#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
PRAMEF1	65121	broad.mit.edu	37	1	12854536	12854536	+	Missense_Mutation	SNP	C	C	T	rs1063777		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:12854536C>T	ENST00000332296.7	+	3	863	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	254					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAAGGACGGTTAGTTGC	0.438																																						uc001auj.1																			0					0						c.(760-762)CGG>TGG		PRAME family member 1							157.0	157.0	157.0					1																	12854536		2203	4299	6502	SO:0001583	missense	65121							g.chr1:12854536C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.760C>T	1.37:g.12854536C>T	ENSP00000332134:p.Arg254Trp						p.R254W	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	863	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	254					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.760C>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.456	0.084534	0.08583	.	.	ENSG00000116721	ENST00000332296	T	0.17213	2.29	1.44	-2.89	0.05665	.	0.973308	0.08426	N	0.947639	T	0.13372	0.0324	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.29366	-1.0014	10	0.66056	D	0.02	.	4.379	0.11284	0.0:0.5004:0.1882:0.3114	rs1063777	254	O95521	PRAM1_HUMAN	W	254	ENSP00000332134:R254W	ENSP00000332134:R254W	R	+	1	2	PRAMEF1	12777123	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.878000	0.04192	-1.613000	0.01577	-2.571000	0.00171	CGG		0.438	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
KIF17	57576	broad.mit.edu	37	1	21016727	21016727	+	Silent	SNP	A	A	G	rs143130602		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:21016727A>G	ENST00000247986.2	-	7	1645	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	KIF17_ENST00000400463.3_Silent_p.Y445Y|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.Y345Y			Q9P2E2	KIF17_HUMAN	kinesin family member 17	445					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCTGACGTCATATGAGTTGC	0.627																																						uc001bdr.3																			0				ovary(3)|skin(1)	4						c.(1333-1335)TAT>TAC		kinesin family member 17 isoform a		A	,	1,4405	2.1+/-5.4	0,1,2202	60.0	53.0	56.0		1335,1335	-2.1	0.0	1	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	445/1029,445/1030	21016727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21016727A>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1335T>C	1.37:g.21016727A>G						KIF17_uc009vpx.2_Missense_Mutation_p.M1T|KIF17_uc001bds.3_Silent_p.Y445Y	p.Y445Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	7	1453	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	445			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1335T>C	CCDS213.1																																																																																				0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
SLC44A5	204962	broad.mit.edu	37	1	75708631	75708631	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:75708631T>A	ENST00000370855.5	-	8	524	c.411A>T	c.(409-411)aaA>aaT	p.K137N	SLC44A5_ENST00000370859.3_Missense_Mutation_p.K137N|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_Missense_Mutation_p.K7N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	137					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGCTTTTGTCTTTTGTGTACA	0.393																																						uc001dgu.2																			0				ovary(2)|skin(2)	4						c.(409-411)AAA>AAT		solute carrier family 44, member 5 isoform A							148.0	149.0	149.0					1																	75708631		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708631T>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.411A>T	1.37:g.75708631T>A	ENSP00000359892:p.Lys137Asn					SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc010oqz.1_Missense_Mutation_p.K176N|SLC44A5_uc010ora.1_Missense_Mutation_p.K131N|SLC44A5_uc010orb.1_Missense_Mutation_p.K7N	p.K137N	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			8	555	-			137			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.411A>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725099	0.48833	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.16743	2.32;2.32;2.52	5.07	-4.28	0.03732	.	1.603030	0.02790	N	0.121938	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.001;0.0;0.003;0.003	T	0.34229	-0.9837	10	0.13108	T	0.6	2.989	10.5718	0.45204	0.0:0.165:0.6476:0.1874	.	131;176;137;137;176	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	137;176;137;7;130	ENSP00000359896:K137N;ENSP00000359892:K137N;ENSP00000443090:K7N	ENSP00000359892:K137N	K	-	3	2	SLC44A5	75481219	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-0.903000	0.04084	-0.486000	0.06744	0.533000	0.62120	AAA		0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
PLA2G4A	5321	broad.mit.edu	37	1	186863259	186863259	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:186863259G>A	ENST00000367466.3	+	5	446	c.294G>A	c.(292-294)atG>atA	p.M98I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.M98I|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	98	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATTATGTCATGGATGAAACTC	0.338																																						uc001gsc.2																			0				lung(2)|breast(1)	3						c.(292-294)ATG>ATA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						153.0	150.0	151.0					1																	186863259		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863259G>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.294G>A	1.37:g.186863259G>A	ENSP00000356436:p.Met98Ile					PLA2G4A_uc010pos.1_Missense_Mutation_p.M98I	p.M98I	NM_024420	NP_077734	P47712	PA24A_HUMAN			5	499	+			98			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.294G>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074231	0.55646	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.68765	-0.35;-0.35	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.38531	1.155	0.58432	D	0.999993	B;B	0.18863	0.023;0.031	B;B	0.20577	0.03;0.022	T	0.52586	-0.8556	10	0.22706	T	0.39	-26.2512	18.8654	0.92290	0.0:0.0:1.0:0.0	.	98;98	E7EU42;P47712	.;PA24A_HUMAN	I	98	ENSP00000356436:M98I;ENSP00000406892:M98I	ENSP00000356436:M98I	M	+	3	0	PLA2G4A	185129882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.280000	0.78610	2.686000	0.91538	0.650000	0.86243	ATG		0.338	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
RYR2	6262	broad.mit.edu	37	1	237632425	237632425	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:237632425C>G	ENST00000366574.2	+	17	1963	c.1646C>G	c.(1645-1647)gCt>gGt	p.A549G	RYR2_ENST00000360064.6_Missense_Mutation_p.A547G|RYR2_ENST00000542537.1_Missense_Mutation_p.A533G|MIR4428_ENST00000584884.1_RNA	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	549					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAACTGTGCTCAATTTTCT	0.373																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1645-1647)GCT>GGT		cardiac muscle ryanodine receptor							123.0	121.0	122.0					1																	237632425		1818	4084	5902	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632425C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1646C>G	1.37:g.237632425C>G	ENSP00000355533:p.Ala549Gly						p.A549G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1766	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	549			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1646C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440008	0.83993	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95949	-3.86;-3.86;-3.86	4.94	4.94	0.65067	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000020	D	0.96895	0.8986	M	0.83603	2.65	0.80722	D	1	D	0.57257	0.979	P	0.54759	0.76	D	0.97501	1.0060	10	0.87932	D	0	.	15.0843	0.72138	0.0:1.0:0.0:0.0	.	549	Q92736	RYR2_HUMAN	G	549;547;533	ENSP00000355533:A549G;ENSP00000353174:A547G;ENSP00000443798:A533G	ENSP00000353174:A547G	A	+	2	0	RYR2	235699048	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.968000	0.76086	2.285000	0.76669	0.563000	0.77884	GCT		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PTEN	5728	broad.mit.edu	37	10	89692800	89692800	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr10:89692800C>T	ENST00000371953.3	+	5	1641	c.284C>T	c.(283-285)cCa>cTa	p.P95L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	95	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.P95L(3)|p.Y27fs*1(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCATAACCCACCACAGCTA	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		56	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(2)	p.R55fs*1(4)|p.P95S(4)|p.P95L(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(283-285)CCA>CTA		phosphatase and tensin homolog							109.0	101.0	104.0					10																	89692800		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692800C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.284C>T	10.37:g.89692800C>T	ENSP00000361021:p.Pro95Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.P95L	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1315	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	95			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.284C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944798	0.92593	.	.	ENSG00000171862	ENST00000371953	D	0.98550	-4.99	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99671	1.0996	9	.	.	.	-6.8537	18.4584	0.90729	0.0:1.0:0.0:0.0	.	95	P60484	PTEN_HUMAN	L	95	ENSP00000361021:P95L	.	P	+	2	0	PTEN	89682780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.318000	0.78349	0.655000	0.94253	CCA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PHRF1	57661	broad.mit.edu	37	11	608268	608268	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:608268C>T	ENST00000264555.5	+	14	2940	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	PHRF1_ENST00000416188.2_Missense_Mutation_p.P937S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P936S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P934S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	938					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCATCCCCCCCAGAGCCCTG	0.697																																						uc001lqe.2																			0					0						c.(2812-2814)CCA>TCA		PHD and ring finger domains 1							14.0	18.0	17.0					11																	608268		1935	4077	6012	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608268C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2812C>T	11.37:g.608268C>T	ENSP00000264555:p.Pro938Ser					PHRF1_uc010qwc.1_Missense_Mutation_p.P937S|PHRF1_uc010qwd.1_Missense_Mutation_p.P936S|PHRF1_uc010qwe.1_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.1_RNA	p.P938S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2943	+			938					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2812C>T		.	.	.	.	.	.	.	.	.	.	C	1.002	-0.690618	0.03303	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.31	-2.93	0.05598	.	1.068010	0.07444	N	0.897824	T	0.55497	0.1924	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.13145	0.004;0.007;0.007;0.004	B;B;B;B	0.10450	0.002;0.005;0.005;0.002	T	0.37337	-0.9710	10	0.41790	T	0.15	0.0256	1.0075	0.01490	0.3559:0.2541:0.2252:0.1648	.	934;936;937;938	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	938;936;937;934	ENSP00000264555:P938S;ENSP00000388589:P936S;ENSP00000410626:P937S;ENSP00000431870:P934S	ENSP00000264555:P938S	P	+	1	0	PHRF1	598268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.035000	0.12205	-0.403000	0.07622	-0.266000	0.10368	CCA		0.697	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
