#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SYT16	83851	broad.mit.edu	37	14	62547859	62547859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	ENST00000430451.2	+	4	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	434	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGTGCTGTCCGCTTCCGCCTG	0.572																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1300-1302)cGc>cAc		synaptotagmin XVI							33.0	37.0	36.0					14																	62547859		2179	4289	6468	SO:0001583	missense	83851							g.chr14:62547859G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1301G>A	14.37:g.62547859G>A	ENSP00000394700:p.Arg434His					RP11-355I22.5_ENST00000553990.1_lincRNA	p.R434H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1498	+			434			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1301G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005106	0.74932	.	.	ENSG00000139973	ENST00000430451	T	0.68624	-0.34	4.96	4.07	0.47477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.055212	0.64402	D	0.000001	T	0.70753	0.3260	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66945	-0.5795	10	0.30854	T	0.27	-30.5378	14.2484	0.66004	0.0754:0.0:0.9246:0.0	.	434	Q17RD7	SYT16_HUMAN	H	434	ENSP00000394700:R434H	ENSP00000394700:R434H	R	+	2	0	SYT16	61617612	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.695000	0.84257	2.731000	0.93534	0.650000	0.86243	CGC		0.572	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		13	18	0	0	0	0.479597	0	13	18				
WDR6	11180	broad.mit.edu	37	3	49049692	49049692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	ENST00000608424.1	+	2	764	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	WDR6_ENST00000395474.3_Missense_Mutation_p.R272Q|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	242					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(814-816)cGa>cAa		WD repeat domain 6							90.0	94.0	93.0					3																	49049692		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049692G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.725G>A	3.37:g.49049692G>A	ENSP00000477389:p.Arg242Gln					WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR	p.R272Q	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1095	+			242					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.815G>A		.	.	.	.	.	.	.	.	.	.	G	18.01	3.527910	0.64860	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.90133	0.17;-2.62	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.134805	0.50627	D	0.000106	D	0.89556	0.6749	L	0.28740	0.885	0.28954	N	0.890221	D;D;P	0.89917	0.999;1.0;0.678	P;P;B	0.62382	0.815;0.901;0.063	T	0.81616	-0.0852	10	0.13853	T	0.58	-23.7477	11.6117	0.51064	0.0835:0.0:0.9165:0.0	.	113;242;191	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	Q	272;191	ENSP00000378857:R272Q;ENSP00000413432:R191Q	ENSP00000378857:R272Q	R	+	2	0	WDR6	49024696	0.989000	0.36119	0.980000	0.43619	0.891000	0.51852	4.558000	0.60789	2.650000	0.89964	0.561000	0.74099	CGA		0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			44	64	0	0	0	0.870114	0	44	64				
DSP	1832	broad.mit.edu	37	6	7585482	7585482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:7585482C>T	ENST00000379802.3	+	24	8328	c.7987C>T	c.(7987-7989)Cca>Tca	p.P2663S	DSP_ENST00000418664.2_Missense_Mutation_p.P2064S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2663	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				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)		CATCATCCACCCAACCACGGG	0.562																																						ENST00000379802.3																			0				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						c.(7987-7989)Cca>Tca		desmoplakin							93.0	90.0	91.0					6																	7585482		2203	4300	6503	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.chr6:7585482C>T	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.7987C>T	6.37:g.7585482C>T	ENSP00000369129:p.Pro2663Ser					DSP_ENST00000418664.2_Missense_Mutation_p.P2064S	p.P2663S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8328	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2663			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7987C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737864	0.69304	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.87334	-2.24;-2.24	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000008	D	0.93432	0.7905	M	0.81802	2.56	0.47341	D	0.999392	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92850	0.6296	10	0.56958	D	0.05	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	2111;2663	Q4LE79;P15924	.;DESP_HUMAN	S	2663;2064	ENSP00000369129:P2663S;ENSP00000396591:P2064S	ENSP00000369129:P2663S	P	+	1	0	DSP	7530481	1.000000	0.71417	0.992000	0.48379	0.552000	0.35366	7.818000	0.86416	2.741000	0.93983	0.650000	0.86243	CCA		0.562	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	111	0	0	0	0.150653	0	4	111				
FBXO46	23403	broad.mit.edu	37	19	46216180	46216180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	ENST00000317683.3	-	2	707	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(574-576)Cga>Tga		F-box protein 46							12.0	15.0	14.0					19																	46216180		2002	4147	6149	SO:0001587	stop_gained	23403						protein binding	g.chr19:46216180G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.574C>T	19.37:g.46216180G>A	ENSP00000410007:p.Arg192*						p.R192*	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	707	-		Ovarian(192;0.179)|all_neural(266;0.224)	192						Nonsense_Mutation	SNP	ENST00000317683.3	37	c.574C>T	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016794	0.35606	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-19.276	11.743	0.51804	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000410007:R192X	R	-	1	2	FBXO46	50908020	0.001000	0.12720	0.334000	0.25495	0.092000	0.18411	0.654000	0.24918	2.136000	0.66102	0.462000	0.41574	CGA		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		7	9	0	0	0	0.248553	0	7	9				
CREBBP	1387	broad.mit.edu	37	16	3781317	3781317	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	ENST00000262367.5	-	30	5857	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1683	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1683H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.R1683H(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(5047-5049)cGc>cCc		CREB binding protein							87.0	61.0	70.0					16																	3781317		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781317C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5048G>C	16.37:g.3781317C>G	ENSP00000262367:p.Arg1683Pro					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P	p.R1683P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5857	-		Ovarian(90;0.0266)	1683			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5048G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.92	3.507872	0.64410	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.92805	-3.11;-3.01	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.97709	1.0189	10	0.87932	D	0	-23.6306	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1713;1683	Q4LE28;Q92793	.;CBP_HUMAN	P	1683;1713;1645;218	ENSP00000262367:R1683P;ENSP00000371502:R1645P	ENSP00000262367:R1683P	R	-	2	0	CREBBP	3721318	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	CGC		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		13	7	0	0	0	0.435327	0	13	7				
SI	6476	broad.mit.edu	37	3	164741401	164741401	+	Missense_Mutation	SNP	C	C	T	rs562524905		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	ENST00000264382.3	-	26	3118	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1019	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACCTCCACACGAAGAGTTGA	0.388										HNSCC(35;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.0					ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3055-3057)cGt>cAt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						127.0	120.0	122.0					3																	164741401		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741401C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3056G>A	3.37:g.164741401C>T	ENSP00000264382:p.Arg1019His	HNSCC(35;0.089)					p.R1019H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	3118	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1019			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3056G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230513	0.58777	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	5.39	4.52	0.55395	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.86343	2.81	0.52099	D	0.999943	B	0.31599	0.33	B	0.18561	0.022	T	0.05767	-1.0865	10	0.52906	T	0.07	.	14.178	0.65555	0.0:0.9274:0.0:0.0726	.	1019	P14410	SUIS_HUMAN	H	1019	ENSP00000264382:R1019H	ENSP00000264382:R1019H	R	-	2	0	SI	166224095	0.899000	0.30636	0.984000	0.44739	0.987000	0.75469	1.691000	0.37721	1.505000	0.48720	0.655000	0.94253	CGT		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		27	56	0	0	0	0.706142	0	27	56				
ATXN2	6311	broad.mit.edu	37	12	111908030	111908030	+	Silent	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	ENST00000377617.3	-	20	3359	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000608853.1_Silent_p.Y906Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1066	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3196-3198)taT>taC		ataxin 2							149.0	125.0	133.0					12																	111908030		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111908030A>G	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3198T>C	12.37:g.111908030A>G						ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y|ATXN2_ENST00000550104.1_3'UTR	p.Y1066Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			20	3359	-			1066			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3198T>C	CCDS31902.1																																																																																				0.418	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		33	52	0	0	0	0.788014	0	33	52				
GIGYF2	26058	broad.mit.edu	37	2	233674460	233674460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	ENST00000409547.1	+	18	2148	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	613	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1903-1905)Cag>Tag		GRB10 interacting GYF protein 2							120.0	110.0	114.0					2																	233674460		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233674460C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1837C>T	2.37:g.233674460C>T	ENSP00000386537:p.Gln613*					GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613*	p.Q635*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	17	2100	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	613			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.1903C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	41	8.826995	0.98968	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-16.8724	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	635;556;613;635;613;613;556;607;634;607;444	.	ENSP00000362664:Q613X	Q	+	1	0	GIGYF2	233382704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.276000	0.78559	2.882000	0.98803	0.655000	0.94253	CAG		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		16	51	0	0	0	0.539581	0	16	51				
