#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RPRD2	23248	broad.mit.edu	37	1	150429782	150429782	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:150429782A>T	ENST00000369068.4	+	8	893	c.889A>T	c.(889-891)Aac>Tac	p.N297Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.N271Y	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	297						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AACCTTTGCTAACCGAGTAAA	0.388																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(811-813)Aac>Tac		regulation of nuclear pre-mRNA domain containing 2							78.0	74.0	75.0					1																	150429782		1842	4094	5936	SO:0001583	missense	23248						protein binding	g.chr1:150429782A>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.889A>T	1.37:g.150429782A>T	ENSP00000358064:p.Asn297Tyr					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N297Y|RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y	p.N271Y			Q5VT52	RPRD2_HUMAN			7	876	+			297					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.811A>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182460	0.78677	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.53206	0.65;0.63;0.68	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.966;0.982;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-14.3141	15.4834	0.75545	1.0:0.0:0.0:0.0	.	271;297;271	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	271;271;297	ENSP00000383785:N271Y;ENSP00000445482:N271Y;ENSP00000358064:N297Y	ENSP00000358064:N297Y	N	+	1	0	RPRD2	148696406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.507000	0.90522	2.291000	0.77112	0.519000	0.50382	AAC		0.388	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		10	49	10	49	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155348170	155348170	+	Silent	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:155348170A>T	ENST00000368346.3	-	10	6888	c.6249T>A	c.(6247-6249)gtT>gtA	p.V2083V	ASH1L_ENST00000392403.3_Silent_p.V2078V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2083	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTTGACATCAACGTAGACAT	0.413																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6247-6249)gtT>gtA		ash1 (absent, small, or homeotic)-like (Drosophila)							150.0	146.0	147.0					1																	155348170		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155348170A>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6249T>A	1.37:g.155348170A>T						ASH1L_ENST00000392403.3_Silent_p.V2078V	p.V2083V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		10	6888	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2083					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.6249T>A																																																																																					0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		23	110	23	110	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222838751	222838751	+	Silent	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:222838751A>T	ENST00000344922.5	+	28	5539	c.5514A>T	c.(5512-5514)ggA>ggT	p.G1838G	MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344507.1_Intron|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344441.6_Silent_p.G1838G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1838	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTTTACCTGGACACGCACCAT	0.547																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5512-5514)ggA>ggT		melanoma inhibitory activity family, member 3							220.0	223.0	222.0					1																	222838751		1908	4120	6028	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838751A>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5514A>T	1.37:g.222838751A>T						MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000344507.1_Intron	p.G1838G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5539	+			1838			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5514A>T	CCDS41470.1																																																																																				0.547	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		17	301	17	301	---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179341804	179341804	+	Silent	SNP	T	T	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr3:179341804T>A	ENST00000259037.3	+	6	660	c.546T>A	c.(544-546)tcT>tcA	p.S182S	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000493866.1_Silent_p.S130S	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	182					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTGATCATTCTCCGAAAGCAA	0.333																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(388-390)tcT>tcA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						140.0	133.0	136.0					3																	179341804		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179341804T>A	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.546T>A	3.37:g.179341804T>A						NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000259037.3_Silent_p.S182S	p.S130S	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	415	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		182					Q561V6	Silent	SNP	ENST00000259037.3	37	c.390T>A	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	T	1.708	-0.499766	0.04291	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.17	2.66	0.31614	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42396	-0.9454	4	.	.	.	-8.9792	5.7745	0.18271	0.3172:0.0:0.145:0.5378	.	.	.	.	H	199	.	.	L	+	2	0	NDUFB5	180824498	0.304000	0.24472	1.000000	0.80357	0.101000	0.19017	0.469000	0.22067	0.248000	0.21435	0.523000	0.50628	CTC		0.333	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		7	129	7	129	---	---	---	---