OR51D1	390038	broad.mit.edu	37	11	4661911	4661911	+	Silent	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4661911T>A	ENST00000357605.2	+	1	967	c.891T>A	c.(889-891)ccT>ccA	p.P297P	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACCACCTGTAGTCAACC	0.522																																						uc010qyk.1																			0					0						c.(889-891)CCT>CCA		olfactory receptor, family 51, subfamily D,							111.0	106.0	108.0					11																	4661911		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661911T>A	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.891T>A	11.37:g.4661911T>A							p.P297P	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	891	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	297			Helical; Name=7; (Potential).		B9EIK4	Silent	SNP	ENST00000357605.2	37	c.891T>A	CCDS31357.1																																																																																				0.522	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751	
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																						uc010qyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(985-987)CGC>CAC		olfactory receptor, family 51, subfamily T,		G	HIS/ARG	0,4402		0,0,2201	93.0	88.0	90.0		986	4.0	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904034G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His						p.R329H	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759	
SLC17A6	57084	broad.mit.edu	37	11	22399231	22399231	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:22399231T>C	ENST00000263160.3	+	12	2131	c.1694T>C	c.(1693-1695)gTa>gCa	p.V565A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	565					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGAATTTGTACAAGGAGAA	0.353																																						uc001mqk.2																			0				ovary(3)|breast(1)	4						c.(1693-1695)GTA>GCA		solute carrier family 17 (sodium-dependent							43.0	44.0	43.0					11																	22399231		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399231T>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1694T>C	11.37:g.22399231T>C	ENSP00000263160:p.Val565Ala						p.V565A	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	2107	+			565			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1694T>C	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341152	0.41498	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.64438	-0.1	5.85	5.85	0.93711	.	0.060537	0.64402	D	0.000003	T	0.58495	0.2126	L	0.54323	1.7	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.53436	-0.8439	10	0.26408	T	0.33	.	16.2285	0.82315	0.0:0.0:0.0:1.0	.	565	Q9P2U8	VGLU2_HUMAN	A	565;453	ENSP00000263160:V565A	ENSP00000263160:V565A	V	+	2	0	SLC17A6	22355807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.235000	0.73313	0.460000	0.39030	GTA		0.353	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
OR4C15	81309	broad.mit.edu	37	11	55322570	55322570	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:55322570A>T	ENST00000314644.2	+	1	788	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCATCATAAACTTCTCCTTG	0.478										HNSCC(20;0.049)																												uc010rig.1																			0				ovary(1)|skin(1)	2						c.(787-789)AAC>ATC		olfactory receptor, family 4, subfamily C,							204.0	145.0	165.0					11																	55322570		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322570A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.788A>T	11.37:g.55322570A>T	ENSP00000324958:p.Asn263Ile	HNSCC(20;0.049)					p.N263I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	788	+			209			Helical; Name=5; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.788A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	5.083	0.201005	0.09652	.	.	ENSG00000181939	ENST00000314644	T	0.36157	1.27	5.02	-4.69	0.03299	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12092	0.0294	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28459	-1.0043	9	0.17369	T	0.5	.	3.8163	0.08817	0.5868:0.0749:0.1103:0.228	.	209	Q8NGM1	OR4CF_HUMAN	I	263	ENSP00000324958:N263I	ENSP00000324958:N263I	N	+	2	0	OR4C15	55079146	0.000000	0.05858	0.031000	0.17742	0.462000	0.32619	0.293000	0.19029	-0.553000	0.06158	-0.904000	0.02843	AAC		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
VWF	7450	broad.mit.edu	37	12	6138532	6138532	+	Silent	SNP	G	G	A	rs369031938		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:6138532G>A	ENST00000261405.5	-	22	3197	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	981	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGACCACGGAGATGCTCA	0.552																																						uc001qnn.1																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2941-2943)TCC>TCT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)	G		1,4405	2.1+/-5.4	0,1,2202	150.0	138.0	142.0		2943	-9.2	0.1	12		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VWF	NM_000552.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		981/2814	6138532	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138532G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2943C>T	12.37:g.6138532G>A						VWF_uc010set.1_Intron	p.S981S	NM_000552	NP_000543	P04275	VWF_HUMAN			22	3193	-			981			VWFD 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2943C>T	CCDS8539.1																																																																																				0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
A2M	2	broad.mit.edu	37	12	9225468	9225468	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:9225468C>A	ENST00000318602.7	-	30	4064		c.e30-1			NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCACTGTGTCCTGTTAGAGAC	0.478																																						uc001qvk.1																			0				central_nervous_system(4)|skin(1)	5						c.e30-1		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						35.0	34.0	34.0					12																	9225468		2044	4236	6280	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225468C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3757-1G>T	12.37:g.9225468C>A						A2M_uc001qvj.1_Splice_Site_p.D295_splice|A2M_uc009zgk.1_Splice_Site_p.D1103_splice	p.D1253_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	3870	-								Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Splice_Site	SNP	ENST00000318602.7	37	c.3757_splice	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997787	0.54147	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8331	0.96643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A2M	9116735	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.807000	0.86032	2.779000	0.95612	0.650000	0.86243	.		0.478	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Intron
YARS2	51067	broad.mit.edu	37	12	32908585	32908585	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:32908585G>C	ENST00000324868.8	-	1	251	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	75					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGTAAATGGTTTGGGGAAA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rli.2																			0					0						c.(223-225)ACC>AGC		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						110.0	117.0	114.0					12																	32908585		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908585G>C	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.224C>G	12.37:g.32908585G>C	ENSP00000320658:p.Thr75Ser		OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.T75S	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			1	290	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		75					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.224C>G	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645541	0.47258	.	.	ENSG00000139131	ENST00000324868	T	0.50813	0.73	5.1	5.1	0.69264	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.104806	0.64402	D	0.000005	T	0.33933	0.0880	N	0.25201	0.72	0.58432	D	0.999996	B	0.21147	0.052	B	0.24269	0.052	T	0.15723	-1.0427	10	0.06099	T	0.92	-5.1878	18.3808	0.90451	0.0:0.0:1.0:0.0	.	75	Q9Y2Z4	SYYM_HUMAN	S	75	ENSP00000320658:T75S	ENSP00000320658:T75S	T	-	2	0	YARS2	32799852	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	6.528000	0.73807	2.673000	0.90976	0.650000	0.86243	ACC		0.577	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936	
CPNE8	144402	broad.mit.edu	37	12	39079420	39079420	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:39079420C>A	ENST00000331366.5	-	16	1240		c.e16-1		CPNE8_ENST00000360449.3_Splice_Site|CPNE8_ENST00000538596.2_Splice_Site	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATTCCCATTCTGTAGAAATT	0.383																																						uc001rls.1																			0				pancreas(1)	1						c.e16-1		copine VIII							83.0	90.0	88.0					12																	39079420		2203	4300	6503	SO:0001630	splice_region_variant	144402							g.chr12:39079420C>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1144-1G>T	12.37:g.39079420C>A						CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	p.N382_splice	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			16	1228	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)						Q2TB41|Q86VY2	Splice_Site	SNP	ENST00000331366.5	37	c.1144_splice	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105678	0.56291	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5387	0.87841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPNE8	37365687	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.154000	0.77437	2.596000	0.87737	0.655000	0.94253	.		0.383	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	Intron