P2RY2	5029	broad.mit.edu	37	11	72945405	72945405	+	Silent	SNP	G	G	A	rs543772574		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	ENST00000311131.2	+	3	668	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_ENST00000393597.2_Silent_p.A67A|P2RY2_ENST00000393596.2_Silent_p.A67A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.001					ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(199-201)gcG>gcA		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						204.0	165.0	178.0					11																	72945405		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945405G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.201G>A	11.37:g.72945405G>A						P2RY2_ENST00000393596.2_Silent_p.A67A|P2RY2_ENST00000393597.2_Silent_p.A67A	p.A67A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	668	+			67					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.201G>A	CCDS8219.1																																																																																				0.612	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		18	37	0	0	0	0.539581	0	18	37				
DYNC2H1	79659	broad.mit.edu	37	11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	ENST00000375735.2	+	2	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	112	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(334-336)Gta>Ata		dynein, cytoplasmic 2, heavy chain 1							117.0	107.0	110.0					11																	102984404		1844	4089	5933	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102984404G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.334G>A	11.37:g.102984404G>A	ENSP00000364887:p.Val112Ile					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I	p.V112I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	2	478	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	112			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.334G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004395	0.54254	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.35605	1.62;1.3;1.62	6.17	5.25	0.73442	.	0.236689	0.26812	U	0.022364	T	0.40570	0.1122	M	0.77103	2.36	0.48571	D	0.999671	B;B;B	0.23377	0.084;0.024;0.072	B;B;B	0.24394	0.05;0.031;0.053	T	0.28808	-1.0032	10	0.46703	T	0.11	.	11.5015	0.50441	0.0652:0.0:0.8107:0.1241	.	112;112;112	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	I	112	ENSP00000364887:V112I;ENSP00000334021:V112I;ENSP00000381167:V112I	ENSP00000334021:V112I	V	+	1	0	DYNC2H1	102489614	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.310000	0.51911	2.941000	0.99782	0.655000	0.94253	GTA		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		20	37	0	0	0	0.624587	0	20	37				
SLC46A2	57864	broad.mit.edu	37	9	115648895	115648895	+	Splice_Site	SNP	T	T	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	ENST00000374228.4	-	3	1446	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	405					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.e3-1		solute carrier family 46, member 2							165.0	123.0	137.0					9																	115648895		2203	4300	6503	SO:0001630	splice_region_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115648895T>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1214-1A>C	9.37:g.115648895T>G							p.G405_splice	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			3	1446	-			405					B1ALK1|Q86VT0|Q96NE2	Splice_Site	SNP	ENST00000374228.4	37	c.1213_splice	CCDS6786.1																																																																																				0.542	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	Silent	20	37	0	0	0	0.575678	0	20	37				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	49	0	0	0	0.150653	0	3	49				
GUCY2F	2986	broad.mit.edu	37	X	108719025	108719025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	ENST00000218006.2	-	2	432	c.141G>T	c.(139-141)caG>caT	p.Q47H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	47					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(139-141)caG>caT		guanylate cyclase 2F, retinal							83.0	70.0	74.0					X																	108719025		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719025C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.141G>T	X.37:g.108719025C>A	ENSP00000218006:p.Gln47His		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.Q47H	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	432	-			47					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.141G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391359	0.25118	.	.	ENSG00000101890	ENST00000218006	T	0.78707	-1.2	4.42	0.121	0.14695	.	0.733782	0.12990	N	0.422561	T	0.56093	0.1962	N	0.19112	0.55	0.09310	N	1	P	0.34955	0.477	B	0.36766	0.232	T	0.44467	-0.9326	10	0.14252	T	0.57	.	2.9516	0.05864	0.2002:0.3881:0.0:0.4117	.	47	P51841	GUC2F_HUMAN	H	47	ENSP00000218006:Q47H	ENSP00000218006:Q47H	Q	-	3	2	GUCY2F	108605681	0.008000	0.16893	0.000000	0.03702	0.862000	0.49288	0.362000	0.20284	-0.128000	0.11641	0.600000	0.82982	CAG		0.567	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		32	48	1	0	1.62565e-12	0.760397	1.81413e-12	32	48				
CDH6	1004	broad.mit.edu	37	5	31323148	31323148	+	Silent	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	ENST00000265071.2	+	12	2371	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	702					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2104-2106)cgG>cgT		cadherin 6, type 2, K-cadherin (fetal kidney)							76.0	73.0	74.0					5																	31323148		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323148G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2106G>T	5.37:g.31323148G>T							p.R702R	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2371	+			702					A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2106G>T	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		15	24	1	0	2.62699e-14	0.479597	2.97468e-14	15	24				
SYT16	83851	broad.mit.edu	37	14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A	rs376542046		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	ENST00000430451.2	+	6	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20804	0.0		0.0	False		,,,				2504	0.0					ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1675-1677)cGt>cAt		synaptotagmin XVI		G	HIS/ARG	1,3849		0,1,1924	66.0	60.0	62.0		1676	3.8	1.0	14		62	2,8230		0,2,4114	no	missense	SYT16	NM_031914.2	29	0,3,6038	AA,AG,GG		0.0243,0.026,0.0248	probably-damaging	559/646	62567163	3,12079	1925	4116	6041	SO:0001583	missense	83851							g.chr14:62567163G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1676G>A	14.37:g.62567163G>A	ENSP00000394700:p.Arg559His						p.R559H	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	6	1873	+			559			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1676G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447922	0.63178	2.6E-4	2.43E-4	ENSG00000139973	ENST00000430451	T	0.70986	-0.53	5.61	3.77	0.43336	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	0.67097	0.2857	L	0.53617	1.68	0.80722	D	1	B	0.30439	0.279	B	0.34931	0.192	T	0.69457	-0.5140	10	0.66056	D	0.02	-6.5246	11.8315	0.52299	0.1417:0.0:0.8583:0.0	.	559	Q17RD7	SYT16_HUMAN	H	559	ENSP00000394700:R559H	ENSP00000394700:R559H	R	+	2	0	SYT16	61636916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.878000	0.56130	1.358000	0.45922	0.655000	0.94253	CGT		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		11	16	0	0	0	0.411799	0	11	16				
TYK2	7297	broad.mit.edu	37	19	10465220	10465220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	ENST00000525621.1	-	19	3164	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C|TYK2_ENST00000529422.1_5'Flank	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	895					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2683-2685)Cgc>Tgc		tyrosine kinase 2							70.0	73.0	72.0					19																	10465220		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10465220G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2683C>T	19.37:g.10465220G>A	ENSP00000431885:p.Arg895Cys					TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C	p.R895C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		19	3164	-			895					Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2683C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825212	0.90955	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.89485	-2.52;-2.52;-2.52	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000051	D	0.90631	0.7062	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	-41.2063	16.7626	0.85516	0.0:0.0:1.0:0.0	.	895	P29597	TYK2_HUMAN	C	710;895;895;642	ENSP00000433203:R710C;ENSP00000431885:R895C;ENSP00000264818:R895C	ENSP00000264818:R895C	R	-	1	0	TYK2	10326220	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.888000	0.63164	2.574000	0.86865	0.655000	0.94253	CGC		0.577	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			17	50	0	0	0	0.520397	0	17	50				
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		zinc finger protein 280B							110.0	105.0	107.0					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2081	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	174	0	0	0	0.150653	0	4	174				
ZNF624	57547	broad.mit.edu	37	17	16527452	16527452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	ENST00000311331.7	-	6	839	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(748-750)Gag>Tag		zinc finger protein 624							129.0	135.0	133.0					17																	16527452		2203	4300	6503	SO:0001587	stop_gained	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527452C>A	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.748G>T	17.37:g.16527452C>A	ENSP00000310472:p.Glu250*						p.E250*	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	839	-			250					Q3SY62|Q3SY63|Q6ZN27	Nonsense_Mutation	SNP	ENST00000311331.7	37	c.748G>T	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174210	0.38413	.	.	ENSG00000197566	ENST00000311331	.	.	.	3.47	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.0854	0.25254	0.0:0.7603:0.0:0.2397	.	.	.	.	X	250	.	ENSP00000310472:E250X	E	-	1	0	ZNF624	16468177	0.000000	0.05858	0.262000	0.24481	0.156000	0.22039	-0.077000	0.11394	0.813000	0.34350	0.563000	0.77884	GAG		0.373	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		67	74	1	0	2.165e-29	0.870114	2.52583e-29	67	74				
GPR110	266977	broad.mit.edu	37	6	46996743	46996743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	ENST00000371253.2	-	2	270	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_ENST00000371243.2_Missense_Mutation_p.G19S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	19					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(55-57)Ggt>Agt		G protein-coupled receptor 110							138.0	109.0	119.0					6																	46996743		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46996743C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.55G>A	6.37:g.46996743C>T	ENSP00000360299:p.Gly19Ser					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G19S	p.G19S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			2	270	-			19					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.55G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033489	0.19590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.31510	1.49	4.48	-2.16	0.07080	.	1.942450	0.02509	N	0.091272	T	0.07593	0.0191	L	0.36672	1.1	0.09310	N	1	B;B	0.33022	0.394;0.168	B;B	0.25506	0.061;0.019	T	0.16482	-1.0401	10	0.38643	T	0.18	3.2058	5.5982	0.17339	0.0:0.3197:0.4192:0.2612	.	19;19	Q5T601-2;Q5T601	.;GP110_HUMAN	S	19	ENSP00000360299:G19S	ENSP00000360289:G19S	G	-	1	0	GPR110	47104702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.314000	0.08092	-0.583000	0.05921	-0.172000	0.13284	GGT		0.512	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		18	24	0	0	0	0.608945	0	18	24				