TNFRSF10B	8795	broad.mit.edu	37	8	22886093	22886093	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:22886093C>T	ENST00000276431.4	-	5	783	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CAATCACCGACCTTGACCATC	0.567																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(499-501)Gtc>Atc		tumor necrosis factor receptor superfamily, member 10b							136.0	120.0	125.0					8																	22886093		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22886093C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.499G>A	8.37:g.22886093C>T	ENSP00000276431:p.Val167Ile					TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000519910.1_5'UTR	p.V167I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	5	783	-		Prostate(55;0.0421)|Breast(100;0.067)	167					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.499G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476713	0.44044	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.38077	1.16;1.16;1.16	4.41	0.218	0.15270	TNFR/CD27/30/40/95 cysteine-rich region (3);	.	.	.	.	T	0.38825	0.1055	L	0.49126	1.545	0.09310	N	1	D;P;P;P	0.67145	0.996;0.633;0.633;0.595	P;B;B;B	0.58266	0.836;0.24;0.171;0.343	T	0.20140	-1.0284	9	0.29301	T	0.29	.	1.8611	0.03189	0.1586:0.4935:0.1549:0.193	.	16;167;167;167	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	I	167;167;16	ENSP00000276431:V167I;ENSP00000317859:V167I;ENSP00000443386:V16I	ENSP00000276431:V167I	V	-	1	0	TNFRSF10B	22942038	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.085000	0.03390	-0.029000	0.13827	0.563000	0.77884	GTC		0.567	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		5	88	5	88	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135524840	135524840	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:135524840G>A	ENST00000377838.3	-	14	3413	c.3239C>T	c.(3238-3240)gCa>gTa	p.A1080V	ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1080					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTTCTGTTGCTGTCTAAAT	0.473																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3202-3204)gCa>gTa		zinc finger and AT hook domain containing							108.0	112.0	110.0					8																	135524840		1925	4127	6052	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524840G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3239C>T	8.37:g.135524840G>A	ENSP00000367069:p.Ala1080Val					ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1080V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'UTR	p.A1068V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3502	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1080					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3203C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613738	0.46631	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.09350	3.0;3.01;2.99;3.0;3.01	4.8	4.8	0.61643	.	0.600840	0.17789	N	0.161941	T	0.06142	0.0159	N	0.12182	0.205	0.26180	N	0.979743	P;B;B	0.35077	0.483;0.003;0.003	B;B;B	0.27887	0.084;0.006;0.004	T	0.34378	-0.9831	10	0.19590	T	0.45	-2.912	15.5236	0.75885	0.0:0.0:1.0:0.0	.	199;1018;1080	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	V	1068;1068;1080;1068;967;1018	ENSP00000427831:A1068V;ENSP00000394501:A1068V;ENSP00000367069:A1080V;ENSP00000428483:A1068V;ENSP00000429091:A1018V	ENSP00000326997:A967V	A	-	2	0	ZFAT	135594022	0.966000	0.33281	0.998000	0.56505	0.981000	0.71138	2.556000	0.45862	2.648000	0.89879	0.563000	0.77884	GCA		0.473	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		6	99	6	99	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	37015117	37015117	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr9:37015117A>G	ENST00000358127.4	-	3	361	c.287T>C	c.(286-288)gTg>gCg	p.V96A	PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	96	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GATTTTTTCCACCACTTTGGG	0.502			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(286-288)gTg>gCg		paired box 5							259.0	254.0	256.0					9																	37015117		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015117A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.287T>C	9.37:g.37015117A>G	ENSP00000350844:p.Val96Ala					PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A	p.V96A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	361	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	96			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.287T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823914	0.90873	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.135690	0.48767	D	0.000178	D	0.99513	0.9826	M	0.91300	3.195	0.80722	D	1	P;D;P;D;D;P;P;P	0.89917	0.955;0.998;0.955;1.0;0.997;0.955;0.955;0.955	D;D;D;D;D;D;D;D	0.81914	0.965;0.995;0.965;0.995;0.992;0.965;0.965;0.965	D	0.98438	1.0585	10	0.56958	D	0.05	.	15.9657	0.79968	1.0:0.0:0.0:0.0	.	96;96;96;96;96;96;96;96	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	A	96	ENSP00000350844:V96A;ENSP00000367084:V96A;ENSP00000367083:V96A;ENSP00000429637:V96A;ENSP00000429291:V96A;ENSP00000430773:V96A;ENSP00000412188:V96A;ENSP00000367078:V96A	ENSP00000350844:V96A	V	-	2	0	PAX5	37005117	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.172000	0.68678	0.529000	0.55759	GTG		0.502	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			30	202	30	202	---	---	---	---
