#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
RIPPLY3	53820	broad.mit.edu	37	21	38390374	38390374	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr21:38390374G>C	ENST00000329553.2	+	4	650	c.440G>C	c.(439-441)gGc>gCc	p.G147A	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	147					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAGGAAAATGGCCCAGGGGGA	0.632																																						ENST00000329553.2																			0											c.(439-441)gGc>gCc		ripply transcriptional repressor 3							42.0	41.0	42.0					21																	38390374		2203	4300	6503	SO:0001583	missense	53820							g.chr21:38390374G>C	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.440G>C	21.37:g.38390374G>C	ENSP00000331734:p.Gly147Ala					RIPPLY3_ENST00000485272.1_3'UTR	p.G147A	NM_018962.2	NP_061835.1					4	650	+									Missense_Mutation	SNP	ENST00000329553.2	37	c.440G>C	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236341	0.22626	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.56	1.74	0.24563	.	2.253090	0.01732	N	0.028916	T	0.29223	0.0727	N	0.24115	0.695	0.09310	N	1	B	0.25904	0.137	B	0.23419	0.046	T	0.15065	-1.0450	9	0.16420	T	0.52	-1.0593	6.189	0.20513	0.3102:0.0:0.6898:0.0	.	147	P57055	DSCR6_HUMAN	A	147	.	ENSP00000331734:G147A	G	+	2	0	DSCR6	37312244	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.332000	0.19751	0.650000	0.30769	-0.316000	0.08728	GGC		0.632	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			16	17	0	0	0	1	0	16	17				
SPATA5	166378	broad.mit.edu	37	4	123855466	123855466	+	Silent	SNP	G	G	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:123855466G>T	ENST00000274008.4	+	5	789	c.720G>T	c.(718-720)ctG>ctT	p.L240L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	240					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGTTAGATCTGGAGGATACCC	0.428																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(718-720)ctG>ctT		spermatogenesis associated 5							91.0	86.0	88.0					4																	123855466		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855466G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.720G>T	4.37:g.123855466G>T						SPATA5_ENST00000422835.2_3'UTR	p.L240L	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			5	789	+			240					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.720G>T	CCDS3730.1																																																																																				0.428	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		23	29	1	0	1.50039e-11	1	1.60507e-11	23	29				
CASZ1	54897	broad.mit.edu	37	1	10711029	10711029	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:10711029G>A	ENST00000377022.3	-	12	3102	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	CASZ1_ENST00000344008.5_Missense_Mutation_p.R929C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	929					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTAGACTGCGGTCCTGGGAG	0.711																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2785-2787)Cgc>Tgc		castor zinc finger 1							13.0	18.0	16.0					1																	10711029		2194	4290	6484	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10711029G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2785C>T	1.37:g.10711029G>A	ENSP00000366221:p.Arg929Cys					CASZ1_ENST00000344008.5_Missense_Mutation_p.R929C|RP4-734G22.3_ENST00000606802.1_RNA	p.R929C	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	12	3102	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	929					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2785C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957245	0.73902	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.04	5.04	0.67666	.	0.241746	0.43416	D	0.000562	T	0.60945	0.2308	N	0.24115	0.695	0.47994	D	0.999563	D;D	0.76494	0.999;0.998	P;P	0.59056	0.851;0.731	T	0.66480	-0.5913	9	0.87932	D	0	-34.8153	16.9563	0.86260	0.0:0.0:1.0:0.0	.	929;929	Q86V15-2;Q86V15	.;CASZ1_HUMAN	C	929	.	ENSP00000339445:R929C	R	-	1	0	CASZ1	10633616	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.049000	0.71053	2.503000	0.84419	0.591000	0.81541	CGC		0.711	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		8	19	0	0	0	1	0	8	19				
BRINP3	339479	broad.mit.edu	37	1	190067523	190067523	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:190067523C>T	ENST00000367462.3	-	8	2157	c.1926G>A	c.(1924-1926)gaG>gaA	p.E642E	BRINP3_ENST00000534846.1_Silent_p.E540E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	642					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGTAAATGCTCTCATTACCAT	0.418																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1924-1926)gaG>gaA									165.0	173.0	170.0					1																	190067523		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190067523C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1926G>A	1.37:g.190067523C>T						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.E540E	p.E642E	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2157	-	Prostate(682;0.198)		642					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1926G>A	CCDS1373.1																																																																																				0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		101	5	0	0	0	1	0	101	5				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.Q546R(30)|p.Q546P(18)|p.Q546L(5)		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)	ATCACTGAGCAGGAGAAAGAT	0.363		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"""		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	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.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	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.chr3:178936095A>G		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.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	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)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			32	18	0	0	0	1	0	32	18				
LRRFIP1	9208	broad.mit.edu	37	2	238643971	238643971	+	Intron	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:238643971C>G	ENST00000392000.4	+	5	366				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R184G|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTCCGGCTCCCGTGCTGTAAG	0.652																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(550-552)Cgt>Ggt		leucine rich repeat (in FLII) interacting protein 1							43.0	43.0	43.0					2																	238643971		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238643971C>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.250-13036C>G	2.37:g.238643971C>G						LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	p.R184G	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	619	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	55					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.550C>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418385	0.25552	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.42900	0.96	4.98	0.359	0.16088	.	.	.	.	.	T	0.23492	0.0568	N	0.19112	0.55	0.09310	N	1	B	0.28055	0.199	B	0.25759	0.063	T	0.17531	-1.0366	9	0.52906	T	0.07	.	3.98	0.09490	0.161:0.5419:0.0:0.2971	.	184	E9PGZ2	.	G	184;174	ENSP00000310109:R184G	ENSP00000310109:R184G	R	+	1	0	LRRFIP1	238308710	0.002000	0.14202	0.001000	0.08648	0.367000	0.29736	0.730000	0.26043	-0.174000	0.10743	0.655000	0.94253	CGT		0.652	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		5	19	0	0	0	1	0	5	19				