ALX1	8092	broad.mit.edu	37	12	85695101	85695101	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:85695101C>T	ENST00000316824.3	+	4	984	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	277					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCACGTGCCCCTCAACAATTT	0.473																																						uc001tae.3																			0				ovary(1)|central_nervous_system(1)	2						c.(829-831)CTC>TTC		cartilage paired-class homeoprotein 1							111.0	108.0	109.0					12																	85695101		2203	4299	6502	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695101C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.829C>T	12.37:g.85695101C>T	ENSP00000315417:p.Leu277Phe						p.L277F	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	833	+			277					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.829C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654614	0.47467	.	.	ENSG00000180318	ENST00000316824	D	0.93133	-3.17	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	L	0.53249	1.67	0.80722	D	1	P	0.49961	0.93	B	0.44044	0.439	D	0.91542	0.5250	10	0.37606	T	0.19	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	277	Q15699	ALX1_HUMAN	F	277	ENSP00000315417:L277F	ENSP00000315417:L277F	L	+	1	0	ALX1	84219232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.967000	0.49216	2.840000	0.97914	0.655000	0.94253	CTC		0.473	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
ZNF10	7556	broad.mit.edu	37	12	133732883	133732883	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:133732883T>C	ENST00000248211.6	+	5	1273	c.1051T>C	c.(1051-1053)Tgt>Cgt	p.C351R	ZNF10_ENST00000402932.2_Missense_Mutation_p.C217R|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.C351R|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTGTACACATGTAATCAGTG	0.413																																						uc009zzb.2																			0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1051-1053)TGT>CGT		zinc finger protein 10							138.0	145.0	143.0					12																	133732883		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732883T>C	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1051T>C	12.37:g.133732883T>C	ENSP00000248211:p.Cys351Arg					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.C351R	p.C351R	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1498	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	351			C2H2-type 5.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.1051T>C	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386696	0.61956	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	D;D;D	0.85258	-1.96;-1.96;-1.96	3.6	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001799	D	0.94532	0.8239	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95417	0.8503	9	.	.	.	.	11.6223	0.51126	0.0:0.0:0.0:1.0	.	351	P21506	ZNF10_HUMAN	R	351;351;217	ENSP00000248211:C351R;ENSP00000393814:C351R;ENSP00000384893:C217R	.	C	+	1	0	ZNF10	132242956	1.000000	0.71417	0.943000	0.38184	0.980000	0.70556	4.397000	0.59690	1.638000	0.50547	0.533000	0.62120	TGT		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
RYR3	6263	broad.mit.edu	37	15	33822868	33822868	+	Splice_Site	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr15:33822868G>A	ENST00000389232.4	+	4	424		c.e4+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGGAATGGTAAGCAGCTC	0.498																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.e4+1		ryanodine receptor 3							63.0	60.0	61.0					15																	33822868		1953	4151	6104	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822868G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.354+1G>A	15.37:g.33822868G>A						RYR3_uc010bar.2_Splice_Site_p.M118_splice	p.M118_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	424	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.354_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987738	0.93106	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7474	0.91799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610160	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.349000	0.97066	2.713000	0.92767	0.655000	0.94253	.		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron
MGRN1	23295	broad.mit.edu	37	16	4731741	4731741	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:4731741G>A	ENST00000399577.5	+	13	1415	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	MGRN1_ENST00000588994.1_Missense_Mutation_p.R419H|MGRN1_ENST00000415496.1_Missense_Mutation_p.R420H|MGRN1_ENST00000262370.7_Missense_Mutation_p.R441H|MGRN1_ENST00000586183.1_Missense_Mutation_p.R419H	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	441					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GACAGCAGCCGCCAGAAGGGC	0.662																																						uc002cwz.2																			0				ovary(1)|skin(1)	2						c.(1321-1323)CGC>CAC		mahogunin, ring finger 1 isoform 3							16.0	19.0	18.0					16																	4731741		2141	4245	6386	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4731741G>A	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1322G>A	16.37:g.4731741G>A	ENSP00000382487:p.Arg441His					MGRN1_uc002cxa.2_Missense_Mutation_p.R441H|MGRN1_uc010btx.2_Missense_Mutation_p.R420H|MGRN1_uc010btw.2_Missense_Mutation_p.R420H|MGRN1_uc002cxb.2_Missense_Mutation_p.R480H|MGRN1_uc010uxo.1_Missense_Mutation_p.R419H|MGRN1_uc010uxp.1_Missense_Mutation_p.R419H|MGRN1_uc010uxq.1_RNA	p.R441H	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			13	1458	+			441					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.1322G>A	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707847	0.15239	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496	T;T;T	0.28255	1.62;1.63;1.62	5.33	-2.61	0.06171	.	0.650563	0.16576	N	0.208387	T	0.09423	0.0232	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.21245	-1.0251	10	0.42905	T	0.14	-5.3845	6.37	0.21475	0.4048:0.0:0.0806:0.5146	.	419;419;420;441;441	O60291-4;O60291-3;E9PB19;O60291-2;O60291	.;.;.;.;MGRN1_HUMAN	H	441;441;420	ENSP00000262370:R441H;ENSP00000382487:R441H;ENSP00000393311:R420H	ENSP00000262370:R441H	R	+	2	0	MGRN1	4671742	0.789000	0.28775	0.059000	0.19551	0.014000	0.08584	1.409000	0.34680	-0.264000	0.09365	-0.339000	0.08088	CGC		0.662	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2		
ATP6V0D1	9114	broad.mit.edu	37	16	67472549	67472549	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:67472549C>T	ENST00000290949.3	-	8	1088	c.938G>A	c.(937-939)gGt>gAt	p.G313D	ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.G236D|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G354D	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	313					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATAGAAGACACCAAAGTGGAA	0.547																																						uc002ete.1																			0					0						c.(937-939)GGT>GAT		ATPase, H+ transporting, lysosomal, V0 subunit							194.0	166.0	176.0					16																	67472549		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472549C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.938G>A	16.37:g.67472549C>T	ENSP00000290949:p.Gly313Asp					ATP6V0D1_uc010vjo.1_Missense_Mutation_p.G354D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	p.G313D	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1038	-		Ovarian(137;0.0563)	313					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.938G>A	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995170	0.74703	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.35236	1.32;1.32	5.11	5.11	0.69529	.	0.049037	0.85682	D	0.000000	T	0.60418	0.2267	M	0.91768	3.24	0.80722	D	1	D;B	0.55800	0.973;0.244	P;B	0.51657	0.676;0.369	T	0.72080	-0.4398	10	0.66056	D	0.02	-8.2802	17.1994	0.86902	0.0:1.0:0.0:0.0	.	354;313	F5GYQ1;P61421	.;VA0D1_HUMAN	D	313;236;354	ENSP00000290949:G313D;ENSP00000441282:G354D	ENSP00000290949:G313D	G	-	2	0	ATP6V0D1	66030050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.397000	0.81536	0.650000	0.86243	GGT		0.547	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691	
FA2H	79152	broad.mit.edu	37	16	74750318	74750318	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:74750318C>T	ENST00000219368.3	-	6	1035	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_ENST00000544337.1_Silent_p.S109S	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	322					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602																																						uc002fde.1																			0					0						c.(964-966)TCG>TCA		fatty acid 2-hydroxylase							101.0	82.0	88.0					16																	74750318		2198	4300	6498	SO:0001819	synonymous_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750318C>T	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.966G>A	16.37:g.74750318C>T						FA2H_uc002fdd.1_Silent_p.S95S|FA2H_uc010vmy.1_RNA	p.S322S	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			6	1034	-			322					B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	37	c.966G>A	CCDS10911.1																																																																																				0.602	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306	
USP6	9098	broad.mit.edu	37	17	5042870	5042870	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:5042870T>A	ENST00000574788.1	+	22	3629	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R	USP6_ENST00000332776.4_Missense_Mutation_p.W467R|USP6_ENST00000250066.6_Missense_Mutation_p.W467R|USP6_ENST00000304328.5_Missense_Mutation_p.W150R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	467					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGGCCCTTGGTTCCCCCA	0.617			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1399-1401)TGG>AGG		ubiquitin specific protease 6							47.0	53.0	51.0					17																	5042870		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042870T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1399T>A	17.37:g.5042870T>A	ENSP00000460380:p.Trp467Arg					USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|uc002gbd.2_5'Flank	p.W467R	NM_004505	NP_004496	P35125	UBP6_HUMAN			22	3629	+			467					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1399T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506165	0.26949	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.19669	2.43;2.87;2.13	0.266	0.266	0.15617	.	0.100434	0.64402	D	0.000001	T	0.21509	0.0518	L	0.29908	0.895	0.09310	N	1	D;P	0.54397	0.966;0.943	P;P	0.55667	0.781;0.608	T	0.05954	-1.0854	9	0.52906	T	0.07	.	.	.	.	.	150;467	P35125-2;P35125	.;UBP6_HUMAN	R	467;467;150	ENSP00000328010:W467R;ENSP00000250066:W467R;ENSP00000305473:W150R	ENSP00000250066:W467R	W	+	1	0	USP6	4983594	0.108000	0.22018	0.022000	0.16811	0.021000	0.10359	-0.281000	0.08456	0.330000	0.23485	0.321000	0.21382	TGG		0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