HSPA14	51182	broad.mit.edu	37	10	14909224	14909224	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:14909224T>C	ENST00000378372.3	+	11	1375	c.1136T>C	c.(1135-1137)aTt>aCt	p.I379T		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	379					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATTCTTATTGGGAAAGAA	0.383																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1135-1137)aTt>aCt		heat shock 70kDa protein 14							107.0	108.0	108.0					10																	14909224		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909224T>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1136T>C	10.37:g.14909224T>C	ENSP00000367623:p.Ile379Thr						p.I379T	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			11	1375	+			379					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1136T>C	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750479	0.15778	.	.	ENSG00000187522	ENST00000378372	T	0.00902	5.56	5.8	2.21	0.28008	.	0.427481	0.27240	N	0.020271	T	0.00384	0.0012	N	0.00885	-1.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.02654	T	1	-11.1193	9.7772	0.40626	0.0:0.1954:0.0:0.8046	.	379	Q0VDF9	HSP7E_HUMAN	T	379	ENSP00000367623:I379T	ENSP00000367623:I379T	I	+	2	0	HSPA14	14949230	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	2.222000	0.42926	0.123000	0.18342	-0.274000	0.10170	ATT		0.383	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		10	106	10	106	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75567743	75567743	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:75567743T>C	ENST00000309979.6	-	3	960	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Y135C|NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	135	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GACCAAGACATAGCGGCCATG	0.522																																						ENST00000603027.1																			0											c.(403-405)tAt>tGt									111.0	107.0	108.0					10																	75567743		2203	4300	6503	SO:0001583	missense	8509							g.chr10:75567743T>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.404A>G	10.37:g.75567743T>C	ENSP00000310657:p.Tyr135Cys					NDST2_ENST00000309979.6_Missense_Mutation_p.Y135C|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C	p.Y135C							3	1027	-			135					Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.404A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968066	0.53614	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.56275	0.71;0.47	5.67	4.52	0.55395	.	0.055766	0.85682	D	0.000000	T	0.72574	0.3477	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.974;0.976	T	0.75972	-0.3129	10	0.87932	D	0	.	12.075	0.53638	0.1291:0.0:0.0:0.8709	.	12;135	B4E139;P52849	.;NDST2_HUMAN	C	135;12	ENSP00000310657:Y135C;ENSP00000299641:Y12C	ENSP00000299641:Y12C	Y	-	2	0	NDST2	75237749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.394000	0.52551	0.954000	0.37851	0.459000	0.35465	TAT		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		11	62	11	62	---	---	---	---
PRMT3	10196	broad.mit.edu	37	11	20515515	20515515	+	Splice_Site	SNP	G	G	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:20515515G>T	ENST00000331079.6	+	14	1615	c.1398G>T	c.(1396-1398)agG>agT	p.R466S	PRMT3_ENST00000437750.2_Splice_Site_p.R404S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	466	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GCCACAACAGGGTAAGTATCA	0.279																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1396-1398)agG>agT		protein arginine methyltransferase 3							35.0	40.0	38.0					11																	20515515		2183	4286	6469	SO:0001630	splice_region_variant	10196						zinc ion binding	g.chr11:20515515G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1398+1G>T	11.37:g.20515515G>T						PRMT3_ENST00000437750.2_Splice_Site_p.R404S	p.R466S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN			14	1615	+			466					B4DUC7	Splice_Site	SNP	ENST00000331079.6	37	c.1398G>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	5.336	0.247237	0.10130	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.80909	-1.43;-1.43	5.52	0.888	0.19206	.	0.356432	0.39341	N	0.001389	T	0.68860	0.3047	L	0.45698	1.435	0.30498	N	0.770709	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.57556	-0.7791	10	0.22706	T	0.39	-4.5633	7.1895	0.25818	0.2813:0.0:0.5981:0.1206	.	