NRXN2	9379	broad.mit.edu	37	11	64453157	64453157	+	Silent	SNP	G	G	A	rs201527514		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:64453157G>A	ENST00000377551.1	-	5	1324	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	NRXN2_ENST00000377559.3_Silent_p.N347N|NRXN2_ENST00000409571.1_Silent_p.N371N|NRXN2_ENST00000265459.6_Silent_p.N371N			Q9P2S2	NRX2A_HUMAN	neurexin 2	371	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGTGCCAGGCGTTGTCGTTGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19869	0.0		0.001	False		,,,				2504	0.0					ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1111-1113)aaC>aaT		neurexin 2							148.0	139.0	142.0					11																	64453157		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64453157G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1113C>T	11.37:g.64453157G>A						NRXN2_ENST00000377551.1_Silent_p.N371N|NRXN2_ENST00000377559.3_Silent_p.N347N|NRXN2_ENST00000409571.1_Silent_p.N371N	p.N371N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			6	1574	-			371			Laminin G-like 2.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1113C>T	CCDS8077.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.111|9.111	1.006530|1.006530	0.19199|0.19199	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000417749	.|.	.|.	.|.	4.0|4.0	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.56558|0.56558	0.1993|0.1993	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51124|0.51124	-0.8745|-0.8745	4|4	.|.	.|.	.|.	.|.	8.614|8.614	0.33820|0.33820	0.2139:0.0:0.7861:0.0|0.2139:0.0:0.7861:0.0	.|.	.|.	.|.	.|.	C|M	161|132	.|.	.|.	R|T	-|-	1|2	0|0	NRXN2|NRXN2	64209733|64209733	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.920000|0.920000	0.28705|0.28705	0.806000|0.806000	0.34183|0.34183	0.467000|0.467000	0.42956|0.42956	CGC|ACG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		62	65	0	0	0	1	0	62	65				
PCDHB6	56130	broad.mit.edu	37	5	140531787	140531787	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140531787G>C	ENST00000231136.1	+	1	1949	c.1949G>C	c.(1948-1950)cGc>cCc	p.R650P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R514P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCGCGCTCGGCCACC	0.701																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1948-1950)cGc>cCc									20.0	23.0	22.0					5																	140531787		2040	4024	6064	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531787G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1949G>C	5.37:g.140531787G>C	ENSP00000231136:p.Arg650Pro					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R514P	p.R650P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1949	+			650			Cadherin 6.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1949G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890522	0.17613	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.54071	0.59;0.59	4.51	0.322	0.15888	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63698	0.2533	M	0.68952	2.095	0.30215	N	0.79735	P	0.50943	0.94	P	0.61477	0.889	T	0.61143	-0.7122	9	0.59425	D	0.04	.	8.7426	0.34567	0.1173:0.0:0.4959:0.3869	.	650	Q9Y5E3	PCDB6_HUMAN	P	514;650	ENSP00000438466:R514P;ENSP00000231136:R650P	ENSP00000231136:R650P	R	+	2	0	PCDHB6	140511971	0.001000	0.12720	0.882000	0.34594	0.013000	0.08279	0.708000	0.25719	-0.131000	0.11578	-0.410000	0.06199	CGC		0.701	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		43	40	0	0	0	1	0	43	40				
DNAH11	8701	broad.mit.edu	37	7	21789392	21789392	+	Missense_Mutation	SNP	G	G	A	rs72657369		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:21789392G>A	ENST00000409508.3	+	53	8801	c.8770G>A	c.(8770-8772)Gtg>Atg	p.V2924M	DNAH11_ENST00000328843.6_Missense_Mutation_p.V2931M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2931	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGCTTCCTCGTGCTGATTAA	0.428									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8791-8793)Gtg>Atg		dynein, axonemal, heavy chain 11		G	MET/VAL	0,3982		0,0,1991	112.0	108.0	110.0		8792	3.9	1.0	7	dbSNP_130	110	2,8390		0,2,4194	no	missense	DNAH11	NM_003777.3	21	0,2,6185	AA,AG,GG		0.0238,0.0,0.0162	probably-damaging	2931/4524	21789392	2,12372	1991	4196	6187	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21789392G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8770G>A	7.37:g.21789392G>A	ENSP00000475939:p.Val2924Met					DNAH11_ENST00000409508.3_Missense_Mutation_p.V2924M	p.V2931M			Q96DT5	DYH11_HUMAN			54	8822	+			2931			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8791G>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.490627	0.44249	0.0	2.38E-4	ENSG00000105877	ENST00000328843	T	0.39997	1.05	5.73	3.94	0.45596	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.110082	0.64402	N	0.000009	T	0.39545	0.1082	.	.	.	0.46044	D	0.99883	B	0.32160	0.358	B	0.32393	0.145	T	0.09930	-1.0652	9	0.44086	T	0.13	.	16.7889	0.85582	0.0893:0.0:0.9107:0.0	.	2931	Q96DT5	DYH11_HUMAN	M	2931	ENSP00000330671:V2931M	ENSP00000330671:V2931M	V	+	1	0	DNAH11	21755917	1.000000	0.71417	0.962000	0.40283	0.598000	0.36846	5.649000	0.67936	0.378000	0.24764	-1.736000	0.00690	GTG		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		21	17	0	0	0	1	0	21	17				
EPHB6	2051	broad.mit.edu	37	7	142562260	142562260	+	Silent	SNP	C	C	A	rs148221019	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:142562260C>A	ENST00000392957.2	+	7	1489	c.702C>A	c.(700-702)gcC>gcA	p.A234A	EPHB6_ENST00000442129.1_Silent_p.A234A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	234	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTGCCCTGCCGTGCTCCGAT	0.667																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(700-702)gcC>gcA		EPH receptor B6							65.0	74.0	71.0					7																	142562260		2199	4294	6493	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562260C>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.702C>A	7.37:g.142562260C>A						EPHB6_ENST00000442129.1_Silent_p.A234A|EPHB6_ENST00000411471.2_Intron	p.A234A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1489	+	Melanoma(164;0.059)		234			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.702C>A	CCDS5873.2																																																																																				0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			41	78	1	0	9.73076e-26	1	1.06575e-25	41	78				
ICAM4	3386	broad.mit.edu	37	19	10398002	10398002	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:10398002G>C	ENST00000380770.3	+	1	360	c.314G>C	c.(313-315)aGg>aCg	p.R105T	ICAM4_ENST00000393717.2_Missense_Mutation_p.R105T|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.R105T	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	105	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTCGACGTGAGGGCCTGGAGC	0.667																																						ENST00000393717.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(313-315)aGg>aCg		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							23.0	24.0	23.0					19																	10398002		2203	4300	6503	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398002G>C	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.314G>C	19.37:g.10398002G>C	ENSP00000370147:p.Arg105Thr					CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.R105T|ICAM4_ENST00000340992.4_Missense_Mutation_p.R105T	p.R105T	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	323	+			105			Ig-like C2-type 1.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.314G>C	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159732	0.38119	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.12569	2.67;2.67;2.67	4.18	3.11	0.35812	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.270367	0.31257	N	0.007969	T	0.09247	0.0228	L	0.34521	1.04	0.29345	N	0.865727	P;P;B	0.42785	0.75;0.79;0.43	B;B;B	0.38954	0.187;0.285;0.286	T	0.12811	-1.0533	10	0.15499	T	0.54	-10.0181	9.5824	0.39495	0.0:0.214:0.786:0.0	.	105;105;105	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	T	105	ENSP00000342114:R105T;ENSP00000370147:R105T;ENSP00000377320:R105T	ENSP00000342114:R105T	R	+	2	0	ICAM4	10259002	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	1.246000	0.32803	0.933000	0.37291	0.491000	0.48974	AGG		0.667	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		10	29	0	0	0	1	0	10	29				