MYH1	4619	broad.mit.edu	37	17	10412802	10412802	+	Splice_Site	SNP	C	C	T	rs369732205		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:10412802C>T	ENST00000226207.5	-	15	1681	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	529	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAAGCCAACCTTCTCGATGA	0.433																																						uc002gmo.2																			0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1585-1587)AAG>AAA		myosin, heavy chain 1, skeletal muscle, adult							164.0	136.0	146.0					17																	10412802		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10412802C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1587+1G>A	17.37:g.10412802C>T						uc002gml.1_Intron	p.K529K	NM_005963	NP_005954	P12882	MYH1_HUMAN			15	1681	-			529			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1587G>A	CCDS11155.1																																																																																				0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Silent
FKBP10	60681	broad.mit.edu	37	17	39969482	39969482	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:39969482C>T	ENST00000321562.4	+	1	300	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LEPREL4_ENST00000393928.1_5'Flank|LEPREL4_ENST00000355468.3_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	66	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATTTTGTGCGCTACCACTA	0.627																																						uc002hxv.2																			0				ovary(1)	1						c.(196-198)CGC>TGC		FK506 binding protein 10 precursor							105.0	113.0	111.0					17																	39969482		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969482C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.196C>T	17.37:g.39969482C>T	ENSP00000317232:p.Arg66Cys					SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	p.R66C	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	521	+		Breast(137;0.00122)	66			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.196C>T	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124865	0.94429	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.86164	-2.08;-2.08	5.54	4.57	0.56435	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.139464	0.48286	D	0.000199	D	0.93848	0.8032	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94533	0.7738	10	0.66056	D	0.02	-19.7766	14.1067	0.65093	0.0:0.9269:0.0:0.0731	.	66	Q96AY3	FKB10_HUMAN	C	66;6;66;66	ENSP00000408232:R6C;ENSP00000317232:R66C	ENSP00000269598:R66C	R	+	1	0	FKBP10	37223008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	1.347000	0.45714	0.655000	0.94253	CGC		0.627	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
PPM1D	8493	broad.mit.edu	37	17	58725371	58725371	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:58725371A>T	ENST00000305921.3	+	4	1177	c.945A>T	c.(943-945)ggA>ggT	p.G315G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	315	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGTGATGGACTTTGGAATA	0.413																																						uc002iyt.1																			0				upper_aerodigestive_tract(1)	1						c.(943-945)GGA>GGT		protein phosphatase 1D							133.0	118.0	123.0					17																	58725371		2203	4300	6503	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58725371A>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.945A>T	17.37:g.58725371A>T						PPM1D_uc010ddm.1_RNA	p.G315G	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		4	1167	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		315			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.945A>T	CCDS11625.1																																																																																				0.413	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	
PGS1	9489	broad.mit.edu	37	17	76420172	76420172	+	3'UTR	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:76420172C>T	ENST00000262764.6	+	0	1738				DNAH17_ENST00000389840.5_Missense_Mutation_p.A4425T|PGS1_ENST00000329897.7_3'UTR|AC061992.1_ENST00000600087.1_5'Flank|PGS1_ENST00000588281.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A4397T|DNAH17_ENST00000586052.1_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.A4397T(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ACAGGCATGGCCGGGGTCAGC	0.602																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.1																			1	Substitution - Missense(1)		prostate(1)	ovary(6)|breast(2)|skin(1)	9						c.(4204-4206)GCC>ACC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							79.0	78.0	78.0					17																	76420172		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8632							g.chr17:76420172C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.*41C>T	17.37:g.76420172C>T						PGS1_uc002jvm.2_3'UTR|PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_3'UTR|PGS1_uc002jvo.2_RNA|DNAH17_uc002jvq.2_Missense_Mutation_p.A687T|DNAH17_uc002jvs.2_RNA	p.A1402T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4426	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.4204G>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368481	0.24771	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08634	3.07	5.23	3.16	0.36331	.	0.621363	0.15258	N	0.271922	T	0.05044	0.0135	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.19148	0.024	T	0.37731	-0.9693	10	0.24483	T	0.36	.	3.7712	0.08642	0.1132:0.5319:0.1977:0.1572	.	4397	E7EUM8	.	T	4397;4425	ENSP00000374490:A4425T	ENSP00000300671:A4397T	A	-	1	0	DNAH17	73931767	0.025000	0.19082	0.911000	0.35937	0.890000	0.51754	0.233000	0.17911	1.431000	0.47355	0.655000	0.94253	GCC		0.602	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	
TRAPPC8	22878	broad.mit.edu	37	18	29435678	29435678	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr18:29435678T>C	ENST00000283351.4	-	21	3616	c.3281A>G	c.(3280-3282)gAa>gGa	p.E1094G	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1040G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1094					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTGCCTTCTTCATTTTCAAG	0.353																																						uc002kxc.3																			0					0						c.(3280-3282)GAA>GGA		hypothetical protein LOC22878							99.0	98.0	98.0					18																	29435678		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29435678T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3281A>G	18.37:g.29435678T>C	ENSP00000283351:p.Glu1094Gly					KIAA1012_uc002kxb.3_Missense_Mutation_p.E1040G|KIAA1012_uc002kxd.3_RNA	p.E1094G	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			21	3645	-			1094					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3281A>G	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269167	0.40095	.	.	ENSG00000153339	ENST00000283351	T	0.19105	2.17	5.61	5.61	0.85477	.	0.235255	0.46758	D	0.000276	T	0.18551	0.0445	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.03684	-1.1013	10	0.26408	T	0.33	.	16.0875	0.81068	0.0:0.0:0.0:1.0	.	1094	Q9Y2L5	TPPC8_HUMAN	G	1094	ENSP00000283351:E1094G	ENSP00000283351:E1094G	E	-	2	0	TRAPPC8	27689676	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.329000	0.59260	2.258000	0.74832	0.477000	0.44152	GAA		0.353	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
NBAS	51594	broad.mit.edu	37	2	15564456	15564456	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:15564456C>G	ENST00000281513.5	-	23	2585	c.2560G>C	c.(2560-2562)Gag>Cag	p.E854Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E854Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	854					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCATAATGCTCTATTTCCTCT	0.502																																						uc002rcc.1																			0				ovary(2)|liver(1)|skin(1)	4						c.(2560-2562)GAG>CAG		neuroblastoma-amplified protein							209.0	152.0	171.0					2																	15564456		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15564456C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2560G>C	2.37:g.15564456C>G	ENSP00000281513:p.Glu854Gln					NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_RNA	p.E854Q	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			23	2586	-			854					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2560G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.962966|1.962966	0.34659|0.34659	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.18174|.	2.23;2.23;2.31|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Secretory pathway Sec39 (1);|.	0.046256|.	0.85682|.	D|.	0.000000|.	T|.	0.69744|.	0.3145|.	M|M	0.77103|0.77103	2.36|2.36	0.22779|0.22779	N|N	0.998743|0.998743	B;D|.	0.76494|.	0.022;0.999|.	B;D|.	0.71184|.	0.004;0.972|.	T|.	0.63782|.	-0.6559|.	10|.	0.87932|.	D|.	0|.	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;854|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	Q|Y	854;854;21|21	ENSP00000413201:E854Q;ENSP00000281513:E854Q;ENSP00000396501:E21Q|.	ENSP00000281513:E854Q|.	E|X	-|-	1|3	0|2	NBAS|NBAS	15481907|15481907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.956000|6.956000	0.76013|0.76013	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GAG|TAG		0.502	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