404;466	O60678-2;O60678	.;ANM3_HUMAN	S	466;466;404	ENSP00000331879:R466S;ENSP00000397766:R404S	ENSP00000331879:R466S	R	+	3	2	PRMT3	20472091	0.989000	0.36119	0.970000	0.41538	0.984000	0.73092	0.713000	0.25794	0.274000	0.22072	0.591000	0.81541	AGG		0.279	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	Missense_Mutation	16	111	16	111	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105797470	105797470	+	Silent	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:105797470C>T	ENST00000530497.1	+	12	1851	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	GRIA4_ENST00000393127.2_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S|GRIA4_ENST00000282499.5_Silent_p.S617S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	617					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		tgtttagaTCCCTCTCAGGTC	0.363																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1849-1851)tcC>tcT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						118.0	118.0	118.0					11																	105797470		2202	4298	6500	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797470C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1851C>T	11.37:g.105797470C>T						GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000530497.1_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S	p.S617S	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2297	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	617					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1851C>T	CCDS8333.1																																																																																				0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	109	8	109	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85270287	85270287	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:85270287A>G	ENST00000266682.5	-	6	1397	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	286					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTAGGGGTAAACATGTGGCGA	0.299																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(856-858)Ttt>Ctt		solute carrier family 6 (neutral amino acid transporter), member 15							78.0	77.0	78.0					12																	85270287		2203	4296	6499	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270287A>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.856T>C	12.37:g.85270287A>G	ENSP00000266682:p.Phe286Leu					SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR	p.F286L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			6	1397	-			286					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.856T>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966207	0.34659	.	.	ENSG00000072041	ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551388;ENST00000551612	T;T;T	0.68765	-0.35;-0.35;-0.35	5.97	5.97	0.96955	.	0.045701	0.85682	D	0.000000	T	0.51058	0.1652	N	0.19112	0.55	0.80722	D	1	B	0.21381	0.055	B	0.30646	0.118	T	0.46748	-0.9169	10	0.09338	T	0.73	.	12.2812	0.54765	0.9324:0.0:0.0676:0.0	.	286	Q9H2J7	S6A15_HUMAN	L	286;2;179;2;2	ENSP00000266682:F286L;ENSP00000450145:F179L;ENSP00000449263:F2L	ENSP00000266682:F286L	F	-	1	0	SLC6A15	83794418	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.137000	0.77295	2.281000	0.76405	0.533000	0.62120	TTT		0.299	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	66	5	66	---	---	---	---
HSPH1	10808	broad.mit.edu	37	13	31727071	31727071	+	Silent	SNP	T	T	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:31727071T>G	ENST00000320027.5	-	5	791	c.447A>C	c.(445-447)acA>acC	p.T149T	HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000380405.4_Silent_p.T149T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	149					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCTCAGCATCTGTAAAGAAGG	0.358																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(445-447)acA>acC		heat shock 105kDa/110kDa protein 1							151.0	148.0	149.0					13																	31727071		2203	4299	6502	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31727071T>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.447A>C	13.37:g.31727071T>G						HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T	p.T149T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	5	791	-		Lung SC(185;0.0257)	149					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.447A>C	CCDS9340.1																																																																																				0.358	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			53	182	53	182	---	---	---	---
RFXAP	5994	broad.mit.edu	37	13	37399674	37399674	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:37399674T>C	ENST00000255476.2	+	2	842		c.e2+2		RFXAP_ENST00000472888.1_Splice_Site	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		AAAAGACTGGTAAATATCTGT	0.313																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.e2+2		regulatory factor X-associated protein							70.0	74.0	73.0					13																	37399674		2203	4298	6501	SO:0001630	splice_region_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399674T>C	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.708+2T>C	13.37:g.37399674T>C						RFXAP_ENST00000472888.1_Splice_Site		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	2	842	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B2R9T8|Q5VZM6|Q8TC40	Splice_Site	SNP	ENST00000255476.2	37		CCDS9359.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886292	0.72410	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7229	0.69320	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RFXAP	36297674	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	6.854000	0.75440	2.154000	0.67381	0.533000	0.62120	.		