B3GALTL	145173	broad.mit.edu	37	13	31835102	31835102	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:31835102C>T	ENST00000343307.4	+	7	628	c.479C>T	c.(478-480)gCa>gTa	p.A160V	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	160					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTGGGAAAAGCATTACATGAT	0.348																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(478-480)gCa>gTa		beta 1,3-galactosyltransferase-like							95.0	97.0	96.0					13																	31835102		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31835102C>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.479C>T	13.37:g.31835102C>T	ENSP00000343002:p.Ala160Val					B3GALTL_ENST00000461652.2_3'UTR	p.A160V	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	7	628	+		Lung SC(185;0.0257)	160					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.479C>T	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799702	0.90538	.	.	ENSG00000187676	ENST00000343307	T	0.63255	-0.03	5.38	5.38	0.77491	.	0.055303	0.64402	D	0.000001	T	0.79902	0.4526	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.82165	-0.0592	10	0.72032	D	0.01	-24.1151	19.1358	0.93428	0.0:1.0:0.0:0.0	.	160	Q6Y288	B3GLT_HUMAN	V	160	ENSP00000343002:A160V	ENSP00000343002:A160V	A	+	2	0	B3GALTL	30733102	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	5.414000	0.66405	2.523000	0.85059	0.650000	0.86243	GCA		0.348	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		7	8	0	0	0	1	0	7	8				
VWA5A	4013	broad.mit.edu	37	11	124006949	124006949	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:124006949C>G	ENST00000456829.2	+	13	1724	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.I491M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	491								p.I491I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493																																						ENST00000456829.2																			1	Substitution - coding silent(1)	p.I491I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1471-1473)atC>atG		von Willebrand factor A domain containing 5A							115.0	106.0	109.0					11																	124006949		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124006949C>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1473C>G	11.37:g.124006949C>G	ENSP00000407726:p.Ile491Met					VWA5A_ENST00000392748.1_Missense_Mutation_p.I491M|VWA5A_ENST00000360334.4_Intron	p.I491M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			13	1724	+			491					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1473C>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874173	0.33069	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04970	3.52;3.52	5.35	3.49	0.39957	.	0.298040	0.34959	N	0.003548	T	0.11707	0.0285	M	0.80847	2.515	0.80722	D	1	P	0.45078	0.85	B	0.42163	0.378	T	0.01715	-1.1289	10	0.66056	D	0.02	-17.7334	9.8694	0.41164	0.0:0.8316:0.0:0.1684	.	491	O00534	VMA5A_HUMAN	M	491	ENSP00000407726:I491M;ENSP00000376504:I491M	ENSP00000376504:I491M	I	+	3	3	VWA5A	123512159	0.997000	0.39634	0.216000	0.23742	0.320000	0.28249	0.310000	0.19356	0.643000	0.30638	-0.143000	0.13931	ATC		0.493	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		26	39	0	0	0	1	0	26	39				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	86	0	0	0	1	0	4	86				
GPR20	2843	broad.mit.edu	37	8	142367311	142367311	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:142367311C>T	ENST00000377741.3	-	2	803	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	238					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTGCATGGCCCGCACGCGGCG	0.667																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(712-714)cGg>cAg		G protein-coupled receptor 20							17.0	14.0	15.0					8																	142367311		2178	4277	6455	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367311C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.713G>A	8.37:g.142367311C>T	ENSP00000366970:p.Arg238Gln						p.R238Q	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	803	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		238					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.713G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853971	0.71719	.	.	ENSG00000204882	ENST00000377741	T	0.40225	1.04	4.77	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.179093	0.36066	U	0.002817	T	0.41465	0.1160	L	0.54908	1.71	0.27378	N	0.955491	D	0.54772	0.968	P	0.47162	0.54	T	0.38779	-0.9645	10	0.72032	D	0.01	-27.1861	7.7726	0.29017	0.0:0.7354:0.0:0.2646	.	238	Q99678	GPR20_HUMAN	Q	238	ENSP00000366970:R238Q	ENSP00000366970:R238Q	R	-	2	0	GPR20	142436493	0.924000	0.31332	0.994000	0.49952	0.910000	0.53928	2.540000	0.45727	1.000000	0.39049	0.462000	0.41574	CGG		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		3	23	0	0	0	1	0	3	23				
KGFLP2	654466	broad.mit.edu	37	9	41962715	41962715	+	lincRNA	SNP	A	A	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr9:41962715A>T	ENST00000454645.1	-	0	789					NR_003670.1																						CCAGAATTAGATCTTTGAAGT	0.353																																						ENST00000454645.1																			0																																																			0							g.chr9:41962715A>T																													9.37:g.41962715A>T								NR_003670.1						0	789	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.353	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			3	11	0	0	0	1	0	3	11				
KCNC4	3749	broad.mit.edu	37	1	110754451	110754451	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:110754451C>T	ENST00000369787.3	+	1	357	c.330C>T	c.(328-330)taC>taT	p.Y110Y	KCNC4_ENST00000413138.3_Silent_p.Y110Y|KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000438661.2_Silent_p.Y110Y	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	110					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCAACTACTACCGCACCGGCA	0.677																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(328-330)taC>taT		potassium voltage-gated channel, Shaw-related subfamily, member 4							39.0	45.0	43.0					1																	110754451		2203	4299	6502	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754451C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.330C>T	1.37:g.110754451C>T						KCNC4_ENST00000438661.2_Silent_p.Y110Y|KCNC4_ENST00000413138.3_Silent_p.Y110Y	p.Y110Y	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	357	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	110					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.330C>T	CCDS821.1																																																																																				0.677	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		23	26	0	0	0	1	0	23	26				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	73	0	0	0	1	0	4	73				
MOGAT2	80168	broad.mit.edu	37	11	75439191	75439191	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:75439191T>C	ENST00000198801.5	+	4	720		c.e4+2		MOGAT2_ENST00000526712.1_Splice_Site	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2						diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GACACACGGGTATCAAGCCTC	0.547																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.e3+2		monoacylglycerol O-acyltransferase 2							26.0	23.0	24.0					11																	75439191		2200	4293	6493	SO:0001630	splice_region_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439191T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.650+2T>C	11.37:g.75439191T>C						MOGAT2_ENST00000198801.5_Splice_Site				Q3SYC2	MOGT2_HUMAN			3	1177	+	Ovarian(111;0.103)							A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Splice_Site	SNP	ENST00000198801.5	37		CCDS8240.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629771	0.87660	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.335	0.66584	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MOGAT2	75116839	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	7.568000	0.82369	2.271000	0.75665	0.459000	0.35465	.		0.547	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098	Intron	15	3	0	0	0	1	0	15	3				