XDH	7498	broad.mit.edu	37	2	31588885	31588885	+	Missense_Mutation	SNP	G	G	A	rs140007233		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:31588885G>A	ENST00000379416.3	-	22	2461	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	805					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACAGTGCTCCGGGTCTCCTTG	0.527																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2413-2415)CGG>TGG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	101.0	103.0		2413	0.6	1.0	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	XDH	NM_000379.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	805/1334	31588885	1,13005	2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31588885G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2413C>T	2.37:g.31588885G>A	ENSP00000368727:p.Arg805Trp						p.R805W	NM_000379	NP_000370	P47989	XDH_HUMAN			22	2492	-	Acute lymphoblastic leukemia(172;0.155)		805					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2413C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269203	0.80469	2.27E-4	0.0	ENSG00000158125	ENST00000379416	T	0.39229	1.09	6.17	0.619	0.17630	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84585	0.0663	10	0.87932	D	0	.	16.339	0.83075	0.0:0.0:0.3057:0.6943	.	805	P47989	XDH_HUMAN	W	805	ENSP00000368727:R805W	ENSP00000368727:R805W	R	-	1	2	XDH	31442389	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	2.759000	0.47573	0.421000	0.25980	0.655000	0.94253	CGG		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	rs200754645		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:74747143C>T	ENST00000404568.3	-	9	1733	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_ENST00000393951.2_Missense_Mutation_p.R505H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	505						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527																																						uc010yrw.1																			0				ovary(2)	2						c.(1513-1515)CGT>CAT		DEAQ box polypeptide 1 (RNA-dependent ATPase)		C	HIS/ARG	0,4406		0,0,2203	73.0	77.0	75.0		1514	-4.2	0.1	2		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DQX1	NM_133637.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	505/718	74747143	2,13004	2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747143C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1514G>A	2.37:g.74747143C>T	ENSP00000384621:p.Arg505His					DQX1_uc002smc.2_Missense_Mutation_p.R66H	p.R505H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			9	1679	-			505					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1514G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531258	0.13127	0.0	2.33E-4	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02606	4.23;4.23	5.05	-4.21	0.03812	Helicase-associated domain (2);	1.081660	0.07063	N	0.834076	T	0.06462	0.0166	M	0.84156	2.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.87932	D	0	-16.1698	12.4638	0.55747	0.0:0.2756:0.0:0.7244	.	505	Q8TE96	DQX1_HUMAN	H	505	ENSP00000377523:R505H;ENSP00000384621:R505H	ENSP00000377523:R505H	R	-	2	0	DQX1	74600651	0.000000	0.05858	0.135000	0.22099	0.956000	0.61745	-0.348000	0.07740	-1.348000	0.02205	-1.202000	0.01658	CGT		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
GDF5	8200	broad.mit.edu	37	20	34022173	34022173	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:34022173C>T	ENST00000374372.1	-	4	1543	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GDF5OS_ENST00000374375.1_Missense_Mutation_p.R73W|GDF5_ENST00000374369.3_Missense_Mutation_p.R347H			P43026	GDF5_HUMAN	growth differentiation factor 5	347					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTTCTTGGTGCGGCCAAACAC	0.632																																						uc002xck.1																			0					0						c.(1039-1041)CGC>CAC		growth differentiation factor 5 preproprotein							49.0	49.0	49.0					20																	34022173		2203	4298	6501	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022173C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1040G>A	20.37:g.34022173C>T	ENSP00000363492:p.Arg347His					GDF5_uc010gfc.1_Missense_Mutation_p.R347H|uc002xcj.2_Missense_Mutation_p.A195V|GDF5_uc010zvc.1_Missense_Mutation_p.R347H	p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1359	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		347					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.1040G>A	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581801|3.581801	0.65992|0.65992	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.81078|.	-1.45;-1.45|.	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.52240|0.52240	0.1722|0.1722	N|N	0.12182|0.12182	0.205|0.205	0.58432|0.58432	D|D	0.999998|0.999998	P;D|.	0.56746|.	0.909;0.977|.	B;B|.	0.43225|.	0.233;0.412|.	T|T	0.62506|0.62506	-0.6840|-0.6840	10|7	0.31617|0.87932	T|D	0.26|0	.|.	17.3838|17.3838	0.87411|0.87411	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	347;347|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	H|W	347|73	ENSP00000363489:R347H;ENSP00000363492:R347H|.	ENSP00000363489:R347H|ENSP00000363495:R73W	R|R	-|+	2|1	0|2	GDF5|GDF5OS	33485587|33485587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.534000|2.534000	0.45676|0.45676	2.311000|2.311000	0.77944|0.77944	0.491000|0.491000	0.48974|0.48974	CGC|CGG		0.632	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2		
LAMA5	3911	broad.mit.edu	37	20	60900398	60900398	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:60900398C>T	ENST00000252999.3	-	41	5569	c.5503G>A	c.(5503-5505)Gcc>Acc	p.A1835T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1835	Laminin EGF-like 16; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGTAGCTGGCGGGGCACAGG	0.672																																						uc002ycq.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(5503-5505)GCC>ACC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						27.0	28.0	28.0					20																	60900398		2202	4297	6499	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900398C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5503G>A	20.37:g.60900398C>T	ENSP00000252999:p.Ala1835Thr						p.A1835T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		41	5570	-	Breast(26;1.57e-08)		1835			Laminin EGF-like 16; second part.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.5503G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508773	0.85282	.	.	ENSG00000130702	ENST00000252999	T	0.61510	0.1	4.84	4.84	0.62591	EGF-like, laminin (2);EGF-like region, conserved site (1);	0.053861	0.64402	D	0.000001	T	0.69637	0.3133	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.67150	-0.5743	10	0.31617	T	0.26	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	1835	O15230	LAMA5_HUMAN	T	1835	ENSP00000252999:A1835T	ENSP00000252999:A1835T	A	-	1	0	LAMA5	60333793	0.998000	0.40836	0.999000	0.59377	0.841000	0.47740	3.888000	0.56204	2.220000	0.72140	0.555000	0.69702	GCC		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
OSBPL10	114884	broad.mit.edu	37	3	31921180	31921180	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:31921180A>G	ENST00000396556.2	-	2	546	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	OSBPL10_ENST00000438237.2_Missense_Mutation_p.Y142H	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	142	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTAGCAGAGTACACCACCAGC	0.483																																						uc003cev.2																			0				skin(1)	1						c.(424-426)TAC>CAC		oxysterol-binding protein-like protein 10							108.0	102.0	104.0					3																	31921180		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31921180A>G	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.424T>C	3.37:g.31921180A>G	ENSP00000379804:p.Tyr142His					OSBPL10_uc011axf.1_Missense_Mutation_p.Y142H	p.Y142H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	3	805	-			142			PH.		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.424T>C	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183899	0.38609	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.41400	1.0;2.32	5.62	5.62	0.85841	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.252332	0.39475	N	0.001341	T	0.27663	0.0680	N	0.16201	0.385	0.26525	N	0.974356	B;B	0.25772	0.134;0.031	B;B	0.24848	0.052;0.056	T	0.11251	-1.0595	10	0.17369	T	0.5	-16.283	15.8163	0.78604	1.0:0.0:0.0:0.0	.	142;142	B4E212;Q9BXB5	.;OSB10_HUMAN	H	142	ENSP00000379804:Y142H;ENSP00000406124:Y142H	ENSP00000379804:Y142H	Y	-	1	0	OSBPL10	31896184	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.136000	0.42121	2.142000	0.66516	0.459000	0.35465	TAC		0.483	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		
QRICH1	54870	broad.mit.edu	37	3	49064276	49064276	+	IGR	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:49064276G>A	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Silent_p.I221I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCGGGCAATGATGGCCACAA	0.527																																						uc003cvt.2																			0				lung(1)	1						c.(661-663)ATC>ATT		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						157.0	152.0	153.0					3																	49064276		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064276G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064276G>A							p.I221I	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	755	-			221			CBS 2.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.663C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816234	0.16607	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.97	4.2	0.49525	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53322	-0.8455	4	.	.	.	-20.1894	7.3153	0.26498	0.1368:0.0:0.6291:0.2341	.	.	.	.	Y	153	.	.	H	-	1	0	IMPDH2	49039280	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.118000	0.31246	0.872000	0.35775	0.655000	0.94253	CAT		0.527	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
HCLS1	3059	broad.mit.edu	37	3	121351248	121351248	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:121351248C>T	ENST00000314583.3	-	12	1262	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	HCLS1_ENST00000428394.2_Missense_Mutation_p.D354N|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	391					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGTTCATCCTCCTGCTCA	0.552																																						uc003eeh.3																			0					0						c.(1171-1173)GAT>AAT		hematopoietic cell-specific Lyn substrate 1							253.0	235.0	241.0					3																	121351248		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351248C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1171G>A	3.37:g.121351248C>T	ENSP00000320176:p.Asp391Asn					HCLS1_uc011bjj.1_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_RNA	p.D391N	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1296	-			391					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1171G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	8.970	0.972686	0.18736	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20200	2.11;2.09	5.03	-1.0	0.10196	.	1.278550	0.04839	N	0.440137	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33394	-0.9870	10	0.15066	T	0.55	-0.0531	8.6934	0.34280	0.0:0.4646:0.0:0.5354	.	354;391	E7EVW7;P14317	.;HCLS1_HUMAN	N	391;354	ENSP00000320176:D391N;ENSP00000387645:D354N	ENSP00000320176:D391N	D	-	1	0	HCLS1	122833938	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.098000	0.11024	-0.139000	0.11414	-0.258000	0.10820	GAT		0.552	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
