delCAAGACTTAGTA	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(14)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Unknown(14)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(14)|p.0?(8)|p.I332fs*49(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|lung(3)|upper_aerodigestive_tract(2)|stomach(2)|breast(2)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9+1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576840_7576851delCAAGACTTAGTA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1TACTAAGTCTTG>-	17.37:g.7576840_7576851delCAAGACTTAGTA		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1126	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.472	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	17	40						17	40	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39876966	39876966	+	IGR	DEL	C	C	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:39876966delC	ENST00000314471.6	+	0	4519				PAF1_ENST00000221266.7_Intron|PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221265.3_Frame_Shift_Del_p.E422fs	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(1261-1263)agfs		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							207.0	176.0	187.0					19																	39876966		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39876966delC		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876966delC						PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	p.E422fs	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		14	1591	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		422			Glu-rich.		A5Z0M6|Q6P194	Frame_Shift_Del	DEL	ENST00000314471.6	37	c.1261delG	CCDS33020.1																																																																																				0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		35	239						35	239	---	---	---	---
NAPA	8775	broad.mit.edu	37	19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:47996389_47996390insG	ENST00000263354.3	-	6	761_762	c.462_463insC	c.(460-465)ggcgagfs	p.E155fs	NAPA_ENST00000593785.1_5'Flank|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.E116fs|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	155					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649																																					Ovarian(185;1135 2042 27703 31345 42493)	ENST00000263354.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11						c.(460-465)ggaggafs		N-ethylmaleimide-sensitive factor attachment protein, alpha																																				SO:0001589	frameshift_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47996389_47996390insG	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.463dupC	19.37:g.47996390_47996390dupG	ENSP00000263354:p.Glu155fs					NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA	p.G155fs	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	6	761_762	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	155					A8K879|Q96IK3|Q9BVJ3	Frame_Shift_Ins	INS	ENST00000263354.3	37	c.462_463insC	CCDS12702.1																																																																																				0.649	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		20	45						20	45	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:47855521_47855530delATGGAGAAAG	ENST00000371764.4	+	15	1825_1834	c.1816_1825delATGGAGAAAG	c.(1816-1827)atggagaaagatfs	p.MEKD606fs	ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.SFSI1245fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	606						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.M606I(1)|p.E607*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.486																																						ENST00000371754.4																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.M606I(1)|p.E607*(1)	lung(2)	cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3733-3744)ttfs		zinc finger, NFX1-type containing 1																																				SO:0001589	frameshift_variant	57169						metal ion binding	g.chr20:47855521_47855530delATGGAGAAAG	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1816_1825delATGGAGAAAG	20.37:g.47855521_47855530delATGGAGAAAG	ENSP00000360828:p.Met606fs					DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR	p.SFSI1245fs			Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		15	4187_4196	-			0					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.3734_3743delCTTTCTCCAT	CCDS13416.1																																																																																				0.486	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			14	45						14	45	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			387590							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