PDE4D	5144	broad.mit.edu	37	5	58289244	58289244	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:58289244G>C	ENST00000340635.6	-	7	1145	c.970C>G	c.(970-972)Cgg>Ggg	p.R324G	PDE4D_ENST00000502484.2_Missense_Mutation_p.R263G|PDE4D_ENST00000503258.1_Missense_Mutation_p.R194G|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188G|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263G|PDE4D_ENST00000358923.6_Missense_Mutation_p.R22G|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33G|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260G|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	324					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTTCCAGACCGACTCATTTCA	0.318																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(970-972)Cgg>Ggg		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						82.0	80.0	81.0					5																	58289244		1813	4078	5891	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58289244G>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.970C>G	5.37:g.58289244G>C	ENSP00000345502:p.Arg324Gly					PDE4D_ENST00000503258.1_Missense_Mutation_p.R194G|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260G|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188G|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33G|PDE4D_ENST00000502484.2_Missense_Mutation_p.R263G|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263G|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202G|PDE4D_ENST00000358923.6_Missense_Mutation_p.R22G	p.R324G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	7	1145	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	324					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.970C>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206099	0.79127	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.69175	-0.37;-0.35;-0.37;-0.28;-0.3;-0.35;-0.35;-0.37;-0.37;-0.38	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.92412	3.305	0.58432	D	0.99999	D;D;D;D;D;D;P;P	0.67145	0.992;0.987;0.992;0.996;0.996;0.992;0.862;0.928	D;D;D;D;D;D;P;P	0.72982	0.979;0.953;0.979;0.969;0.969;0.979;0.607;0.702	D	0.88287	0.2940	10	0.72032	D	0.01	.	13.6911	0.62547	0.0:0.0:0.7057:0.2943	.	263;324;260;187;202;194;99;33	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	G	324;193;188;260;22;33;194;202;263;263;22	ENSP00000345502:R324G;ENSP00000353152:R188G;ENSP00000424852:R260G;ENSP00000351800:R22G;ENSP00000321739:R33G;ENSP00000425605:R194G;ENSP00000384806:R202G;ENSP00000423094:R263G;ENSP00000442734:R263G;ENSP00000421013:R22G	ENSP00000321739:R33G	R	-	1	2	PDE4D	58325001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.455000	0.60075	1.341000	0.45600	0.557000	0.71058	CGG		0.318	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			10	16	0	0	0	1	0	10	16				
MT-ND4	4538	broad.mit.edu	37	M	11718	11718	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chrM:11718G>A	ENST00000361381.2	+	1	959	c.959G>A	c.(958-960)gGg>gAg	p.G320E	MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	320					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AATCGCCCACGGACTCACATC	0.483																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(958-960)gGg>gAg		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11718G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.959G>A	M.37:g.11718G>A	ENSP00000354961:p.Gly320Glu						p.320_320insE							1	959	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.959G>A																																																																																					0.483	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		5	126	0	0	0	1	0	5	126				
OR4K2	390431	broad.mit.edu	37	14	20344949	20344949	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:20344949G>T	ENST00000298642.2	+	1	559	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGAGGTAGACAGCTTTTT	0.458																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(523-525)Gac>Tac		olfactory receptor, family 4, subfamily K, member 2							432.0	425.0	427.0					14																	20344949		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344949G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.523G>T	14.37:g.20344949G>T	ENSP00000298642:p.Asp175Tyr						p.D175Y	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	559	+	all_cancers(95;0.00108)		175					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.523G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	9.760	1.169799	0.21621	.	.	ENSG00000165762	ENST00000298642	T	0.00193	8.58	5.12	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.120078	0.36740	N	0.002435	T	0.00412	0.0013	M	0.85373	2.75	0.09310	N	1	B	0.25772	0.134	B	0.40565	0.333	T	0.05989	-1.0852	10	0.87932	D	0	.	12.0283	0.53384	0.0:0.3351:0.6649:0.0	.	175	Q8NGD2	OR4K2_HUMAN	Y	175	ENSP00000298642:D175Y	ENSP00000298642:D175Y	D	+	1	0	OR4K2	19414789	0.000000	0.05858	0.795000	0.32087	0.632000	0.37999	-0.216000	0.09266	1.370000	0.46153	0.563000	0.77884	GAC		0.458	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			124	229	1	0	1.77382e-44	1	1.96616e-44	124	229				
TP53	7157	broad.mit.edu	37	17	7577569	7577569	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:7577569A>G	ENST00000269305.4	-	7	901	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	TP53_ENST00000455263.2_Missense_Mutation_p.C238R|TP53_ENST00000420246.2_Missense_Mutation_p.C238R|TP53_ENST00000359597.4_Missense_Mutation_p.C238R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238R|TP53_ENST00000413465.2_Missense_Mutation_p.C238R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAACTGTTACACATGTAGTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		60	Substitution - Missense(31)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)	ovary(11)|liver(7)|biliary_tract(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|skin(2)|prostate(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM025271|CM056070	TP53	M		c.(712-714)Tgt>Cgt	Other conserved DNA damage response genes	tumor protein p53							131.0	103.0	112.0					17																	7577569		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577569A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.712T>C	17.37:g.7577569A>G	ENSP00000269305:p.Cys238Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C238R|TP53_ENST00000413465.2_Missense_Mutation_p.C238R|TP53_ENST00000359597.4_Missense_Mutation_p.C238R|TP53_ENST00000445888.2_Missense_Mutation_p.C238R|TP53_ENST00000455263.2_Missense_Mutation_p.C238R	p.C238R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	844	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.712T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062565	0.76187	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95386	0.8477	10	0.87932	D	0	-18.536	11.6823	0.51466	1.0:0.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238R;ENSP00000352610:C238R;ENSP00000269305:C238R;ENSP00000398846:C238R;ENSP00000391127:C238R;ENSP00000391478:C238R;ENSP00000425104:C106R;ENSP00000423862:C145R	ENSP00000269305:C238R	C	-	1	0	TP53	7518294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	TGT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	6	0	0	0	1	0	41	6				