0.313	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538	Intron	11	47	11	47	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103445972	103445972	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:103445972G>C	ENST00000376004.4	-	3	909	c.573C>G	c.(571-573)caC>caG	p.H191Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	191						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAGGTGTAGTGACATAGGC	0.368																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(571-573)caC>caG		KDEL (Lys-Asp-Glu-Leu) containing 1							134.0	128.0	130.0					13																	103445972		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103445972G>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.573C>G	13.37:g.103445972G>C	ENSP00000365172:p.His191Gln					KDELC1_ENST00000460338.1_5'UTR	p.H191Q	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			3	909	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		191					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.573C>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611364	0.46631	.	.	ENSG00000134901	ENST00000376004	T	0.23348	1.91	5.7	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.90019	3.08	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.55958	-0.8058	10	0.72032	D	0.01	.	9.3259	0.37993	0.5209:0.0:0.4791:0.0	.	191	Q6UW63	KDEL1_HUMAN	Q	191	ENSP00000365172:H191Q	ENSP00000365172:H191Q	H	-	3	2	KDELC1	102243973	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	1.274000	0.33132	0.269000	0.21961	-0.258000	0.10820	CAC		0.368	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			24	105	24	105	---	---	---	---
CUL4A	8451	broad.mit.edu	37	13	113899533	113899533	+	Silent	SNP	C	C	T	rs141571594		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:113899533C>T	ENST00000375440.4	+	14	1596	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	CUL4A_ENST00000451881.1_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I|CUL4A_ENST00000326335.4_Silent_p.I404I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	504					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGAAGGACATCATGGTTCATT	0.488																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1210-1212)atC>atT		cullin 4A							134.0	116.0	122.0					13																	113899533		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113899533C>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1512C>T	13.37:g.113899533C>T						CUL4A_ENST00000375440.4_Silent_p.I504I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I	p.I404I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		14	1461	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	504					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1212C>T	CCDS41908.1																																																																																				0.488	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	54	3	54	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94053216	94053216	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:94053216A>T	ENST00000393151.2	+	22	2994	c.2994A>T	c.(2992-2994)caA>caT	p.Q998H	UNC79_ENST00000553484.1_Missense_Mutation_p.Q998H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	998					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCACCCTCAATTTTTAGCCT	0.353																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2992-2994)caA>caT		unc-79 homolog (C. elegans)							178.0	168.0	171.0					14																	94053216		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94053216A>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2994A>T	14.37:g.94053216A>T	ENSP00000376858:p.Gln998His					UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q998H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H	p.Q998H			Q9P2D8	UNC79_HUMAN			22	3148	+			998					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2994A>T		.	.	.	.	.	.	.	.	.	.	A	16.94	3.260731	0.59431	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.94	2.33	0.28932	.	0.233082	0.37955	N	0.001862	T	0.19327	0.0464	N	0.08118	0	0.31131	N	0.707758	P	0.48016	0.904	P	0.47981	0.563	T	0.11036	-1.0604	10	0.62326	D	0.03	-14.9349	7.9477	0.29995	0.5901:0.0:0.4099:0.0	.	998	C9JQL1	.	H	821;998;998;998;998	ENSP00000256339:Q821H;ENSP00000450868:Q998H;ENSP00000451360:Q998H;ENSP00000376858:Q998H	ENSP00000256339:Q821H	Q	+	3	2	KIAA1409	93122969	0.952000	0.32445	1.000000	0.80357	0.976000	0.68499	0.049000	0.14099	0.508000	0.28173	-0.256000	0.11100	CAA		0.353	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		33	141	33	141	---	---	---	---