LEKR1	389170	broad.mit.edu	37	3	156763431	156763431	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:156763431C>T	ENST00000470811.1	+	14	2394	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	LEKR1_ENST00000356539.4_Silent_p.G657G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	353										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTAGATCAGGCGTGCCCATTC	0.537																																						uc003fba.1																			0					0						c.(1057-1059)GGC>GGT		leucine, glutamate and lysine rich 1							76.0	83.0	81.0					3																	156763431		2203	4300	6503	SO:0001819	synonymous_variant	389170							g.chr3:156763431C>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.1059C>T	3.37:g.156763431C>T							p.G353G	NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	2394	+			Error:Variant_position_missing_in_D3DNK7_after_alignment						Silent	SNP	ENST00000470811.1	37	c.1059C>T																																																																																					0.537	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
ZNF595	152687	broad.mit.edu	37	4	60030	60030	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:60030A>T	ENST00000509152.2	+	3	395	c.210A>T	c.(208-210)acA>acT	p.T70T	ZNF595_ENST00000526473.2_Silent_p.T70T|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TACATGAGACAGCAGCCAAAC	0.468																																						uc003fzv.1																			0					0						c.(208-210)ACA>ACT		zinc finger protein 595							113.0	120.0	118.0					4																	60030		2180	4295	6475	SO:0001819	synonymous_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:60030A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.210A>T	4.37:g.60030A>T						ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.T70T|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	p.T70T	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	3	366	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	70						Silent	SNP	ENST00000509152.2	37	c.210A>T																																																																																					0.468	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	
UGT2A3	79799	broad.mit.edu	37	4	69795704	69795704	+	Missense_Mutation	SNP	C	C	A	rs373529001		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:69795704C>A	ENST00000251566.4	-	6	1441	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A182S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	471					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTGCTTGGCTCCTTTGTGG	0.488																																						uc003hef.2																			0				ovary(1)|skin(1)	2						c.(1411-1413)GCC>TCC		UDP glucuronosyltransferase 2 family,							90.0	90.0	90.0					4																	69795704		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795704C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1411G>T	4.37:g.69795704C>A	ENSP00000251566:p.Ala471Ser					UGT2A3_uc010ihp.1_RNA	p.A471S	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			6	1442	-			471			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1411G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599257	0.46318	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.71461	-0.57;-0.22	2.22	2.22	0.28083	.	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.93638	3.44	0.40578	D	0.981361	D	0.76494	0.999	D	0.74023	0.982	D	0.87747	0.2589	10	0.87932	D	0	.	10.0537	0.42233	0.0:1.0:0.0:0.0	.	471	Q6UWM9	UD2A3_HUMAN	S	471;182	ENSP00000251566:A471S;ENSP00000440115:A182S	ENSP00000251566:A471S	A	-	1	0	UGT2A3	69830293	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	6.537000	0.73847	1.248000	0.43934	0.491000	0.48974	GCC		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
HSPB3	8988	broad.mit.edu	37	5	53751481	53751481	+	5'UTR	SNP	T	T	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:53751481T>G	ENST00000302005.1	+	0	37					NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3						cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ATTAAGTGATTGCGTCTGGGC	0.488																																						uc003jph.1																			0					0						c.(-140--136)ATTGC>ATGGC		heat shock 27kDa protein 3																																				SO:0001623	5_prime_UTR_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751481T>G	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.-139T>G	5.37:g.53751481T>G								NM_006308	NP_006299	Q12988	HSPB3_HUMAN			1	37	+		Lung NSC(810;0.00104)							Translation_Start_Site	SNP	ENST00000302005.1	37	c.-138T>G	CCDS3961.1																																																																																				0.488	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
MAP3K1	4214	broad.mit.edu	37	5	56179395	56179395	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:56179395G>A	ENST00000399503.3	+	15	3708	c.3708G>A	c.(3706-3708)ccG>ccA	p.P1236P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1236					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383																																						uc003jqw.3																			0				ovary(1)|skin(1)	2						c.(3706-3708)CCG>CCA		mitogen-activated protein kinase kinase kinase							151.0	144.0	146.0					5																	56179395		1867	4086	5953	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56179395G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3708G>A	5.37:g.56179395G>A							p.P1236P	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	15	4209	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1236						Silent	SNP	ENST00000399503.3	37	c.3708G>A	CCDS43318.1																																																																																				0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
GPR98	84059	broad.mit.edu	37	5	89985863	89985863	+	Missense_Mutation	SNP	G	G	C	rs397517433		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:89985863G>C	ENST00000405460.2	+	30	6772	c.6676G>C	c.(6676-6678)Gag>Cag	p.E2226Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2226	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTATTATTGAGGCCTCTGA	0.378																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6676-6678)GAG>CAG		G protein-coupled receptor 98 precursor							34.0	33.0	33.0					5																	89985863		1832	4080	5912	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89985863G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6676G>C	5.37:g.89985863G>C	ENSP00000384582:p.Glu2226Gln					GPR98_uc003kjt.2_5'UTR	p.E2226Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	6772	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2226			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6676G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116234	0.56505	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27256	1.68	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (1);	0.174116	0.50627	D	0.000101	T	0.45054	0.1323	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.13845	-1.0494	10	0.36615	T	0.2	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2226	Q8WXG9	GPR98_HUMAN	Q	2226	ENSP00000384582:E2226Q	ENSP00000296619:E2226Q	E	+	1	0	GPR98	90021619	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.890000	0.63178	2.501000	0.84356	0.650000	0.86243	GAG		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
FTMT	94033	broad.mit.edu	37	5	121187869	121187869	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:121187869A>G	ENST00000321339.1	+	1	220	c.211A>G	c.(211-213)Aac>Gac	p.N71D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	71	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGTGCGCCAGAACTTCCACCC	0.692																																						uc003kss.2																			0				ovary(1)	1						c.(211-213)AAC>GAC		ferritin mitochondrial precursor							46.0	40.0	42.0					5																	121187869		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187869A>G	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.211A>G	5.37:g.121187869A>G	ENSP00000313691:p.Asn71Asp						p.N71D	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	220	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	71			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.211A>G	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177254	0.57692	.	.	ENSG00000181867	ENST00000321339	T	0.69175	-0.38	3.47	2.29	0.28610	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.86097	2.795	0.49389	D	0.99978	B	0.25772	0.134	B	0.38296	0.27	T	0.72037	-0.4411	10	0.87932	D	0	.	8.5223	0.33285	0.8042:0.1958:0.0:0.0	.	71	Q8N4E7	FTMT_HUMAN	D	71	ENSP00000313691:N71D	ENSP00000313691:N71D	N	+	1	0	FTMT	121215768	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.483000	0.60264	0.689000	0.31550	0.533000	0.62120	AAC		0.692	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
KCNMB1	3779	broad.mit.edu	37	5	169805757	169805757	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:169805757G>A	ENST00000274629.4	-	4	969	c.527C>T	c.(526-528)gCc>gTc	p.A176V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	176					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CTTCACCATGGCGATAATGAG	0.612																																						uc003maq.1																			0				ovary(2)	2						c.(526-528)GCC>GTC		potassium large conductance calcium-activated							90.0	91.0	91.0					5																	169805757		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805757G>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.527C>T	5.37:g.169805757G>A	ENSP00000274629:p.Ala176Val					KCNIP1_uc003map.2_Intron	p.A176V	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	927	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	176			Helical; Name=2; (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.527C>T	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733870	0.15574	.	.	ENSG00000145936	ENST00000274629	T	0.07688	3.17	5.31	-0.511	0.11970	.	0.565899	0.18261	N	0.146607	T	0.04003	0.0112	N	0.17082	0.46	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.42982	-0.9419	9	.	.	.	.	5.5414	0.17039	0.3803:0.1421:0.4776:0.0	.	176	Q16558	KCMB1_HUMAN	V	176	ENSP00000274629:A176V	.	A	-	2	0	KCNMB1	169738335	0.326000	0.24669	0.859000	0.33776	0.869000	0.49853	0.467000	0.22035	-0.019000	0.14055	0.591000	0.81541	GCC		0.612	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3		