DYNLRB1	83658	broad.mit.edu	37	20	33122480	33122480	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:33122480C>T	ENST00000357156.2	+	3	178	c.128C>T	c.(127-129)gCc>gTc	p.A43V	DYNLRB1_ENST00000417166.2_Missense_Mutation_p.A43V|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.A95V	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	43					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						ACCCAGTATGCCAGCCTCATG	0.572																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(127-129)gCc>gTc		dynein, light chain, roadblock-type 1							129.0	96.0	107.0					20																	33122480		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122480C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.128C>T	20.37:g.33122480C>T	ENSP00000349679:p.Ala43Val					DYNLRB1_ENST00000374846.3_Missense_Mutation_p.A95V|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Missense_Mutation_p.A43V	p.A43V			Q9NP97	DLRB1_HUMAN			3	161	+			43					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.128C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240464	0.95240	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.41758	0.99;0.99;0.99	5.06	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	.	.	.	0.80722	D	1	D;P	0.60575	0.988;0.933	P;P	0.61722	0.893;0.718	T	0.61652	-0.7019	9	0.48119	T	0.1	-20.9901	13.3753	0.60734	0.0:0.9234:0.0:0.0766	.	43;43	B4DFR2;Q9NP97	.;DLRB1_HUMAN	V	43;43;95	ENSP00000349679:A43V;ENSP00000409090:A43V;ENSP00000363979:A95V	ENSP00000349679:A43V	A	+	2	0	DYNLRB1	32586141	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.638000	0.83328	1.371000	0.46172	0.655000	0.94253	GCC		0.572	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		4	119	0	0	0	1	0	4	119				
CHST10	9486	broad.mit.edu	37	2	101011979	101011979	+	Silent	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:101011979A>G	ENST00000264249.3	-	6	910	c.525T>C	c.(523-525)atT>atC	p.I175I	CHST10_ENST00000409701.1_Silent_p.I175I|CHST10_ENST00000542617.1_Silent_p.I223I	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	175					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACCGCTTCTGAATTTCTGCAT	0.507																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(523-525)atT>atC		carbohydrate sulfotransferase 10							80.0	77.0	78.0					2																	101011979		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101011979A>G	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.525T>C	2.37:g.101011979A>G						CHST10_ENST00000542617.1_Silent_p.I223I|CHST10_ENST00000409701.1_Silent_p.I175I	p.I175I	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			6	910	-			175					Q53T18	Silent	SNP	ENST00000264249.3	37	c.525T>C	CCDS2047.1																																																																																				0.507	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		18	35	0	0	0	1	0	18	35				
CFAP46	54777	broad.mit.edu	37	10	134671235	134671235	+	Silent	SNP	C	C	T	rs146998210	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr10:134671235C>T	ENST00000368586.5	-	39	5533	c.5433G>A	c.(5431-5433)gcG>gcA	p.A1811A	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2												p.A1811A(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCAGGCCATACGCTTCCAAGT	0.473													C|||	13	0.00259585	0.0098	0.0	5008	,	,		18658	0.0		0.0	False		,,,				2504	0.0					ENST00000368586.5																			1	Substitution - coding silent(1)	p.A1811A(1)	urinary_tract(1)	breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(5431-5433)gcG>gcA		tetratricopeptide repeat domain 40																																				SO:0001819	synonymous_variant	54777							g.chr10:134671235C>T																												ENST00000368586.5:c.5433G>A	10.37:g.134671235C>T						TTC40_ENST00000263170.5_5'UTR	p.A1811A	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			39	5533	-			476						Silent	SNP	ENST00000368586.5	37	c.5433G>A	CCDS58101.1																																																																																				0.473	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			16	13	0	0	0	1	0	16	13				
FGF10	2255	broad.mit.edu	37	5	44305205	44305205	+	Silent	SNP	C	C	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:44305205C>A	ENST00000264664.4	-	3	633	c.519G>T	c.(517-519)ggG>ggT	p.G173G		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	173					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ACATTTGCCTCCCATTATGCT	0.413																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(517-519)ggG>ggT		fibroblast growth factor 10							278.0	240.0	253.0					5																	44305205		2203	4300	6503	SO:0001819	synonymous_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44305205C>A		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.519G>T	5.37:g.44305205C>A							p.G173G	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			3	633	-	Lung NSC(6;1.12e-06)		173					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.519G>T	CCDS3950.1																																																																																				0.413	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		30	129	1	0	4.40665e-25	1	4.76955e-25	30	129				
MT-ND6	4541	broad.mit.edu	37	M	14582	14582	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chrM:14582A>G	ENST00000361681.2	-	1	91	c.92T>C	c.(91-93)gTa>gCa	p.V31A	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	31			V -> A. {ECO:0000269|PubMed:11133798}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TAACAATCAGTACTAAACCCC	0.383																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(91-93)gTa>gCa		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14582A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.92T>C	M.37:g.14582A>G	ENSP00000354665:p.Val31Ala						p.V31A							1	91	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.92T>C																																																																																					0.383	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		32	87	0	0	0	1	0	32	87				
OR2C1	4993	broad.mit.edu	37	16	3406726	3406726	+	Silent	SNP	G	G	A	rs376908052		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:3406726G>A	ENST00000304936.2	+	1	838	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	262					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTGCTTCCGGCCAAGAACA	0.552																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(784-786)ccG>ccA		olfactory receptor, family 2, subfamily C, member 1				0,4394		0,0,2197	117.0	98.0	105.0		786	-1.5	0.8	16		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2C1	NM_012368.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		262/313	3406726	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406726G>A	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.786G>A	16.37:g.3406726G>A							p.P262P	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	838	+			262					A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	c.786G>A	CCDS10502.1																																																																																				0.552	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			15	38	0	0	0	1	0	15	38				