ZNF839	55778	broad.mit.edu	37	14	102793195	102793195	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:102793195G>A	ENST00000558850.1	+	2	1164	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M|ZNF839_ENST00000262236.5_Missense_Mutation_p.V272M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	272							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCCTGCTTGGTGACAGAGTC	0.577																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(814-816)Gtg>Atg		zinc finger protein 839							18.0	20.0	19.0					14																	102793195		2016	4154	6170	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102793195G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.814G>A	14.37:g.102793195G>A	ENSP00000453363:p.Val272Met					ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000558850.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M	p.V272M	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	1169	+			272					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.814G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	8.158	0.788787	0.16258	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.42513	0.97;0.97	1.73	1.73	0.24493	.	.	.	.	.	T	0.22513	0.0543	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.49253	0.921;0.706;0.921;0.921	B;B;B;B	0.36534	0.227;0.094;0.153;0.153	T	0.06972	-1.0797	9	0.41790	T	0.15	.	7.3658	0.26772	0.0:0.0:1.0:0.0	.	388;272;151;272	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	388;272;15	ENSP00000399863:V388M;ENSP00000262236:V272M	ENSP00000262236:V272M	V	+	1	0	ZNF839	101862948	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	1.678000	0.37586	0.867000	0.35654	0.655000	0.94253	GTG		0.577	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	14	4	14	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24923886	24923886	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:24923886C>A	ENST00000329468.2	+	1	3346	c.2872C>A	c.(2872-2874)Cct>Act	p.P958T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	958					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATTGGGCACACCTGTTAATGC	0.483																																						ENST00000329468.2																			0											c.(2872-2874)Cct>Act		nuclear pore associated protein 1							75.0	76.0	76.0					15																	24923886		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923886C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2872C>A	15.37:g.24923886C>A	ENSP00000333735:p.Pro958Thr						p.P958T	NM_018958.2	NP_061831.2					1	3346	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2872C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.319478	0.00232	.	.	ENSG00000185823	ENST00000329468	T	0.07567	3.18	1.74	-0.812	0.10853	.	0.637195	0.13080	N	0.415389	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.35968	-0.9767	10	0.44086	T	0.13	.	3.0704	0.06229	0.3618:0.4021:0.2361:0.0	.	958	Q9NZP6	CO002_HUMAN	T	958	ENSP00000333735:P958T	ENSP00000333735:P958T	P	+	1	0	C15orf2	22474979	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.009000	0.13219	-0.202000	0.10268	0.313000	0.20887	CCT		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	92	15	92	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53907788	53907788	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:53907788T>C	ENST00000396328.1	-	15	2854	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G	WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	872										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTGTATTTATCTGACAAGTC	0.353																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2614-2616)gAt>gGt		WD repeat domain 72							53.0	54.0	54.0					15																	53907788		2193	4291	6484	SO:0001583	missense	256764							g.chr15:53907788T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2615A>G	15.37:g.53907788T>C	ENSP00000379619:p.Asp872Gly					WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G	p.D872G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2854	-			872					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2615A>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584570	0.28268	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34667	1.35;1.35	5.72	-0.933	0.10431	.	0.506080	0.20811	N	0.085245	T	0.16300	0.0392	N	0.14661	0.345	0.20638	N	0.999872	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.28530	T	0.3	.	5.5077	0.16864	0.0:0.2663:0.2468:0.4869	.	872	Q3MJ13	WDR72_HUMAN	G	872	ENSP00000379619:D872G;ENSP00000353699:D872G	ENSP00000353699:D872G	D	-	2	0	WDR72	51695080	0.975000	0.34042	0.392000	0.26245	0.744000	0.42396	0.146000	0.16180	-0.420000	0.07427	-0.256000	0.11100	GAT		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		4	90	4	90	---	---	---	---
RASL12	51285	broad.mit.edu	37	15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	rs148588039	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:65347485G>A	ENST00000220062.4	-	5	829	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	185					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCAGCTCCCGCCGTGCCTCT	0.662																																						ENST00000220062.4																			0				lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(553-555)Cgg>Tgg		RAS-like, family 12							20.0	18.0	18.0					15																	65347485		2201	4293	6494	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347485G>A	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.553C>T	15.37:g.65347485G>A	ENSP00000220062:p.Arg185Trp					RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	p.R185W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN			5	829	-			185					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.553C>T	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967777	0.53507	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80214	-1.35;-1.35;-1.35	5.38	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.92507	3.315	0.48830	D	0.999717	P;P;P	0.40619	0.724;0.622;0.622	B;B;B	0.31751	0.135;0.052;0.052	D	0.87541	0.2459	10	0.87932	D	0	.	14.1547	0.65410	0.0:0.0:0.8185:0.1815	.	174;166;185	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	W	185;166;174	ENSP00000220062:R185W;ENSP00000390028:R166W;ENSP00000412787:R174W	ENSP00000220062:R185W	R	-	1	2	RASL12	63134538	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.547000	0.36190	2.526000	0.85167	0.505000	0.49811	CGG		0.662	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		3	16	3	16	---	---	---	---