SLC35D3	340146	broad.mit.edu	37	6	137245387	137245387	+	Silent	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387G>T	ENST00000331858.4	+	2	969	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	268					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGG	0.592																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(802-804)acG>acT		solute carrier family 35, member D3							75.0	64.0	68.0					6																	137245387		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245387G>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.804G>T	6.37:g.137245387G>T							p.T268T	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	969	+	Colorectal(23;0.24)		268					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.804G>T	CCDS34544.1																																																																																				0.592	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		21	3	1	0	1.01871e-10	0.575678	1.1048e-10	21	3				
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	ENST00000332517.3	+	6	1542	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	468	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1402-1404)Gtc>Atc		tripartite motif family-like 1							38.0	40.0	39.0					4																	189068521		2199	4297	6496	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068521G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1402G>A	4.37:g.189068521G>A	ENSP00000327738:p.Val468Ile					TRIML1_ENST00000507581.1_3'UTR	p.V468I	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1542	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	468			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1402G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.751945	0.31046	.	.	ENSG00000184108	ENST00000332517	T	0.61158	0.13	4.79	0.492	0.16872	B30.2/SPRY domain (1);	1.487680	0.04495	N	0.380167	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.15150	-1.0447	10	0.13108	T	0.6	-2.5793	2.7703	0.05332	0.4061:0.0:0.3903:0.2036	.	468	Q8N9V2	TRIML_HUMAN	I	468	ENSP00000327738:V468I	ENSP00000327738:V468I	V	+	1	0	TRIML1	189305515	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.020000	0.13466	0.267000	0.21916	-0.142000	0.14014	GTC		0.542	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		21	29	0	0	0	0.740014	0	21	29				
GRXCR2	643226	broad.mit.edu	37	5	145252495	145252495	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	ENST00000377976.1	-	1	36	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	13						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(37-39)Gat>Aat		glutaredoxin, cysteine rich 2							104.0	103.0	103.0					5																	145252495		2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252495C>T		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.37G>A	5.37:g.145252495C>T	ENSP00000367214:p.Asp13Asn						p.D13N	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			1	36	-			13						Missense_Mutation	SNP	ENST00000377976.1	37	c.37G>A	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874700	0.51695	.	.	ENSG00000204928	ENST00000377976	T	0.58060	0.36	5.73	5.73	0.89815	.	0.097453	0.64402	D	0.000001	T	0.58337	0.2115	L	0.47716	1.5	0.47407	D	0.999416	P	0.49559	0.925	P	0.49752	0.621	T	0.55698	-0.8100	10	0.45353	T	0.12	-20.3046	19.0403	0.92995	0.0:1.0:0.0:0.0	.	13	A6NFK2	GRCR2_HUMAN	N	13	ENSP00000367214:D13N	ENSP00000367214:D13N	D	-	1	0	GRXCR2	145232688	0.993000	0.37304	0.960000	0.40013	0.084000	0.17831	3.037000	0.49775	2.854000	0.98071	0.655000	0.94253	GAT		0.507	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			46	74	0	0	0	0.870114	0	46	74				
LINGO4	339398	broad.mit.edu	37	1	151774674	151774674	+	Silent	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:151774674T>C	ENST00000368820.3	-	2	1444	c.507A>G	c.(505-507)gtA>gtG	p.V169V		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	169						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCACAAATACCAGGTGGT	0.607																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(505-507)gtA>gtG		leucine rich repeat and Ig domain containing 4							45.0	52.0	50.0					1																	151774674		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774674T>C		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.507A>G	1.37:g.151774674T>C							p.V169V	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1444	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		169						Silent	SNP	ENST00000368820.3	37	c.507A>G	CCDS30855.1																																																																																				0.607	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		3	70	0	0	0	0.115264	0	3	70				
AACSP1	729522	broad.mit.edu	37	5	178194152	178194152	+	RNA	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:178194152G>A	ENST00000503486.2	-	0	1485					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		GGACTCCTGCGCCAGGCCATT	0.597																																						ENST00000503486.2																			0																																																			0							g.chr5:178194152G>A			5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178194152G>A								NR_024035.1						0	1485	-									RNA	SNP	ENST00000503486.2	37																																																																																						0.597	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2	NR_024035		4	3	0	0	0	0.150653	0	4	3				
SPPL2C	162540	broad.mit.edu	37	17	43922344	43922344	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:43922344C>T	ENST00000329196.5	+	1	89	c.72C>T	c.(70-72)taC>taT	p.Y24Y	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	24						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.Y24Y(1)									GGGGAAAGTACGGCGTGGCCC	0.622																																						ENST00000329196.5																			1	Substitution - coding silent(1)	p.Y24Y(1)	large_intestine(1)								c.(70-72)taC>taT		signal peptide peptidase like 2C							96.0	80.0	86.0					17																	43922344		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922344C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.72C>T	17.37:g.43922344C>T						MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.Y24Y	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	89	+			24					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.72C>T	CCDS32673.1																																																																																				0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		20	23	0	0	0	0.575678	0	20	23				
ASB1	51665	broad.mit.edu	37	2	239344637	239344637	+	Silent	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:239344637C>A	ENST00000264607.4	+	3	724	c.477C>A	c.(475-477)atC>atA	p.I159I	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	159					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGGCAGACATCCTGAAGGCCC	0.567																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(475-477)atC>atA		ankyrin repeat and SOCS box containing 1							19.0	20.0	20.0					2																	239344637		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344637C>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.477C>A	2.37:g.239344637C>A						ASB1_ENST00000409297.1_Intron	p.I159I	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	724	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	159					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.477C>A	CCDS33416.1																																																																																				0.567	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	8	1	0	0.0293803	0.248553	0.0301638	6	8				
SGCD	6444	broad.mit.edu	37	5	155771587	155771587	+	Missense_Mutation	SNP	G	G	A	rs200476861		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	ENST00000435422.3	+	2	576	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	30					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(88-90)cGg>cAg		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3930		0,0,1965	109.0	118.0	115.0		92,89,92	4.7	1.0	5		115	2,8284		0,2,4141	yes	missense,missense,missense	SGCD	NM_000337.5,NM_001128209.1,NM_172244.2	43,43,43	0,2,6106	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging	31/291,30/290,31/257	155771587	2,12214	1965	4143	6108	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771587G>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.89G>A	5.37:g.155771587G>A	ENSP00000403003:p.Arg30Gln					SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q	p.R30Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	576	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	30					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.89G>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241411	0.95272	0.0	2.41E-4	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.59	4.7	0.59300	.	0.112392	0.56097	D	0.000027	D	0.97167	0.9074	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	P;P;D	0.65323	0.834;0.744;0.934	D	0.97535	1.0082	10	0.72032	D	0.01	-21.9678	15.6177	0.76780	0.0:0.0:0.8614:0.1386	.	30;31;31	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	31;30;31;31	ENSP00000429378:R31Q;ENSP00000403003:R30Q;ENSP00000338343:R31Q;ENSP00000408324:R31Q	ENSP00000338343:R31Q	R	+	2	0	SGCD	155704165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	1.314000	0.45095	0.655000	0.94253	CGG		0.483	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			37	39	0	0	0	0.796494	0	37	39				
AHNAK2	113146	broad.mit.edu	37	14	105420969	105420969	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	ENST00000333244.5	-	7	938	c.819G>A	c.(817-819)ccG>ccA	p.P273P	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	273						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(817-819)ccG>ccA		AHNAK nucleoprotein 2							31.0	33.0	32.0					14																	105420969		1994	4141	6135	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420969C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.819G>A	14.37:g.105420969C>T							p.P273P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	938	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	273					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.819G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	9	0	0	0	0.307466	0	9	9				