MBD1	4152	broad.mit.edu	37	18	47799975	47799975	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr18:47799975C>G	ENST00000591416.1	-	12	1836	c.1405G>C	c.(1405-1407)Gtg>Ctg	p.V469L	MBD1_ENST00000587605.1_Missense_Mutation_p.V413L|MBD1_ENST00000585595.1_Missense_Mutation_p.V494L|MBD1_ENST00000269468.5_Missense_Mutation_p.V469L|MBD1_ENST00000353909.3_Missense_Mutation_p.V420L|MBD1_ENST00000269471.5_Missense_Mutation_p.V446L|MBD1_ENST00000347968.3_Missense_Mutation_p.V413L|MBD1_ENST00000398488.1_Missense_Mutation_p.V413L|MBD1_ENST00000339998.6_Missense_Mutation_p.V469L|MBD1_ENST00000398495.2_Missense_Mutation_p.V438L|MBD1_ENST00000424334.2_Missense_Mutation_p.V520L|MBD1_ENST00000585672.1_Missense_Mutation_p.V419L|MBD1_ENST00000436910.1_Missense_Mutation_p.V446L|MBD1_ENST00000349085.2_Missense_Mutation_p.V413L|MBD1_ENST00000591535.1_Missense_Mutation_p.V446L|MBD1_ENST00000590208.1_Missense_Mutation_p.V469L|MBD1_ENST00000382948.5_Missense_Mutation_p.V469L|MBD1_ENST00000398493.1_Missense_Mutation_p.V413L|MBD1_ENST00000457839.2_Missense_Mutation_p.V494L|MBD1_ENST00000588937.1_Missense_Mutation_p.V446L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	469					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGGCCCGGCACCTGCACAGGA	0.642																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1405-1407)Gtg>Ctg		methyl-CpG binding domain protein 1							39.0	39.0	39.0					18																	47799975		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799975C>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1405G>C	18.37:g.47799975C>G	ENSP00000467017:p.Val469Leu					MBD1_ENST00000339998.6_Missense_Mutation_p.V469L|MBD1_ENST00000398493.1_Missense_Mutation_p.V413L|MBD1_ENST00000398488.1_Missense_Mutation_p.V413L|MBD1_ENST00000585672.1_Missense_Mutation_p.V419L|MBD1_ENST00000587605.1_Missense_Mutation_p.V413L|MBD1_ENST00000269468.5_Missense_Mutation_p.V469L|MBD1_ENST00000585595.1_Missense_Mutation_p.V494L|MBD1_ENST00000269471.5_Missense_Mutation_p.V446L|MBD1_ENST00000457839.2_Missense_Mutation_p.V494L|MBD1_ENST00000436910.1_Missense_Mutation_p.V446L|MBD1_ENST00000424334.2_Missense_Mutation_p.V520L|MBD1_ENST00000588937.1_Missense_Mutation_p.V446L|MBD1_ENST00000398495.2_Missense_Mutation_p.V438L|MBD1_ENST00000382948.5_Missense_Mutation_p.V469L|MBD1_ENST00000353909.3_Missense_Mutation_p.V420L|MBD1_ENST00000349085.2_Missense_Mutation_p.V413L|MBD1_ENST00000591535.1_Missense_Mutation_p.V446L|MBD1_ENST00000347968.3_Missense_Mutation_p.V413L|MBD1_ENST00000590208.1_Missense_Mutation_p.V469L	p.V469L			Q9UIS9	MBD1_HUMAN			12	1836	-			469					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1405G>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348449	0.41599	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-3.9;-3.92;-4.01;-3.9;-3.98;-3.98;-3.99;-3.93;-3.92;-3.9;-3.98;-4.01	4.45	3.56	0.40772	.	0.264692	0.27522	N	0.018981	D	0.95401	0.8507	L	0.27053	0.805	0.27535	N	0.950989	P;P;B;B;P;P;B;D;B;B;B;B	0.53312	0.836;0.955;0.384;0.158;0.832;0.898;0.25;0.959;0.158;0.373;0.158;0.373	B;D;B;B;B;B;B;D;B;B;B;B	0.67103	0.245;0.946;0.207;0.156;0.426;0.426;0.184;0.949;0.156;0.297;0.156;0.297	D	0.89875	0.4026	10	0.54805	T	0.06	-6.1302	8.9585	0.35832	0.0:0.8984:0.0:0.1016	.	413;520;446;469;469;446;420;413;469;413;494;413	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	L	469;420;413;469;413;446;446;520;469;469;494;413;413	ENSP00000372407:V469L;ENSP00000269469:V420L;ENSP00000342531:V413L;ENSP00000269468:V469L;ENSP00000285102:V413L;ENSP00000409561:V446L;ENSP00000269471:V446L;ENSP00000408846:V520L;ENSP00000339546:V469L;ENSP00000405268:V494L;ENSP00000381506:V413L;ENSP00000381502:V413L	ENSP00000269468:V469L	V	-	1	0	MBD1	46053973	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.806000	0.38892	1.439000	0.47511	0.561000	0.74099	GTG		0.642	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		21	20	0	0	0	1	0	21	20				
ATP11B	23200	broad.mit.edu	37	3	182597349	182597349	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:182597349T>G	ENST00000323116.5	+	20	2578	c.2318T>G	c.(2317-2319)cTc>cGc	p.L773R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	773					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTCTTGCACTCAGGGAGCAT	0.378																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2317-2319)cTc>cGc		ATPase, class VI, type 11B							98.0	98.0	98.0					3																	182597349		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182597349T>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2318T>G	3.37:g.182597349T>G	ENSP00000321195:p.Leu773Arg						p.L773R	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		20	2578	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		773					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2318T>G	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.298979|4.298979	0.81025|0.81025	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	D;T|.	0.93076|.	-3.16;2.53|.	4.78|4.78	4.78|4.78	0.61160|0.61160	HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87430|0.87430	0.6175|0.6175	H|H	0.97131|0.97131	3.945|3.945	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.91623|0.91623	0.5312|0.5312	10|5	0.87932|.	D|.	0|.	.|.	14.466|14.466	0.67485|0.67485	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	347;773|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	R|A	773;8|574	ENSP00000321195:L773R;ENSP00000417124:L8R|.	ENSP00000321195:L773R|.	L|S	+|+	2|1	0|0	ATP11B|ATP11B	184080043|184080043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.473000|7.473000	0.81007|0.81007	2.002000|2.002000	0.58637|0.58637	0.477000|0.477000	0.44152|0.44152	CTC|TCA		0.378	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		45	24	0	0	0	1	0	45	24				
OPRM1	4988	broad.mit.edu	37	6	154360937	154360937	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:154360937C>T	ENST00000330432.7	+	1	495	c.258C>T	c.(256-258)ttC>ttT	p.F86F	OPRM1_ENST00000452687.2_Silent_p.F86F|OPRM1_ENST00000414028.2_Silent_p.F86F|OPRM1_ENST00000524163.1_Silent_p.F86F|OPRM1_ENST00000229768.5_Silent_p.F86F|OPRM1_ENST00000428397.2_Silent_p.F86F|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Silent_p.F86F|OPRM1_ENST00000435918.2_Silent_p.F86F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Silent_p.F86F|OPRM1_ENST00000434900.2_Silent_p.F179F|OPRM1_ENST00000360422.4_Silent_p.F86F	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	86					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGGGCTCTTCGGAAACTTCC	0.592																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(256-258)ttC>ttT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						77.0	79.0	78.0					6																	154360937		2001	4173	6174	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360937C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.258C>T	6.37:g.154360937C>T						OPRM1_ENST00000337049.4_Silent_p.F86F|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000419506.2_Silent_p.F86F|OPRM1_ENST00000435918.2_Silent_p.F86F|OPRM1_ENST00000360422.4_Silent_p.F86F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000330432.7_Silent_p.F86F|OPRM1_ENST00000434900.2_Silent_p.F179F|OPRM1_ENST00000524163.1_Silent_p.F86F|OPRM1_ENST00000452687.2_Silent_p.F86F|OPRM1_ENST00000428397.2_Silent_p.F86F|OPRM1_ENST00000229768.5_Silent_p.F86F|OPRM1_ENST00000518759.1_Intron	p.F86F	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	308	+		Ovarian(120;0.196)	86					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.258C>T	CCDS55070.1																																																																																				0.592	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		21	52	0	0	0	1	0	21	52				
POLR1A	25885	broad.mit.edu	37	2	86302260	86302260	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:86302260C>T	ENST00000263857.6	-	12	1882	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	POLR1A_ENST00000409681.1_Missense_Mutation_p.G502S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	502					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGCGGCTGCCGTCCTCATTG	0.627																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1504-1506)Ggc>Agc		polymerase (RNA) I polypeptide A, 194kDa							34.0	37.0	36.0					2																	86302260		2032	4196	6228	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86302260C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1504G>A	2.37:g.86302260C>T	ENSP00000263857:p.Gly502Ser					POLR1A_ENST00000409681.1_Missense_Mutation_p.G502S	p.G502S			O95602	RPA1_HUMAN			12	1882	-			502					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1504G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728773	0.89390	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.72282	-0.64;-0.64	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.097001	0.64402	D	0.000001	D	0.85159	0.5633	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	-25.0626	18.1227	0.89577	0.0:1.0:0.0:0.0	.	502	O95602	RPA1_HUMAN	S	502	ENSP00000263857:G502S;ENSP00000386300:G502S	ENSP00000263857:G502S	G	-	1	0	POLR1A	86155771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.245000	0.78237	2.606000	0.88127	0.655000	0.94253	GGC		0.627	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		12	7	0	0	0	1	0	12	7				