TPSAB1	7177	broad.mit.edu	37	16	1291297	1291297	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:1291297G>T	ENST00000338844.3	+	3	238	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	TPSAB1_ENST00000461509.2_Missense_Mutation_p.V76L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCCCCAGTGGGTGCTGACCGC	0.706																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(226-228)Gtg>Ttg		tryptase alpha/beta 1							45.0	44.0	44.0					16																	1291297		2198	4296	6494	SO:0001583	missense	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291297G>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.205G>T	16.37:g.1291297G>T	ENSP00000343577:p.Val69Leu					TPSAB1_ENST00000338844.3_Missense_Mutation_p.V69L	p.V76L			P20231	TRYB2_HUMAN			2	420	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.226G>T	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064697	0.55432	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.89617	-2.54;-2.54	3.9	3.9	0.45041	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.162254	0.28908	N	0.013742	D	0.90048	0.6892	L	0.55103	1.725	0.48830	D	0.999715	D;D	0.54601	0.959;0.967	P;P	0.58454	0.752;0.839	D	0.89930	0.4065	10	0.87932	D	0	.	7.8613	0.29511	0.1179:0.0:0.8821:0.0	.	69;69	Q15661-2;Q15661	.;TRYB1_HUMAN	L	69;76	ENSP00000343577:V69L;ENSP00000418247:V76L	ENSP00000343577:V69L	V	+	1	0	TPSAB1	1231298	0.995000	0.38212	1.000000	0.80357	0.892000	0.51952	0.384000	0.20668	1.905000	0.55150	0.479000	0.44913	GTG		0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		8	65	8	65	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4873833	4873833	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:4873833T>C	ENST00000321919.9	-	6	689	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	205					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCGCTTGCGGTTGGCTGCCAT	0.532																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(613-615)Acc>Gcc		glyoxylate reductase 1 homolog (Arabidopsis)							152.0	148.0	149.0					16																	4873833		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873833T>C	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.613A>G	16.37:g.4873833T>C	ENSP00000322716:p.Thr205Ala					GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A	p.T205A	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN			6	689	-			205					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.613A>G	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	T	8.089	0.774013	0.16051	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.68479	0.0;-0.08;-0.33	5.44	5.44	0.79542	.	0.351640	0.34291	N	0.004087	T	0.38799	0.1054	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.24154	-1.0168	10	0.09338	T	0.73	-7.3156	6.0439	0.19750	0.0:0.0835:0.1663:0.7502	.	124;205;205;205	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	A	205;205;124	ENSP00000322716:T205A;ENSP00000371413:T205A;ENSP00000390276:T124A	ENSP00000322716:T205A	T	-	1	0	GLYR1	4813834	0.068000	0.21057	0.105000	0.21289	0.497000	0.33675	1.556000	0.36288	2.182000	0.69389	0.482000	0.46254	ACC		0.532	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		32	125	32	125	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12370900	12370900	+	Silent	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:12370900T>C	ENST00000269143.3	-	3	471	c.240A>G	c.(238-240)ggA>ggG	p.G80G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	80					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTCCATTTTTTCCATTAGGAA	0.279																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(238-240)ggA>ggG		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						64.0	61.0	62.0					18																	12370900		2192	4294	6486	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12370900T>C	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.240A>G	18.37:g.12370900T>C							p.G80G	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			3	471	-			80					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.240A>G	CCDS11859.1																																																																																				0.279	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		4	24	4	24	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22807246	22807246	+	Silent	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:22807246C>T	ENST00000361524.3	-	4	784	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTAGAGGACAGAAACCCAC	0.493			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(634-636)ctG>ctA		zinc finger