RNF150	57484	broad.mit.edu	37	4	141888953	141888953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	ENST00000515673.2	-	2	592	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000420921.2_Missense_Mutation_p.I46V|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000306799.3_Missense_Mutation_p.I187V			Q9ULK6	RN150_HUMAN	ring finger protein 150	187						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(559-561)Atc>Gtc		ring finger protein 150							295.0	253.0	267.0					4																	141888953		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888953T>C	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.559A>G	4.37:g.141888953T>C	ENSP00000425840:p.Ile187Val					RNF150_ENST00000420921.2_Missense_Mutation_p.I46V|RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000515673.1_Missense_Mutation_p.I187V	p.I187V	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			2	1212	-	all_hematologic(180;0.162)		187					Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.559A>G	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098797	0.37048	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.16073	2.53;2.53;2.37;3.43;3.23;2.58	5.88	-2.57	0.06248	.	0.442745	0.25961	N	0.027198	T	0.09774	0.0240	L	0.28556	0.865	0.41061	D	0.985375	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.17979	0.008;0.02;0.009	T	0.14172	-1.0482	10	0.34782	T	0.22	.	7.2156	0.25957	0.0:0.2745:0.1095:0.6159	.	187;187;187	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	V	46;46;187;187;187;18	ENSP00000368827:I46V;ENSP00000394581:I46V;ENSP00000304321:I187V;ENSP00000425840:I187V;ENSP00000425568:I187V;ENSP00000425947:I18V	ENSP00000304321:I187V	I	-	1	0	RNF150	142108403	0.995000	0.38212	0.970000	0.41538	0.959000	0.62525	0.242000	0.18087	-0.658000	0.05366	-0.297000	0.09499	ATC		0.488	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		27	126	0	0	0	0.717897	0	27	126				
HCN1	348980	broad.mit.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1678-1680)cGt>cAt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							162.0	146.0	152.0					5																	45267295		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267295C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1679G>A	5.37:g.45267295C>T	ENSP00000307342:p.Arg560His						p.R560H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1736	-			560						Missense_Mutation	SNP	ENST00000303230.4	37	c.1679G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434438	0.83776	.	.	ENSG00000164588	ENST00000303230	D	0.92911	-3.13	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.87585	0.6214	L	0.40543	1.245	0.80722	D	1	P	0.44816	0.844	B	0.29942	0.109	D	0.88567	0.3127	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	560	O60741	HCN1_HUMAN	H	560	ENSP00000307342:R560H	ENSP00000307342:R560H	R	-	2	0	HCN1	45303052	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	CGT		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		43	76	0	0	0	0.859065	0	43	76				
OPN5	221391	broad.mit.edu	37	6	47754301	47754301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	ENST00000371211.2	+	2	209	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000489301.2_Nonsense_Mutation_p.R61*	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(181-183)Cga>Tga		opsin 5							128.0	120.0	123.0					6																	47754301		2203	4300	6503	SO:0001587	stop_gained	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47754301C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.181C>T	6.37:g.47754301C>T	ENSP00000360255:p.Arg61*					OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000371211.2_Nonsense_Mutation_p.R61*	p.R61*			Q6U736	OPN5_HUMAN			2	266	+			61					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Nonsense_Mutation	SNP	ENST00000371211.2	37	c.181C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062174	0.97246	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.0986	0.65039	0.3926:0.6074:0.0:0.0	.	.	.	.	X	61	.	ENSP00000360255:R61X	R	+	1	2	OPN5	47862260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.131000	0.31406	1.493000	0.48517	0.655000	0.94253	CGA		0.378	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		39	32	0	0	0	0.834066	0	39	32				
TPO	7173	broad.mit.edu	37	2	1459909	1459909	+	Missense_Mutation	SNP	G	G	A	rs192442410	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	ENST00000345913.4	+	7	765	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_ENST00000382201.3_Missense_Mutation_p.R225H|TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000337415.3_Missense_Mutation_p.R225H|TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000382198.1_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	225					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		20557	0.0		0.002	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(673-675)cGc>cAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	125.0	89.0	101.0		674,674,674,674,674,674	-4.6	0.5	2		101	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign	225/934,225/934,225/877,225/877,225/890,225/761	1459909	2,13004	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459909G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.674G>A	2.37:g.1459909G>A	ENSP00000318820:p.Arg225His					TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000337415.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000382198.1_Missense_Mutation_p.R225H|TPO_ENST00000382201.3_Missense_Mutation_p.R225H	p.R225H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	765	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	225					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.674G>A	CCDS1643.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	5.149	0.213152	0.09757	0.0	2.33E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.04	-4.55	0.03441	.	0.696260	0.13724	N	0.367174	T	0.46737	0.1408	N	0.20685	0.6	0.39487	D	0.967984	B;B;B;B	0.11235	0.003;0.002;0.001;0.004	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.03829	-1.1000	10	0.40728	T	0.16	-15.6299	6.2889	0.21049	0.5527:0.0:0.2876:0.1597	.	225;225;225;225	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	H	225;225;225;225;225;225;225;154	ENSP00000337263:R225H;ENSP00000318820:R225H;ENSP00000263886:R225H;ENSP00000332044:R225H;ENSP00000329869:R225H;ENSP00000371636:R225H;ENSP00000371633:R225H;ENSP00000405788:R154H	ENSP00000329869:R225H	R	+	2	0	TPO	1438916	0.000000	0.05858	0.476000	0.27291	0.008000	0.06430	0.026000	0.13599	-0.520000	0.06435	-1.987000	0.00451	CGC		0.537	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		22	22	0	0	0	0.654019	0	22	22				
TYRP1	7306	broad.mit.edu	37	9	12708029	12708029	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	ENST00000388918.5	+	7	1423	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V	TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	432					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1294-1296)Att>Gtt		tyrosinase-related protein 1							55.0	54.0	54.0					9																	12708029		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12708029A>G	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1294A>G	9.37:g.12708029A>G	ENSP00000373570:p.Ile432Val					TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V	p.I432V	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	7	1423	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	432					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1294A>G	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771758	0.90108	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98762	-5.12;-5.12;-5.12	5.68	5.68	0.88126	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.83223	2.63	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.99683	1.0999	10	0.66056	D	0.02	-20.8966	15.9279	0.79635	1.0:0.0:0.0:0.0	.	432	P17643	TYRP1_HUMAN	V	141;432;142	ENSP00000370529:I141V;ENSP00000373570:I432V;ENSP00000370528:I142V	ENSP00000370528:I142V	I	+	1	0	TYRP1	12698029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.165000	0.68154	0.482000	0.46254	ATT		0.348	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		13	1	0	0	0	0.500413	0	13	1				
HBE1	3046	broad.mit.edu	37	11	5291062	5291062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	ENST00000380237.1	-	3	403	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBE1_ENST00000292896.2_Missense_Mutation_p.N20S|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	20					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(58-60)aAt>aGt		hemoglobin, epsilon 1							112.0	100.0	104.0					11																	5291062		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5291062T>C	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.59A>G	11.37:g.5291062T>C	ENSP00000369586:p.Asn20Ser					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.N20S|HBG2_ENST00000380259.2_Intron	p.N20S			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	403	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	20					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.59A>G	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116882	0.37339	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.86432	-2.12;-2.12;-2.12	5.81	5.81	0.92471	Globin-like (1);Globin, structural domain (1);	0.386853	0.24846	U	0.035121	D	0.87047	0.6080	M	0.75150	2.29	0.37410	D	0.913215	B	0.34226	0.443	B	0.32533	0.147	D	0.89344	0.3656	10	0.72032	D	0.01	-28.8681	14.988	0.71362	0.0:0.0:0.0:1.0	.	20	P02100	HBE_HUMAN	S	20	ENSP00000369586:N20S;ENSP00000292896:N20S;ENSP00000380104:N20S	ENSP00000292896:N20S	N	-	2	0	HBE1	5247638	0.093000	0.21703	1.000000	0.80357	0.322000	0.28314	2.178000	0.42519	2.224000	0.72417	0.477000	0.44152	AAT		0.507	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		16	21	0	0	0	0.557998	0	16	21				
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					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)				TCCTGCTGGACGTGGTCCAGT	0.547																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(226-228)gaC>gaT		heat shock 27kDa protein 3							95.0	87.0	89.0					5																	53751847		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751847C>T	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.228C>T	5.37:g.53751847C>T							p.D76D	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	403	+		Lung NSC(810;0.00104)	76						Silent	SNP	ENST00000302005.1	37	c.228C>T	CCDS3961.1																																																																																				0.547	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			22	40	0	0	0	0.624587	0	22	40				
ITGA4	3676	broad.mit.edu	37	2	182396426	182396426	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	ENST00000397033.2	+	25	3137	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	903					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTTCTTGTGTAATTTTGGGAA	0.323																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2707-2709)Aat>Gat		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						74.0	74.0	74.0					2																	182396426		1809	4070	5879	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182396426A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2707A>G	2.37:g.182396426A>G	ENSP00000380227:p.Asn903Asp						p.N903D	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		25	3137	+			903					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2707A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704593	0.30232	.	.	ENSG00000115232	ENST00000397033	T	0.47528	0.84	5.49	-0.0443	0.13855	.	0.511841	0.25225	N	0.032214	T	0.41949	0.1181	M	0.63843	1.955	0.26469	N	0.975316	B	0.32010	0.351	B	0.30943	0.122	T	0.29941	-0.9995	10	0.30854	T	0.27	.	13.5616	0.61793	0.4644:0.5356:0.0:0.0	.	903	P13612	ITA4_HUMAN	D	903	ENSP00000380227:N903D	ENSP00000380227:N903D	N	+	1	0	ITGA4	182104671	0.997000	0.39634	0.694000	0.30210	0.523000	0.34469	0.790000	0.26900	-0.227000	0.09884	0.455000	0.32223	AAT		0.323	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			32	48	0	0	0	0.769981	0	32	48				