MFSD3	113655	broad.mit.edu	37	8	145735980	145735980	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:145735980G>A	ENST00000301327.4	+	3	1090		c.e3-1		CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCCATCCCAGGAAACTGCTG	0.637																																						ENST00000301327.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8						c.e3-1		major facilitator superfamily domain containing 3							102.0	114.0	110.0					8																	145735980		2203	4300	6503	SO:0001630	splice_region_variant	113655				transmembrane transport	integral to membrane		g.chr8:145735980G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.831-1G>A	8.37:g.145735980G>A								NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1090	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	SNP	ENST00000301327.4	37		CCDS6431.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456404	0.26161	.	.	ENSG00000167700	ENST00000301327	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2986	0.66331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD3	145706788	0.993000	0.37304	0.902000	0.35471	0.024000	0.10985	2.582000	0.46085	2.444000	0.82710	0.561000	0.74099	.		0.637	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431	Intron	164	158	0	0	0	1	0	164	158				
MT-CO3	4514	broad.mit.edu	37	M	9616	9616	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chrM:9616T>C	ENST00000362079.2	+	1	410	c.410T>C	c.(409-411)tTa>tCa	p.L137S	MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	137					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CACATCCGTATTACTCGCATC	0.488																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(409-411)tTa>tCa		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9616T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.410T>C	M.37:g.9616T>C	ENSP00000354982:p.Leu137Ser						p.137_137insS							1	410	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.410T>C																																																																																					0.488	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		128	3	0	0	0	1	0	128	3				
ECEL1	9427	broad.mit.edu	37	2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:233346218G>A	ENST00000304546.1	-	14	2197	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	663					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1987-1989)Cgg>Tgg		endothelin converting enzyme-like 1							45.0	45.0	45.0					2																	233346218		2202	4300	6502	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346218G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1987C>T	2.37:g.233346218G>A	ENSP00000302051:p.Arg663Trp					ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	p.R663W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2197	-		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)	663					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1987C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915669	0.73098	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.90732	-1.71;-2.72;-2.72	5.21	4.32	0.51571	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.052706	0.64402	D	0.000001	D	0.94251	0.8154	M	0.75884	2.315	0.53005	D	0.999965	D;D	0.76494	0.997;0.999	P;D	0.68353	0.766;0.957	D	0.93931	0.7214	10	0.46703	T	0.11	-33.0649	13.9204	0.63928	0.0:0.0:0.5619:0.4381	.	661;663	O95672-2;O95672	.;ECEL1_HUMAN	W	78;663;661	ENSP00000412683:R78W;ENSP00000302051:R663W;ENSP00000386333:R661W	ENSP00000302051:R663W	R	-	1	2	ECEL1	233054462	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.364000	0.52328	1.317000	0.45149	0.558000	0.71614	CGG		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		10	15	0	0	0	1	0	10	15				
CEP41	95681	broad.mit.edu	37	7	130080807	130080807	+	Start_Codon_SNP	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:130080807T>C	ENST00000223208.5	-	1	271	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CEP41_ENST00000343969.5_Start_Codon_SNP_p.M1V|CEP41_ENST00000541543.1_Start_Codon_SNP_p.M1V|CEP41_ENST00000489512.1_Start_Codon_SNP_p.M1V|CEP41_ENST00000495702.1_5'UTR	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	1					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CGGAGGGACATATTTTCTCCA	0.632																																						ENST00000223208.4																			0											c.(1-3)Atg>Gtg		centrosomal protein 41kDa							56.0	65.0	62.0					7																	130080807		2203	4300	6503	SO:0001582	initiator_codon_variant	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130080807T>C	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1A>G	7.37:g.130080807T>C	ENSP00000223208:p.Met1Val					CEP41_ENST00000343969.5_Start_Codon_SNP_p.M1V|CEP41_ENST00000541543.1_Start_Codon_SNP_p.M1V|CEP41_ENST00000495702.1_5'UTR|CEP41_ENST00000489512.1_Start_Codon_SNP_p.M1V	p.M1V	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			1	271	-			1					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Translation_Start_Site	SNP	ENST00000223208.5	37	c.1A>G	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453898	0.63290	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000489512	D;D;D	0.92048	-2.96;-2.5;-2.83	5.64	5.64	0.86602	.	0.043402	0.85682	D	0.000000	D	0.95306	0.8477	.	.	.	0.80722	D	1	P;B;B	0.43578	0.811;0.114;0.104	P;B;B	0.60789	0.879;0.078;0.024	D	0.95527	0.8600	9	0.72032	D	0.01	1.3148	12.2317	0.54492	0.0:0.0:0.0:1.0	.	1;1;1	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	V	1	ENSP00000223208:M1V;ENSP00000445888:M1V;ENSP00000342738:M1V	ENSP00000223208:M1V	M	-	1	0	TSGA14	129868043	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.560000	0.53763	2.143000	0.66587	0.459000	0.35465	ATG		0.632	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	Missense_Mutation	17	31	0	0	0	1	0	17	31				
UQCRC1	7384	broad.mit.edu	37	3	48646687	48646687	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:48646687G>C	ENST00000203407.5	-	2	534	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	UQCRC1_ENST00000493806.1_5'Flank	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	40					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGGAGCGCCTGAGCGAAGGTT	0.667																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(118-120)Cag>Gag		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						29.0	29.0	29.0					3																	48646687		2199	4297	6496	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48646687G>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.118C>G	3.37:g.48646687G>C	ENSP00000203407:p.Gln40Glu						p.Q40E	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	534	-			40					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.118C>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798342	0.70567	.	.	ENSG00000010256	ENST00000203407	T	0.12147	2.71	5.05	4.17	0.49024	.	0.055973	0.64402	D	0.000001	T	0.13798	0.0334	M	0.72894	2.215	0.49389	D	0.999786	P	0.39576	0.679	B	0.31016	0.123	T	0.08086	-1.0739	10	0.11182	T	0.66	-20.8386	14.5364	0.67963	0.0:0.1473:0.8527:0.0	.	40	P31930	QCR1_HUMAN	E	40	ENSP00000203407:Q40E	ENSP00000203407:Q40E	Q	-	1	0	UQCRC1	48621691	1.000000	0.71417	0.995000	0.50966	0.717000	0.41224	6.834000	0.75339	1.116000	0.41820	-0.302000	0.09304	CAG		0.667	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		35	1	0	0	0	1	0	35	1				