protein 521							93.0	85.0	88.0					18																	22807246		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807246C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.636G>A	18.37:g.22807246C>T						ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR	p.L212L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	784	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		212					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.636G>A	CCDS32806.1																																																																																				0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		13	60	13	60	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362965	40362965	+	Silent	SNP	C	C	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:40362965C>A	ENST00000221347.6	-	32	15112	c.15105G>T	c.(15103-15105)gtG>gtT	p.V5035V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5035	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCAAGCACACTGGGCAGC	0.706																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15103-15105)gtG>gtT		Fc fragment of IgG binding protein							24.0	29.0	27.0					19																	40362965		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362965C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15105G>T	19.37:g.40362965C>A							p.V5035V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15112	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5035			VWFD 12.		O95784	Silent	SNP	ENST00000221347.6	37	c.15105G>T	CCDS12546.1																																																																																				0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	40	5	40	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47219514	47219514	+	Silent	SNP	G	G	A	rs577377407		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:47219514G>A	ENST00000291281.4	-	1	339	c.114C>T	c.(112-114)atC>atT	p.I38I	PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000433867.1_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I			Q9BZL6	KPCD2_HUMAN	protein kinase D2	38					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGGGCCGGGATCTGGGGCA	0.716																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(112-114)atC>atT		protein kinase D2							19.0	25.0	23.0					19																	47219514		2187	4270	6457	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219514G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.114C>T	19.37:g.47219514G>A						PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000291281.4_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I	p.I38I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	591	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	38					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.114C>T	CCDS12689.1																																																																																				0.716	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		7	61	7	61	---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53117664	53117664	+	Silent	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:53117664A>G	ENST00000597597.1	-	2	2407	c.154T>C	c.(154-156)Tta>Cta	p.L52L	ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.L52L			P51522	ZNF83_HUMAN	zinc finger protein 83	52					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGGGAAACTAAGGAACTACTG	0.353																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(154-156)Tta>Cta		zinc finger protein 83							90.0	93.0	92.0					19																	53117664		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117664A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.154T>C	19.37:g.53117664A>G						ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L	p.L52L			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2407	-			52					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.154T>C	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		13	87	13	87	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132937913	132937914	+	Frame_Shift_Ins	INS	-	-	C	rs560096370	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr7:132937913_132937914insC	ENST00000253861.4	+	1	85_86	c.56_57insC	c.(55-60)gaccccfs	p.DP19fs	EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs|EXOC4_ENST00000539845.1_5'Flank	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	19					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAAGCAAAGACCCCTCGGGGC	0.624																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(55-60)gaccccfs		exocyst complex component 4																																				SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132937913_132937914insC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.60dupC	7.37:g.132937917_132937917dupC	ENSP00000253861:p.Asp19fs					EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs	p.DP19fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			1	85_86	+		Esophageal squamous(399;0.129)	19					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Ins	INS	ENST00000253861.4	37	c.56_57insC	CCDS5829.1																																																																																				0.624	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		15	64	15	64	---	---	---	---