SLC17A9	63910	broad.mit.edu	37	20	61594706	61594706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr20:61594706G>A	ENST00000370351.4	+	6	841	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R231Q	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	237					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCTCTTCCGGAAGCCTGCT	0.657																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(691-693)cGg>cAg		solute carrier family 17 (vesicular nucleotide transporter), member 9							37.0	42.0	40.0					20																	61594706		1977	4144	6121	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594706G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.710G>A	20.37:g.61594706G>A	ENSP00000359376:p.Arg237Gln					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R237Q	p.R231Q			Q9BYT1	S17A9_HUMAN			7	896	+			237					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.692G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024867	0.35701	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62498	0.02;0.02	4.86	1.84	0.25277	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.217386	0.44902	D	0.000406	T	0.56247	0.1972	M	0.62088	1.915	0.45097	D	0.998111	B;B;B	0.18741	0.017;0.01;0.03	B;B;B	0.28232	0.087;0.032;0.052	T	0.48502	-0.9030	10	0.27082	T	0.32	.	9.366	0.38226	0.3097:0.0:0.6903:0.0	.	257;237;231	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	Q	237;231	ENSP00000359376:R237Q;ENSP00000359374:R231Q	ENSP00000359374:R231Q	R	+	2	0	SLC17A9	61065151	0.045000	0.20229	0.996000	0.52242	0.632000	0.37999	0.285000	0.18883	0.466000	0.27193	-0.657000	0.03884	CGG		0.657	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		6	11	0	0	0	0.217242	0	6	11				
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	23	61	0	0	0	0.624587	0	23	61				
ALPPL2	251	broad.mit.edu	37	2	233273520	233273520	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233273520C>A	ENST00000295453.3	+	8	1015	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	321					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGAGCAGGAACCCCCGCGGCT	0.642																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(961-963)aaC>aaA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						12.0	10.0	10.0					2																	233273520		1370	2554	3924	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273520C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.963C>A	2.37:g.233273520C>A	ENSP00000295453:p.Asn321Lys						p.N321K	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	1015	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	321					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.963C>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.608570	0.28623	.	.	ENSG00000163286	ENST00000295453	D	0.96554	-4.05	2.68	0.778	0.18543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.044673	0.85682	D	0.000000	D	0.97561	0.9201	M	0.87269	2.87	0.43372	D	0.995468	D	0.67145	0.996	D	0.72625	0.978	D	0.96462	0.9342	10	0.72032	D	0.01	.	8.4804	0.33038	0.0:0.7817:0.0:0.2183	.	321	P10696	PPBN_HUMAN	K	321	ENSP00000295453:N321K	ENSP00000295453:N321K	N	+	3	2	ALPPL2	232981764	0.728000	0.28080	0.802000	0.32245	0.105000	0.19272	-0.103000	0.10940	0.441000	0.26529	0.411000	0.27672	AAC		0.642	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		6	1	1	0	0.0381472	0.278610	0.0386492	6	1				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	88	0	0	0	0.115264	0	3	88				
ZNF484	83744	broad.mit.edu	37	9	95610417	95610417	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	ENST00000375495.3	-	5	800	c.652A>G	c.(652-654)Aca>Gca	p.T218A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395505.2_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(544-546)Aca>Gca		zinc finger protein 484							103.0	104.0	104.0					9																	95610417		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610417T>C	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.652A>G	9.37:g.95610417T>C	ENSP00000364645:p.Thr218Ala					ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.T218A	p.T182A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	636	-			218					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.544A>G	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	5.816	0.334838	0.11013	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	2.94	0.566	0.17317	.	.	.	.	.	T	0.22820	0.0551	M	0.76170	2.325	0.20638	N	0.999877	B;B	0.23377	0.084;0.084	B;B	0.21708	0.036;0.022	T	0.26292	-1.0107	9	0.54805	T	0.06	.	6.1104	0.20097	0.0:0.2418:0.0:0.7582	.	220;218	B4DRI2;Q5JVG2	.;ZN484_HUMAN	A	182;220;218;182	ENSP00000378881:T182A;ENSP00000378882:T220A;ENSP00000364645:T218A;ENSP00000364646:T182A	ENSP00000364646:T182A	T	-	1	0	ZNF484	94650238	0.997000	0.39634	0.201000	0.23476	0.056000	0.15407	1.049000	0.30392	0.105000	0.17753	0.523000	0.50628	ACA		0.353	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		28	84	0	0	0	0.706142	0	28	84				
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A	rs201965283		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1756-1758)tcG>tcA		FYVE, RhoGEF and PH domain containing 5							47.0	49.0	48.0					3																	14862336		1976	4155	6131	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862336G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1758G>A	3.37:g.14862336G>A						FGD5_ENST00000543601.1_Silent_p.S345S	p.S586S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1868	+			586					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1758G>A	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		17	24	0	0	0	0.539581	0	17	24				
OLFML2B	25903	broad.mit.edu	37	1	161967984	161967984	+	Missense_Mutation	SNP	C	C	T	rs202036346		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	ENST00000294794.3	-	6	1528	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	369					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.A369T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627																																						ENST00000294794.3																			1	Substitution - Missense(1)	p.A369T(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1105-1107)Gca>Aca		olfactomedin-like 2B							148.0	153.0	151.0					1																	161967984		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967984C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1105G>A	1.37:g.161967984C>T	ENSP00000294794:p.Ala369Thr					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T	p.A369T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1528	-	all_hematologic(112;0.156)		369					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1105G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232336	0.09969	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86432	-2.12;-2.12	4.62	-4.27	0.03744	.	.	.	.	.	T	0.39835	0.1093	N	0.02539	-0.55	0.22468	N	0.999077	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11421	-1.0588	8	0.12430	T	0.62	.	6.6087	0.22739	0.1194:0.2596:0.0:0.621	.	370;369	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	369;370	ENSP00000294794:A369T;ENSP00000356917:A370T	ENSP00000294794:A369T	A	-	1	0	OLFML2B	160234608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.486000	0.00455	-0.747000	0.04759	-0.448000	0.05591	GCA		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		66	98	0	0	0	0.870114	0	66	98				
SP7	121340	broad.mit.edu	37	12	53722415	53722415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	ENST00000536324.2	-	3	1094	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_ENST00000303846.3_Missense_Mutation_p.D271N|SP7_ENST00000537210.2_Missense_Mutation_p.D253N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	271					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(811-813)Gac>Aac		Sp7 transcription factor							24.0	29.0	27.0					12																	53722415		2084	4217	6301	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722415C>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.811G>A	12.37:g.53722415C>T	ENSP00000443827:p.Asp271Asn					SP7_ENST00000303846.3_Missense_Mutation_p.D271N|SP7_ENST00000537210.2_Missense_Mutation_p.D253N	p.D271N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	1094	-			271					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.811G>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245505	0.59103	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.60299	3.03;3.03;3.06;0.2	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.35249	1.045	0.58432	D	0.999996	P	0.38335	0.627	B	0.38106	0.265	T	0.58707	-0.7589	10	0.72032	D	0.01	.	15.0576	0.71927	0.0:1.0:0.0:0.0	.	271	Q8TDD2	SP7_HUMAN	N	271;271;253;253	ENSP00000443827:D271N;ENSP00000302812:D271N;ENSP00000441367:D253N;ENSP00000449355:D253N	ENSP00000302812:D271N	D	-	1	0	SP7	52008682	0.982000	0.34865	0.991000	0.47740	0.229000	0.25112	2.585000	0.46111	2.010000	0.58986	0.313000	0.20887	GAC		0.662	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			13	13	0	0	0	0.435327	0	13	13				
PLPPR1	54886	broad.mit.edu	37	9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	ENST00000374874.3	+	8	1406	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		323					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GTCCATGACCGAAGTTACCTG	0.418																																						ENST00000374874.3																			0											c.(967-969)Gaa>Aaa									155.0	121.0	132.0					9																	104086328		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104086328G>A																												ENST00000374874.3:c.967G>A	9.37:g.104086328G>A	ENSP00000364008:p.Glu323Lys					LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K	p.E323K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			8	1406	+			323					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.967G>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518161	0.64634	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.32023	1.47;1.47	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.43152	1.355	0.54753	D	0.999987	P;P	0.50617	0.937;0.892	B;B	0.35813	0.211;0.073	T	0.06972	-1.0797	10	0.16896	T	0.51	-31.1507	17.8069	0.88604	0.0:0.0:1.0:0.0	.	307;323	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	K	323	ENSP00000364008:E323K;ENSP00000378496:E323K	ENSP00000364005:E323K	E	+	1	0	RP11-35N6.1	103126149	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.562000	0.82300	2.449000	0.82847	0.650000	0.86243	GAA		0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			15	24	0	0	0	0.500413	0	15	24				
FAM153B	202134	broad.mit.edu	37	5	175526032	175526032	+	Silent	SNP	A	A	G	rs200107104		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:175526032A>G	ENST00000253490.4	+	10	603	c.546A>G	c.(544-546)acA>acG	p.T182T	FAM153B_ENST00000510151.1_Silent_p.T105T|FAM153B_ENST00000515817.1_Silent_p.T105T|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	182										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGGCAGACACAGGCATCCAAA	0.438													a|||	1	0.000199681	0.0	0.0	5008	,	,		21639	0.0		0.001	False		,,,				2504	0.0					ENST00000253490.4																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(544-546)acA>acG		family with sequence similarity 153, member B		A		5,4401	9.9+/-24.2	0,5,2198	179.0	163.0	169.0		546	-1.3	0.0	5		169	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous	FAM153B	NM_001079529.2		0,29,6474	GG,GA,AA		0.2791,0.1135,0.223		182/388	175526032	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	202134							g.chr5:175526032A>G	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.546A>G	5.37:g.175526032A>G						FAM153B_ENST00000510151.1_Silent_p.T105T|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Silent_p.T105T	p.T182T			P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	10	603	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	182					A8MTI1	Silent	SNP	ENST00000253490.4	37	c.546A>G																																																																																					0.438	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		3	117	0	0	0	0.150653	0	3	117				