DSP	1832	broad.mit.edu	37	6	7581800	7581800	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:7581800G>A	ENST00000379802.3	+	23	5718	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1793	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCTTTAGAGGTATTCAC	0.383																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5377-5379)GAG>AAG		desmoplakin isoform I							44.0	50.0	48.0					6																	7581800		2199	4297	6496	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581800G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5377G>A	6.37:g.7581800G>A	ENSP00000369129:p.Glu1793Lys					DSP_uc003mxq.1_Intron	p.E1793K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5656	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1793			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5377G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454358	0.43634	.	.	ENSG00000096696	ENST00000379802	T	0.63417	-0.04	6.02	6.02	0.97574	.	0.088251	0.48767	D	0.000163	T	0.63943	0.2554	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.58820	0.846	T	0.53920	-0.8370	10	0.20519	T	0.43	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1793	P15924	DESP_HUMAN	K	1793	ENSP00000369129:E1793K	ENSP00000369129:E1793K	E	+	1	0	DSP	7526799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.876000	0.87215	2.865000	0.98341	0.655000	0.94253	GAG		0.383	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
MAS1L	116511	broad.mit.edu	37	6	29455047	29455047	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:29455047G>A	ENST00000377127.3	-	1	691	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1																			0				ovary(7)|lung(2)	9						c.(631-633)TTC>TTT		MAS1 oncogene-like							59.0	58.0	58.0					6																	29455047		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455047G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.633C>T	6.37:g.29455047G>A							p.F211F	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	633	-			211			Extracellular (Potential).		Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.633C>T	CCDS4661.1																																																																																				0.433	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
MDN1	23195	broad.mit.edu	37	6	90360511	90360511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:90360511G>A	ENST00000369393.3	-	96	16086	c.15971C>T	c.(15970-15972)tCa>tTa	p.S5324L	MDN1_ENST00000428876.1_Missense_Mutation_p.S5324L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5324					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAACCGTTGTGAAAGAGGCGC	0.493																																						uc003pnn.1																			0				ovary(8)|skin(2)	10						c.(15970-15972)TCA>TTA		MDN1, midasin homolog							137.0	126.0	130.0					6																	90360511		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90360511G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15971C>T	6.37:g.90360511G>A	ENSP00000358400:p.Ser5324Leu						p.S5324L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	96	16087	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5324					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15971C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274002	0.59649	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.59	5.59	0.84812	.	0.079544	0.52532	D	0.000072	T	0.53883	0.1824	M	0.88979	2.995	0.58432	D	0.999999	D	0.59767	0.986	P	0.48304	0.573	T	0.66296	-0.5959	10	0.87932	D	0	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	5324	Q9NU22	MDN1_HUMAN	L	5324	ENSP00000358400:S5324L;ENSP00000413970:S5324L	ENSP00000358400:S5324L	S	-	2	0	MDN1	90417232	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.118000	0.94355	2.797000	0.96272	0.563000	0.77884	TCA		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
TMEM200A	114801	broad.mit.edu	37	6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T	rs267600806		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:130762228C>T	ENST00000296978.3	+	3	1532	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_ENST00000392429.1_Nonsense_Mutation_p.R221*|TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.R221*	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	221						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478																																						uc003qca.2																			0				ovary(1)	1						c.(661-663)CGA>TGA		transmembrane protein 200A		C	stop/ARG	0,4406		0,0,2203	56.0	55.0	55.0		661	5.7	1.0	6		55	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TMEM200A	NM_052913.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		221/492	130762228	1,13005	2203	4300	6503	SO:0001587	stop_gained	114801					integral to membrane		g.chr6:130762228C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.661C>T	6.37:g.130762228C>T	ENSP00000296978:p.Arg221*					TMEM200A_uc010kfh.2_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.2_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.2_Nonsense_Mutation_p.R221*	p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1532	+			221			Cytoplasmic (Potential).		Q96PX5	Nonsense_Mutation	SNP	ENST00000296978.3	37	c.661C>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	53	20.592529	0.99932	0.0	1.16E-4	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.7	5.7	0.88788	.	0.186727	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5529	13.7954	0.63168	0.2556:0.7444:0.0:0.0	.	.	.	.	X	221	.	ENSP00000296978:R221X	R	+	1	2	TMEM200A	130803921	0.678000	0.27586	0.984000	0.44739	0.656000	0.38851	1.674000	0.37544	2.692000	0.91855	0.655000	0.94253	CGA		0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
ZNF727	442319	broad.mit.edu	37	7	63538251	63538252	+	Frame_Shift_Ins	INS	-	-	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:63538251_63538252insG	ENST00000550760.3	+	4	1003_1004	c.824_825insG	c.(823-828)aagagafs	p.R276fs	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ACTAAACATAAGAGAATTCATA	0.391																																						uc011kdm.1																			0					0						c.(823-825)AAGfs		zinc finger protein 727																																				SO:0001589	frameshift_variant	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538251_63538252insG			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.825dupG	7.37:g.63538252_63538252dupG	ENSP00000447987:p.Arg276fs						p.K275fs	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			4	1003_1004	+			275			C2H2-type 4.			Frame_Shift_Ins	INS	ENST00000550760.3	37	c.824_825insG	CCDS55113.1																																																																																				0.391	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
SSC4D	136853	broad.mit.edu	37	7	76033672	76033672	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:76033672G>A	ENST00000275560.3	-	2	432	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.P29A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572																																						uc003ufb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(85-87)CCT>TCT		scavenger receptor cysteine rich domain							118.0	106.0	110.0					7																	76033672		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033672G>A																												ENST00000275560.3:c.85C>T	7.37:g.76033672G>A	ENSP00000275560:p.Pro29Ser					ZP3_uc003ufc.3_Intron	p.P29S	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			2	433	-			29						Missense_Mutation	SNP	ENST00000275560.3	37	c.85C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	g	9.070	0.996632	0.19043	.	.	ENSG00000146700	ENST00000275560	T	0.01178	5.22	4.99	2.22	0.28083	.	0.382752	0.24757	N	0.035844	T	0.01320	0.0043	L	0.60455	1.87	0.09310	N	0.999997	B	0.27498	0.18	B	0.24269	0.052	T	0.45411	-0.9263	10	0.30854	T	0.27	.	4.2933	0.10888	0.185:0.0:0.6335:0.1815	.	29	Q8WTU2	SRB4D_HUMAN	S	29	ENSP00000275560:P29S	ENSP00000275560:P29S	P	-	1	0	SRCRB4D	75871608	0.001000	0.12720	0.003000	0.11579	0.067000	0.16453	0.253000	0.18296	0.837000	0.34925	-0.231000	0.12243	CCT		0.572	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
AKR1B15	441282	broad.mit.edu	37	7	134254273	134254273	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:134254273G>A	ENST00000457545.2	+	5	687	c.427G>A	c.(427-429)Gga>Aga	p.G143R	AKR1B15_ENST00000423958.1_Missense_Mutation_p.G115R	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	143							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGGCCACAGGGATTCAAGGT	0.507																																						uc011kpr.1																			0				ovary(1)	1						c.(427-429)GGA>AGA		aldo-keto reductase family 1, member B15							126.0	121.0	123.0					7																	134254273		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134254273G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.427G>A	7.37:g.134254273G>A	ENSP00000389289:p.Gly143Arg					AKR1B15_uc003vrt.2_Missense_Mutation_p.G115R|AKR1B15_uc011kps.1_Missense_Mutation_p.G115R	p.G143R	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			5	726	+			143					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.427G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	15.10	2.734426	0.48939	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.21734	1.99;1.99	2.72	2.72	0.32119	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.38558	0.1045	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.983	T	0.26292	-1.0107	9	0.87932	D	0	.	11.2078	0.48780	0.0:0.0:1.0:0.0	.	115;143;121	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	R	143;115	ENSP00000389289:G143R;ENSP00000397009:G115R	ENSP00000397009:G115R	G	+	1	0	AKR1B15	133904813	0.044000	0.20184	0.953000	0.39169	0.103000	0.19146	0.199000	0.17237	1.516000	0.48900	0.405000	0.27470	GGA		0.507	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		
ZC3HAV1	56829	broad.mit.edu	37	7	138794019	138794019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:138794019C>T	ENST00000242351.5	-	1	375	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R20H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R20H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	20	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGGCCATGCGGCCCCCGTG	0.701																																						uc003vun.2																			0				ovary(1)	1						c.(58-60)CGC>CAC		zinc finger antiviral protein isoform 1							12.0	16.0	15.0					7																	138794019		2177	4280	6457	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138794019C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.59G>A	7.37:g.138794019C>T	ENSP00000242351:p.Arg20His					ZC3HAV1_uc003vup.2_Missense_Mutation_p.R20H	p.R20H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			1	447	-			20					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.59G>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501623	0.85176	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.36520	1.25;1.25;1.25	4.52	4.52	0.55395	.	0.000000	0.51477	D	0.000082	T	0.58708	0.2141	M	0.76002	2.32	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.62478	-0.6846	10	0.72032	D	0.01	.	12.9151	0.58200	0.0:1.0:0.0:0.0	.	20;20	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	H	20	ENSP00000242351:R20H;ENSP00000418385:R20H;ENSP00000419855:R20H	ENSP00000242351:R20H	R	-	2	0	ZC3HAV1	138444559	0.993000	0.37304	0.998000	0.56505	0.726000	0.41606	2.593000	0.46180	2.505000	0.84491	0.491000	0.48974	CGC		0.701	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