MAGEA6	4105	broad.mit.edu	37	X	151870194	151870194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	ENST00000329342.5	+	3	1109	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	295	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATCAGTGGAGGACCTCGC	0.567																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(883-885)gGa>gAa		melanoma antigen family A, 6							146.0	139.0	142.0					X																	151870194		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151870194G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.884G>A	X.37:g.151870194G>A	ENSP00000329199:p.Gly295Glu						p.G295E	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1109	+	Acute lymphoblastic leukemia(192;6.56e-05)		295			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.884G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	1.500	-0.552200	0.03996	.	.	ENSG00000197172	ENST00000329342	T	0.01745	4.66	0.879	-1.76	0.08006	.	.	.	.	.	T	0.01976	0.0062	L	0.55834	1.745	0.09310	N	1	B	0.29508	0.246	B	0.28784	0.094	T	0.38156	-0.9674	9	0.54805	T	0.06	.	2.8302	0.05497	0.4453:0.2487:0.306:0.0	.	295	P43360	MAGA6_HUMAN	E	295	ENSP00000329199:G295E	ENSP00000329199:G295E	G	+	2	0	MAGEA6	151620850	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.538000	0.06120	-1.946000	0.01035	-1.097000	0.02148	GGA		0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		72	99	0	0	0	0.870114	0	72	99				
PDZD3	79849	broad.mit.edu	37	11	119059739	119059739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	ENST00000531114.1	+	8	2060	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q|PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	504	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607																																						ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(1510-1512)cGg>cAg		PDZ domain containing 3							61.0	65.0	63.0					11																	119059739		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059739G>A	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1511G>A	11.37:g.119059739G>A	ENSP00000431164:p.Arg504Gln					PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q|PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q	p.R504Q			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	8	2060	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	504			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	G	13.39	2.222383	0.39300	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.96	-0.47	0.12131	PDZ/DHR/GLGF (4);	0.169164	0.39544	N	0.001323	T	0.11750	0.0286	N	0.25485	0.75	0.26184	N	0.979683	P;B;B;P	0.43169	0.8;0.393;0.451;0.507	B;B;B;B	0.33295	0.161;0.071;0.04;0.062	T	0.19582	-1.0301	10	0.23891	T	0.37	-6.4321	1.5722	0.02617	0.3301:0.1399:0.4021:0.1279	.	425;504;438;424	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	Q	425;504;438;424;438;504	ENSP00000434559:R425Q;ENSP00000431164:R504Q;ENSP00000347742:R438Q;ENSP00000327107:R424Q;ENSP00000376564:R504Q	ENSP00000327107:R424Q	R	+	2	0	PDZD3	118564949	0.000000	0.05858	0.964000	0.40570	0.946000	0.59487	-1.232000	0.02936	-0.097000	0.12307	0.561000	0.74099	CGG		0.607	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		43	57	0	0	0	0.870114	0	43	57				
MND1	84057	broad.mit.edu	37	4	154335914	154335914	+	Missense_Mutation	SNP	G	G	A	rs558905999		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:154335914G>A	ENST00000240488.3	+	8	612	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249													G|||	1	0.000199681	0.0	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.001					ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(523-525)Gca>Aca		meiotic nuclear divisions 1 homolog (S. cerevisiae)							26.0	28.0	28.0					4																	154335914		2162	4273	6435	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154335914G>A	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.523G>A	4.37:g.154335914G>A	ENSP00000240488:p.Ala175Thr						p.A175T	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			8	612	+	all_hematologic(180;0.093)		175						Missense_Mutation	SNP	ENST00000240488.3	37	c.523G>A	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993820	0.35131	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.33	3.55	0.40652	.	0.205870	0.49916	D	0.000136	T	0.44350	0.1289	L	0.46614	1.455	0.80722	D	1	P	0.34724	0.465	B	0.29785	0.107	T	0.30736	-0.9968	9	0.07482	T	0.82	-10.2572	13.666	0.62396	0.0:0.0:0.7183:0.2817	.	175	Q9BWT6	MND1_HUMAN	T	175	.	ENSP00000240488:A175T	A	+	1	0	MND1	154555364	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.329000	0.33770	0.700000	0.31782	0.455000	0.32223	GCA		0.249	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117		14	24	0	0	0	0.457914	0	14	24				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q88Q(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(262-264)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871088G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.264G>A	6.37:g.170871088G>A						TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q	p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	543	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	88			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.264G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	7	0	0	0	0.150653	0	3	7				
HEG1	57493	broad.mit.edu	37	3	124692589	124692589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	ENST00000311127.4	-	16	4049	c.3982G>T	c.(3982-3984)Gat>Tat	p.D1328Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1328					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3982-3984)Gat>Tat		heart development protein with EGF-like domains 1							98.0	97.0	97.0					3																	124692589		1879	4110	5989	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124692589C>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3982G>T	3.37:g.124692589C>A	ENSP00000311502:p.Asp1328Tyr						p.D1328Y	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			16	4049	-			1328					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3982G>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490994	0.84962	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.94184	-3.37;-0.03	4.97	4.97	0.65823	.	0.000000	0.39834	U	0.001258	D	0.94172	0.8130	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95291	0.8395	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1328	Q9ULI3	HEG1_HUMAN	Y	1328;212	ENSP00000311502:D1328Y;ENSP00000417648:D212Y	ENSP00000311502:D1328Y	D	-	1	0	HEG1	126175279	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	GAT		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		14	26	1	0	0.00316338	0.479597	0.00329162	14	26				
KRT39	390792	broad.mit.edu	37	17	39122910	39122910	+	Missense_Mutation	SNP	G	G	A	rs376519481		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	ENST00000355612.2	-	1	234	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	67	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(199-201)Cgc>Tgc		keratin 39		G	CYS/ARG	0,4406		0,0,2203	192.0	194.0	193.0		199	-3.8	0.0	17		193	2,8590	2.2+/-6.3	0,2,4294	no	missense	KRT39	NM_213656.3	180	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign	67/492	39122910	2,12996	2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122910G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.199C>T	17.37:g.39122910G>A	ENSP00000347823:p.Arg67Cys					AC004231.2_ENST00000418393.1_RNA	p.R67C	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	234	-		Breast(137;0.00043)|Ovarian(249;0.15)	67			Head.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.199C>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256591	0.22965	0.0	2.33E-4	ENSG00000196859	ENST00000355612	D	0.82984	-1.67	5.75	-3.8	0.04307	.	0.899723	0.09315	N	0.819084	T	0.59649	0.2209	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45145	-0.9281	10	0.38643	T	0.18	.	7.766	0.28980	0.5871:0.1257:0.2872:0.0	.	67	Q6A163	K1C39_HUMAN	C	67	ENSP00000347823:R67C	ENSP00000347823:R67C	R	-	1	0	KRT39	36376436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.808000	0.04515	-0.691000	0.05135	-0.143000	0.13931	CGC		0.517	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		81	111	0	0	0	0.870114	0	81	111				
KLK6	5653	broad.mit.edu	37	19	51466622	51466622	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	ENST00000376851.3	-	4	820	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLK6_ENST00000594641.1_Silent_p.L127L|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Silent_p.L20L|KLK6_ENST00000456750.2_Silent_p.L20L|KLK6_ENST00000310157.2_Silent_p.L127L|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(379-381)ctG>ctA		kallikrein-related peptidase 6							82.0	53.0	63.0					19																	51466622		2203	4300	6503	SO:0001819	synonymous_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466622C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.381G>A	19.37:g.51466622C>T						KLK6_ENST00000594641.1_Silent_p.L127L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Silent_p.L127L|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Silent_p.L20L|KLK6_ENST00000391808.1_Silent_p.L20L	p.L127L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	820	-		all_neural(266;0.026)	127			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	c.381G>A	CCDS12811.1																																																																																				0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		10	19	0	0	0	0.361761	0	10	19				
DOCK5	80005	broad.mit.edu	37	8	25216578	25216578	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e28+1		dedicator of cytokinesis 5							238.0	209.0	219.0					8																	25216578		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25216578G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2949+1G>A	8.37:g.25216578G>A								NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	28	2993	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)						B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37		CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643231	0.87859	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25272495	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	9.845000	0.99498	2.826000	0.97356	0.655000	0.94253	.		0.458	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Intron	56	68	0	0	0	0.870114	0	56	68				
MROH1	727957	broad.mit.edu	37	8	145267957	145267957	+	Intron	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:145267957A>G	ENST00000528919.1	+	12	1262				MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000423230.2_Missense_Mutation_p.E401G|MROH1_ENST00000326134.5_Intron|MROH1_ENST00000534366.1_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		CTGAAACATGAGGACTGCCCT	0.532																																						ENST00000423230.2																			0											c.(1201-1203)gAg>gGg		maestro heat-like repeat family member 1							97.0	106.0	103.0					8																	145267957		2141	4248	6389	SO:0001627	intron_variant	727957							g.chr8:145267957A>G		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7546A>G	8.37:g.145267957A>G						MROH1_ENST00000527071.1_Intron|MROH1_ENST00000326134.5_Intron|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000528919.1_Intron	p.E401G	NM_001099280.1|NM_001099281.1	NP_001092750.1|NP_001092751.1					12	1299	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.1202A>G	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	A	2.370	-0.344655	0.05208	.	.	ENSG00000179832	ENST00000423230	T	0.07908	3.15	0.752	0.752	0.18398	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.09310	N	1	D	0.54772	0.968	P	0.59546	0.859	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	401	Q8NDA8-4	.	G	401	ENSP00000388174:E401G	ENSP00000388174:E401G	E	+	2	0	HEATR7A	145339945	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.629000	0.24538	0.562000	0.29204	0.332000	0.21555	GAG		0.532	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		3	87	0	0	0	0.115264	0	3	87				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	6	0	0	0	0.150653	0	3	6				
TSPAN18	90139	broad.mit.edu	37	11	44948236	44948236	+	Silent	SNP	G	G	C	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	ENST00000520358.2	+	9	1042	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_ENST00000340160.3_Silent_p.T209T			Q96SJ8	TSN18_HUMAN	tetraspanin 18	209						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340160.3																			0				endometrium(1)|large_intestine(6)|lung(3)	10						c.(625-627)acG>acC		tetraspanin 18							238.0	200.0	213.0					11																	44948236		2203	4299	6502	SO:0001819	synonymous_variant	90139					integral to membrane		g.chr11:44948236G>C	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.627G>C	11.37:g.44948236G>C			OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	927	TSPAN18_ENST00000520358.2_Silent_p.T209T	p.T209T	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN			8	866	+			209					Q6UY44|Q8NBI9	Silent	SNP	ENST00000520358.2	37	c.627G>C	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371943	0.01214	.	.	ENSG00000157570	ENST00000518429	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50457	-0.8826	4	.	.	.	.	0.3248	0.00309	0.3227:0.2488:0.1603:0.2682	.	.	.	.	R	213	.	.	G	+	1	0	TSPAN18	44904812	0.000000	0.05858	0.049000	0.19019	0.145000	0.21501	-4.768000	0.00188	-4.166000	0.00068	-1.510000	0.00946	GGT		0.587	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		62	95	0	0	0	0.870114	0	62	95				
ADAMTS16	170690	broad.mit.edu	37	5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	rs371654781		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2125-2127)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 16		G	HIS/ARG	1,3801		0,1,1900	138.0	128.0	131.0		2126	5.7	1.0	5		131	0,8246		0,0,4123	no	missense	ADAMTS16	NM_139056.2	29	0,1,6023	AA,AG,GG		0.0,0.0263,0.0083	benign	709/1225	5237184	1,12047	1901	4123	6024	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237184G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2126G>A	5.37:g.5237184G>A	ENSP00000274181:p.Arg709His					ADAMTS16_ENST00000513709.1_Intron	p.R709H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			14	2264	+			709			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2126G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275132	0.23307	2.63E-4	0.0	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.59638	0.25	5.73	5.73	0.89815	.	0.373024	0.28712	N	0.014384	T	0.46444	0.1393	L	0.52364	1.645	0.30781	N	0.741972	B;B	0.21688	0.059;0.023	B;B	0.15484	0.006;0.013	T	0.42949	-0.9421	10	0.16420	T	0.52	.	8.3841	0.32491	0.0811:0.1572:0.7617:0.0	.	709;709	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	709	ENSP00000274181:R709H	ENSP00000274181:R709H	R	+	2	0	ADAMTS16	5290184	0.227000	0.23707	1.000000	0.80357	0.998000	0.95712	0.854000	0.27791	2.708000	0.92522	0.655000	0.94253	CGT		0.403	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		42	52	0	0	0	0.834066	0	42	52				
TPTE	7179	broad.mit.edu	37	21	10920147	10920147	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	ENST00000361285.4	-	19	1436	c.1107T>A	c.(1105-1107)ttT>ttA	p.F369L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F331L|TPTE_ENST00000298232.7_Missense_Mutation_p.F351L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	369	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTTTCTCCAAAATAATACA	0.383																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1051-1053)ttT>ttA		transmembrane phosphatase with tensin homology							97.0	91.0	93.0					21																	10920147		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920147A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1107T>A	21.37:g.10920147A>T	ENSP00000355208:p.Phe369Leu					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F331L|TPTE_ENST00000361285.4_Missense_Mutation_p.F369L	p.F351L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1420	-			369			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1053T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890057	0.33348	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.81996	-1.56;-1.56;-1.56	2.32	2.32	0.28847	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.85041	2.73	0.47094	D	0.999316	D;D;D	0.67145	0.992;0.996;0.985	D;D;D	0.70716	0.97;0.97;0.93	D	0.88158	0.2855	10	0.87932	D	0	-20.5483	6.522	0.22281	1.0:0.0:0.0:0.0	.	331;351;369	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	351;369;331	ENSP00000298232:F351L;ENSP00000355208:F369L;ENSP00000344441:F331L	ENSP00000298232:F351L	F	-	3	2	TPTE	9942018	1.000000	0.71417	0.722000	0.30670	0.185000	0.23345	3.556000	0.53734	1.080000	0.41073	0.155000	0.16302	TTT		0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			18	95	0	0	0	0.639603	0	18	95				
PLP1	5354	broad.mit.edu	37	X	103043374	103043374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	ENST00000303958.2	+	5	777	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PLP1_ENST00000361621.2_Missense_Mutation_p.P176S|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.P211S	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	211			P -> L (in HLD1). {ECO:0000269|PubMed:9008538, ECO:0000269|PubMed:9894878}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(631-633)Cca>Tca		proteolipid protein 1							281.0	246.0	258.0					X																	103043374		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103043374C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.631C>T	X.37:g.103043374C>T	ENSP00000305152:p.Pro211Ser					PLP1_ENST00000361621.2_Missense_Mutation_p.P176S|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.P211S	p.P211S	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			6	911	+			211		P -> L (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.631C>T	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400491	0.83120	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99677	-6.37;-6.37;-6.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	D	0.98503	1.0615	10	0.46703	T	0.11	-1.6543	15.4218	0.75018	0.0:1.0:0.0:0.0	.	156;211;211;176	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	S	211;211;176;189	ENSP00000405750:P211S;ENSP00000305152:P211S;ENSP00000354860:P176S	ENSP00000305152:P211S	P	+	1	0	PLP1	102930030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.233000	0.73108	0.594000	0.82650	CCA		0.478	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			134	186	0	0	0	0.870114	0	134	186				
MYOM3	127294	broad.mit.edu	37	1	24387556	24387556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	ENST00000374434.3	-	35	4150	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1333K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1330						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3997-3999)Gag>Aag		myomesin 3							74.0	73.0	74.0					1																	24387556		1913	4137	6050	SO:0001583	missense	127294							g.chr1:24387556C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3988G>A	1.37:g.24387556C>T	ENSP00000363557:p.Glu1330Lys					MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1330K|RP11-293P20.2_ENST00000439239.2_RNA	p.E1333K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	35	4159	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1330					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3997G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538252	0.85917	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966	T;T;T	0.61274	0.12;0.35;0.34	4.56	4.56	0.56223	.	0.191791	0.44097	D	0.000496	T	0.58366	0.2117	M	0.78456	2.415	0.80722	D	1	D;B	0.64830	0.994;0.024	B;B	0.43251	0.413;0.02	T	0.62282	-0.6887	10	0.30854	T	0.27	.	12.8419	0.57809	0.0:1.0:0.0:0.0	.	1330;223	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	223;1330;1333	ENSP00000342689:E223K;ENSP00000363557:E1330K;ENSP00000332670:E1333K	ENSP00000332670:E1333K	E	-	1	0	MYOM3	24260143	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	4.424000	0.59868	2.079000	0.62486	0.655000	0.94253	GAG		0.488	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		14	36	0	0	0	0.479597	0	14	36				
ABCB1	5243	broad.mit.edu	37	7	87178715	87178715	+	Silent	SNP	C	C	T	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	ENST00000265724.3	-	15	2091	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_ENST00000543898.1_Silent_p.T494T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	558	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCAAGGCTGACGTGGCCTCAT	0.537																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1672-1674)acG>acA		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C		1,4405	2.1+/-5.4	0,1,2202	114.0	93.0	100.0		1674	-11.6	0.2	7	dbSNP_129	100	0,8600		0,0,4300	no	coding-synonymous	ABCB1	NM_000927.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		558/1281	87178715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87178715C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1674G>A	7.37:g.87178715C>T						ABCB1_ENST00000543898.1_Silent_p.T494T	p.T558T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			15	2091	-	Esophageal squamous(14;0.00164)		558			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.1674G>A	CCDS5608.1																																																																																				0.537	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		27	50	0	0	0	0.706142	0	27	50				