PRSS1	5644	broad.mit.edu	37	7	142459677	142459677	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:142459677G>A	ENST00000311737.7	+	3	259	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PRSS1_ENST00000486171.1_Missense_Mutation_p.E99K	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.E85Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGAGGGGAATGAGCAGTTCAT	0.547																																						uc003wak.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(253-255)GAG>AAG		protease, serine, 1 preproprotein							233.0	216.0	222.0					7																	142459677		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459677G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.253G>A	7.37:g.142459677G>A	ENSP00000308720:p.Glu85Lys					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	p.E85K	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	270	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	85			Peptidase S1.	Calcium.	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.253G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529845	0.64860	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000492062	D;D;D	0.88896	-2.44;-2.44;-2.44	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.93478	0.6825	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	99;85	E7EQ64;P07477	.;TRY1_HUMAN	K	99;85;35	ENSP00000417854:E99K;ENSP00000308720:E85K;ENSP00000419912:E35K	ENSP00000308720:E85K	E	+	1	0	PRSS1	142139251	1.000000	0.71417	0.417000	0.26559	0.174000	0.22865	7.729000	0.84864	1.789000	0.52484	0.398000	0.26397	GAG		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
POLB	5423	broad.mit.edu	37	8	42220141	42220141	+	Silent	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:42220141A>G	ENST00000265421.4	+	11	803	c.633A>G	c.(631-633)ttA>ttG	p.L211L	POLB_ENST00000538005.1_Silent_p.L57L	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	211					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAAAACTGTTACATCAGGTTG	0.333								DNA polymerases (catalytic subunits)																														uc003xoz.1																			0				ovary(1)|breast(1)	2						c.(631-633)TTA>TTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase beta	Cytarabine(DB00987)						86.0	84.0	85.0					8																	42220141		2203	4300	6503	SO:0001819	synonymous_variant	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42220141A>G		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.633A>G	8.37:g.42220141A>G						POLB_uc003xpa.1_Intron|POLB_uc011lcs.1_Silent_p.L57L	p.L211L	NM_002690	NP_002681	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		11	746	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	211					B2RC78|Q3KP48|Q6FI34	Silent	SNP	ENST00000265421.4	37	c.633A>G	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	A	0.707	-0.788503	0.02884	.	.	ENSG00000070501	ENST00000518579;ENST00000517393	.	.	.	5.96	1.0	0.19881	.	.	.	.	.	T	0.54679	0.1873	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44952	-0.9294	4	.	.	.	0.1379	7.8338	0.29358	0.4851:0.0:0.5149:0.0	.	.	.	.	C	69;27	.	.	Y	+	2	0	POLB	42339298	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	0.723000	0.25939	0.176000	0.19873	-0.256000	0.11100	TAC		0.333	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	
FAM83H	286077	broad.mit.edu	37	8	144808347	144808347	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:144808347C>T	ENST00000388913.3	-	5	3409	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1095					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGTCCGAGCGGAAGATGGC	0.697																																						uc003yzk.2																			0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3283-3285)CGC>CAC		FAM83H							14.0	16.0	15.0					8																	144808347		1997	4166	6163	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808347C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3284G>A	8.37:g.144808347C>T	ENSP00000373565:p.Arg1095His					FAM83H_uc010mfk.1_RNA	p.R1095H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3353	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1095					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3284G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211359	0.39102	.	.	ENSG00000180921	ENST00000388913	T	0.20069	2.1	4.96	4.08	0.47627	.	0.324779	0.21595	U	0.072028	T	0.22205	0.0535	L	0.32530	0.975	0.28416	N	0.917959	D	0.67145	0.996	P	0.47528	0.549	T	0.03887	-1.0995	10	0.54805	T	0.06	.	13.8572	0.63534	0.1538:0.8462:0.0:0.0	.	1095	Q6ZRV2	FA83H_HUMAN	H	1095	ENSP00000373565:R1095H	ENSP00000373565:R1095H	R	-	2	0	FAM83H	144880335	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	3.030000	0.49720	1.083000	0.41159	0.556000	0.70494	CGC		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
TONSL	4796	broad.mit.edu	37	8	145661200	145661200	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:145661200G>A	ENST00000409379.3	-	17	2645	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	872					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCGGGCACGGGGCCTGCTCT	0.692																																						uc011llg.1																			0					0						c.(2614-2616)CCC>CCT		NF-kappa-B inhibitor-like protein 2							41.0	50.0	47.0					8																	145661200		2196	4292	6488	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661200G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2616C>T	8.37:g.145661200G>A						uc011llh.1_Intron	p.P872P	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2631	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		872					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.2616C>T	CCDS34968.2																																																																																				0.692	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
CNTRL	11064	broad.mit.edu	37	9	123912528	123912528	+	Missense_Mutation	SNP	T	T	C	rs145241861		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:123912528T>C	ENST00000373855.1	+	25	3990	c.3730T>C	c.(3730-3732)Tac>Cac	p.Y1244H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Y1244H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Y692H|CNTRL_ENST00000373847.1_Missense_Mutation_p.Y692H			Q7Z7A1	CNTRL_HUMAN	centriolin	1244	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCCTCCTGGATACATGATGTA	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		19259	0.0		0.001	False		,,,				2504	0.0					uc004bkx.1																			0					0						c.(3730-3732)TAC>CAC		centrosomal protein 110kDa		T	HIS/TYR	0,4406		0,0,2203	204.0	162.0	176.0		3730	5.5	1.0	9	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTRL	NM_007018.4	83	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	1244/2326	123912528	1,13005	2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912528T>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3730T>C	9.37:g.123912528T>C	ENSP00000362962:p.Tyr1244His					CEP110_uc004bky.1_Missense_Mutation_p.Y848H|CEP110_uc004bla.1_Missense_Mutation_p.Y692H|CEP110_uc010mvo.1_5'UTR|CEP110_uc004blb.1_5'Flank	p.Y1244H	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			23	3761	+			1244			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3730T>C	CCDS35118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	19.42	3.824495	0.71143	0.0	1.16E-4	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.41400	1.59;1.59;1.59;1.0	5.46	5.46	0.80206	.	.	.	.	.	T	0.54255	0.1847	L	0.57536	1.79	0.25882	N	0.983575	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.51450	-0.8704	9	0.66056	D	0.02	.	10.4191	0.44340	0.155:0.0:0.0:0.845	.	1244;1244	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	1244;1244;1244;726;692;692	ENSP00000362962:Y1244H;ENSP00000238341:Y1244H;ENSP00000362956:Y692H;ENSP00000362953:Y692H	ENSP00000238341:Y1244H	Y	+	1	0	CNTRL	122952349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.592000	0.46171	2.073000	0.62155	0.533000	0.62120	TAC		0.502	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T	rs369180922		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					uc004cfe.2																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(361-363)AAC>AAT		alpha 1 type V collagen preproprotein		C		0,4406		0,0,2203	91.0	91.0	91.0		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T							p.N121N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	745	+		Myeloproliferative disorder(178;0.0341)	121			TSP N-terminal.|Laminin G-like.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SOHLH1	402381	broad.mit.edu	37	9	138586241	138586241	+	Missense_Mutation	SNP	G	G	A	rs538962017		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:138586241G>A	ENST00000298466.5	-	7	998	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S313L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	313					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCCGGCCACGAGCTGGGACC	0.637																																						uc004cgl.2																			0				breast(1)|central_nervous_system(1)	2						c.(937-939)TCG>TTG		spermatogenesis and oogenesis specific basic							67.0	60.0	62.0					9																	138586241		2202	4300	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586241G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.938C>T	9.37:g.138586241G>A	ENSP00000298466:p.Ser313Leu					SOHLH1_uc010nbe.2_Missense_Mutation_p.S313L	p.S313L	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	999	-		Myeloproliferative disorder(178;0.0511)	313					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.938C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	9.451	1.090584	0.20471	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.32753	1.44;1.46	4.08	1.17	0.20885	.	0.293956	0.18805	N	0.130687	T	0.14313	0.0346	N	0.14661	0.345	0.20703	N	0.999867	B;B	0.24368	0.072;0.102	B;B	0.17433	0.018;0.008	T	0.17561	-1.0365	10	0.30078	T	0.28	-22.8919	6.0163	0.19605	0.0:0.5562:0.3367:0.1071	.	313;313	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	313	ENSP00000298466:S313L;ENSP00000404438:S313L	ENSP00000298466:S313L	S	-	2	0	SOHLH1	137726062	0.973000	0.33851	0.941000	0.38009	0.006000	0.05464	0.175000	0.16762	0.493000	0.27837	-1.466000	0.01016	TCG		0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