RIMS2	9699	broad.mit.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	ENST00000436393.2	+	2	1107	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RIMS2_ENST00000507740.1_Missense_Mutation_p.S319L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Substitution - Missense(3)	p.S289L(1)|p.S547L(1)|p.S319L(1)	upper_aerodigestive_tract(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(955-957)tCg>tTg		regulating synaptic membrane exocytosis 2							64.0	60.0	61.0					8																	104898359		2001	4155	6156	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898359C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.866C>T	8.37:g.104898359C>T	ENSP00000390665:p.Ser289Leu	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L	p.S319L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1192	+			542					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.956C>T		.	.	.	.	.	.	.	.	.	.	C	28.3	4.908373	0.92107	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.25085	1.82;2.29;1.96;1.85;1.98;1.95;2.31	5.54	5.54	0.83059	.	.	.	.	.	T	0.51601	0.1684	M	0.62723	1.935	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.998;0.595;1.0;1.0	D;D;B;D;D	0.87578	0.998;0.992;0.335;0.996;0.998	T	0.51553	-0.8691	9	0.87932	D	0	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	542;289;319;319;511	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	511;542;511;542;319;319;319;319;289	ENSP00000427018:S511L;ENSP00000384892:S511L;ENSP00000425205:S319L;ENSP00000262231:S319L;ENSP00000423559:S319L;ENSP00000386228:S319L;ENSP00000390665:S289L	ENSP00000262231:S319L	S	+	2	0	RIMS2	104967535	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.780000	0.85658	2.597000	0.87782	0.563000	0.77884	TCG		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		25	35	0	0	0	0.667858	0	25	35				
RIBC2	26150	broad.mit.edu	37	22	45821982	45821982	+	Missense_Mutation	SNP	G	G	A	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	ENST00000342894.3	+	5	1025	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	204						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642													G|||	5	0.000998403	0.0	0.0014	5008	,	,		15564	0.0		0.004	False		,,,				2504	0.0					ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(610-612)cGc>cAc		RIB43A domain with coiled-coils 2		G	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	54.0	56.0	56.0		814	3.5	1.0	22	dbSNP_134	56	26,8574	19.2+/-60.6	0,26,4274	yes	missense	RIBC2	NM_015653.3	29	0,30,6473	AA,AG,GG		0.3023,0.0908,0.2307	probably-damaging	272/378	45821982	30,12976	2203	4300	6503	SO:0001583	missense	26150							g.chr22:45821982G>A	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.611G>A	22.37:g.45821982G>A	ENSP00000342529:p.Arg204His					RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H|RIBC2_ENST00000466226.1_3'UTR	p.R204H			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1025	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	204					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	G	22.4	4.283681	0.80803	9.08E-4	0.003023	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.25250	1.81;1.81	4.62	3.54	0.40534	.	0.231857	0.34853	N	0.003630	T	0.42899	0.1223	.	.	.	0.38874	D	0.956764	D	0.89917	1.0	D	0.83275	0.996	T	0.22730	-1.0208	9	0.22706	T	0.39	-3.651	12.9579	0.58441	0.094:0.0:0.906:0.0	.	204	Q9H4K1	RIBC2_HUMAN	H	204;272	ENSP00000342529:R204H;ENSP00000444196:R272H	ENSP00000342529:R204H	R	+	2	0	RIBC2	44200646	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.567000	0.53813	2.378000	0.81104	0.655000	0.94253	CGC		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		6	12	0	0	0	0.217242	0	6	12				
SLC35D3	340146	broad.mit.edu	37	6	137245388	137245388	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245388G>T	ENST00000331858.4	+	2	970	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	269					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCATCACGGTGGGCATGGT	0.592																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(805-807)Gtg>Ttg		solute carrier family 35, member D3							75.0	65.0	68.0					6																	137245388		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245388G>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.805G>T	6.37:g.137245388G>T	ENSP00000333591:p.Val269Leu						p.V269L	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	970	+	Colorectal(23;0.24)		269					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.805G>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112529	0.37242	.	.	ENSG00000182747	ENST00000331858	T	0.61158	0.13	5.68	5.68	0.88126	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	N	0.24115	0.695	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.29518	-1.0009	10	0.11182	T	0.66	-21.2067	19.7951	0.96477	0.0:0.0:1.0:0.0	.	269	Q5M8T2	S35D3_HUMAN	L	269	ENSP00000333591:V269L	ENSP00000333591:V269L	V	+	1	0	SLC35D3	137287081	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.614000	0.74197	2.698000	0.92095	0.561000	0.74099	GTG		0.592	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		21	3	1	0	1.01871e-10	0.575678	1.1048e-10	21	3				
PSMC4	5704	broad.mit.edu	37	19	40480518	40480518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	ENST00000157812.2	+	5	755	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(556-558)aCg>aTg		proteasome (prosome, macropain) 26S subunit, ATPase, 4							54.0	59.0	57.0					19																	40480518		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480518C>T	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.557C>T	19.37:g.40480518C>T	ENSP00000157812:p.Thr186Met					PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M	p.T186M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			5	755	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		186					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.557C>T	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.209072	0.58343	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.28	5.28	0.74379	.	0.100072	0.64402	D	0.000002	D	0.96207	0.8763	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.71656	0.88;0.974	D	0.96684	0.9506	10	0.87932	D	0	-6.3371	16.4	0.83637	0.0:1.0:0.0:0.0	.	155;186	P43686-2;P43686	.;PRS6B_HUMAN	M	186;155	ENSP00000157812:T186M;ENSP00000413869:T155M	ENSP00000157812:T186M	T	+	2	0	PSMC4	45172358	1.000000	0.71417	0.048000	0.18961	0.082000	0.17680	4.719000	0.61937	2.454000	0.82982	0.561000	0.74099	ACG		0.627	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		6	45	0	0	0	0.278610	0	6	45				
OTUD3	23252	broad.mit.edu	37	1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	90	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(265-267)tcgfs		OTU domain containing 3																																				SO:0001589	frameshift_variant	23252							g.chr1:20216922_20216923insA	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.267dupA	1.37:g.20216923_20216923dupA	ENSP00000364261:p.Arg90fs						p.S89fs	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	267_268	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	89			OTU.		O75047	Frame_Shift_Ins	INS	ENST00000375120.3	37	c.266_267insA	CCDS41279.1																																																																																				0.416	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			86	48						86	48	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-	rs566726868	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													|||unknown(HR)	1834	0.366214	0.3752	0.3977	5008	,	,		31479	0.3988		0.335	False		,,,				2504	0.3303					ENST00000436174.1																			0																																																			0							g.chr2:91899626delA																													2.37:g.91899626delA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.289	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			4	7						4	7	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	TCTG	-	rs376504536		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	ENST00000388968.3	-	10	1524_1527	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.DR419fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	419					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1255-1260)gafs		heat shock 60kDa protein 1 (chaperonin)																																				SO:0001589	frameshift_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353171_198353174delTCTG	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1257_1260delCAGA	2.37:g.198353171_198353174delTCTG	ENSP00000373620:p.Asp419fs					HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs	p.DR419fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		10	1524_1527	-			419					B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Del	DEL	ENST00000388968.3	37	c.1257_1260delCAGA	CCDS33357.1																																																																																				0.441	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		57	87						57	87	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	ENST00000248550.7	+	13	1760_1761	c.1684_1685delTC	c.(1684-1686)tctfs	p.S562fs	PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.S528fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1582-1584)tfs		putative homeodomain transcription factor 2																																				SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569563_77569564delTC	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1684_1685delTC	7.37:g.77569565_77569566delTC	ENSP00000248550:p.Ser562fs					PHTF2_ENST00000248550.7_Frame_Shift_Del_p.S562fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs	p.S528fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1708_1709	+			562					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1582_1583delTC																																																																																					0.342	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		47	170						47	170	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563460	55563461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	ENST00000335605.1	+	1	429_430	c.429_430insG	c.(430-432)gccfs	p.A144fs		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.51																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(427-432)tgccctfs		olfactory receptor, family 5, subfamily D, member 14																																				SO:0001589	frameshift_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563460_55563461insG	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.430dupG	11.37:g.55563461_55563461dupG	ENSP00000334456:p.Ala144fs						p.C143fs	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	429_430	+		all_epithelial(135;0.196)	143					Q6IF69|Q6IFD4|Q96RB5	Frame_Shift_Ins	INS	ENST00000335605.1	37	c.429_430insG	CCDS31508.1																																																																																				0.510	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		48	55						48	55	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18259468	18259469	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	ENST00000251900.4	-	15	2164_2165	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_ENST00000398048.3_3'UTR|SCML2_ENST00000491988.1_5'Flank	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	669	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2005-2007)gfs		sex comb on midleg-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18259468_18259469delTT	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.2005_2006delAA	X.37:g.18259468_18259469delTT	ENSP00000251900:p.Lys669fs					SCML2_ENST00000398048.3_3'UTR	p.K669fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			15	2164_2165	-	Hepatocellular(33;0.183)		669			SAM.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Frame_Shift_Del	DEL	ENST00000251900.4	37	c.2005_2006delAA	CCDS14185.1																																																																																				0.342	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		79	116						79	116	---	---	---	---