MGAT5	4249	broad.mit.edu	37	2	135012115	135012115	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:135012115C>T	ENST00000409645.1	+	2	393	c.141C>T	c.(139-141)cgC>cgT	p.R47R	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Silent_p.R47R			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	47					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCATGCTGCGCGAGCAGATCC	0.512																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(139-141)cgC>cgT		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							109.0	100.0	103.0					2																	135012115		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135012115C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.141C>T	2.37:g.135012115C>T						MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Silent_p.R47R	p.R47R			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	2	393	+			47					D3DP70	Silent	SNP	ENST00000409645.1	37	c.141C>T	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		19	39	0	0	0	1	0	19	39				
PCDHA2	56146	broad.mit.edu	37	5	140174613	140174613	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140174613G>A	ENST00000526136.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A22T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A22T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTCCTCGCAGCCTGGGA	0.622																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(64-66)Gca>Aca									31.0	38.0	36.0					5																	140174613		2202	4300	6502	SO:0001583	missense	0							g.chr5:140174613G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.64G>A	5.37:g.140174613G>A	ENSP00000431748:p.Ala22Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A22T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A22T	p.A22T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	64	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.64G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	0.636	-0.815280	0.02776	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52057	0.75;0.68;0.72	3.8	0.762	0.18454	Cadherin (1);	0.447550	0.16181	N	0.225838	T	0.23688	0.0573	N	0.21142	0.635	0.09310	N	1	B;B;B	0.20887	0.049;0.013;0.022	B;B;B	0.19148	0.02;0.024;0.02	T	0.17715	-1.0360	10	0.08381	T	0.77	.	3.5441	0.07821	0.2715:0.0:0.4233:0.3052	.	22;22;22	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	22	ENSP00000430584:A22T;ENSP00000367372:A22T;ENSP00000431748:A22T	ENSP00000367372:A22T	A	+	1	0	PCDHA2	140154797	0.000000	0.05858	0.133000	0.22050	0.005000	0.04900	-1.503000	0.02277	0.320000	0.23234	-1.324000	0.01287	GCA		0.622	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		30	30	0	0	0	1	0	30	30				
OR51A7	119687	broad.mit.edu	37	11	4929145	4929145	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:4929145G>C	ENST00000359350.4	+	1	546	c.546G>C	c.(544-546)caG>caC	p.Q182H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTTCATCAGGATACCATGA	0.403																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(544-546)caG>caC		olfactory receptor, family 51, subfamily A, member 7							183.0	154.0	163.0					11																	4929145		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929145G>C	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.546G>C	11.37:g.4929145G>C	ENSP00000352305:p.Gln182His					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.Q182H	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	546	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	182					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.546G>C	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881912	0.33255	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.36878	1.23	5.02	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.155531	0.30185	N	0.010212	T	0.40196	0.1107	M	0.81682	2.555	0.22591	N	0.998951	B	0.34399	0.452	B	0.37346	0.247	T	0.36578	-0.9742	10	0.62326	D	0.03	.	9.1967	0.37233	0.3068:0.0:0.6932:0.0	.	182	Q8NH64	O51A7_HUMAN	H	182;182;171	ENSP00000352305:Q182H	ENSP00000352305:Q182H	Q	+	3	2	OR51A7	4885721	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.546000	0.06062	0.035000	0.15519	-0.140000	0.14226	CAG		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		21	41	0	0	0	1	0	21	41				
LRP10	26020	broad.mit.edu	37	14	23345059	23345059	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:23345059C>G	ENST00000359591.4	+	5	1593	c.902C>G	c.(901-903)aCc>aGc	p.T301S	LRP10_ENST00000546834.1_Missense_Mutation_p.T301S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	301	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTCAATGCCACCTACCATGTG	0.582																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(901-903)aCc>aGc		low density lipoprotein receptor-related protein 10							93.0	80.0	84.0					14																	23345059		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345059C>G	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.902C>G	14.37:g.23345059C>G	ENSP00000352601:p.Thr301Ser					LRP10_ENST00000546834.1_Missense_Mutation_p.T301S	p.T301S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1593	+	all_cancers(95;4.69e-05)		301			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.902C>G	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.155855|4.155855	0.78114|0.78114	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.18016	.|2.24;2.24	5.97|5.97	5.97|5.97	0.96955|0.96955	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37237|0.37237	0.0996|0.0996	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.51188	.|T	.|0.08	-28.3679|-28.3679	19.1994|19.1994	0.93704|0.93704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301	.|Q7Z4F1	.|LRP10_HUMAN	Q|S	202|301	.|ENSP00000352601:T301S;ENSP00000447559:T301S	.|ENSP00000352601:T301S	H|T	+|+	3|2	2|0	LRP10|LRP10	22414899|22414899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.294000|7.294000	0.78760|0.78760	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			24	39	0	0	0	1	0	24	39				
LOC101927079	101927079	broad.mit.edu	37	15	22332651	22332651	+	RNA	SNP	G	G	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr15:22332651G>T	ENST00000558896.1	+	0	458																											CTCTGCCAAAGATGTTAGGGG	0.453																																						ENST00000558896.1																			0																																																			0							g.chr15:22332651G>T																													15.37:g.22332651G>T														0	458	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.453	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			16	76	1	0	1.15088e-07	1	1.20319e-07	16	76				
ANGPTL2	23452	broad.mit.edu	37	9	129853995	129853995	+	Silent	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr9:129853995G>A	ENST00000373425.3	-	4	1853	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.N110N|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	412	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ACTGCTTGCCGTTGTGCCATG	0.537																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1234-1236)aaC>aaT		angiopoietin-like 2							209.0	202.0	205.0					9																	129853995		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129853995G>A	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1236C>T	9.37:g.129853995G>A						RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.N110N	p.N412N	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1853	-			412			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.1236C>T	CCDS6868.1																																																																																				0.537	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		99	94	0	0	0	1	0	99	94				
OR9Q2	219957	broad.mit.edu	37	11	57958846	57958846	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:57958846A>G	ENST00000311591.3	+	1	941	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTGAGAAACAAGGAGGTAAAA	0.498																																						ENST00000311591.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(883-885)aAg>aGg		olfactory receptor, family 9, subfamily Q, member 2							65.0	69.0	68.0					11																	57958846		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958846A>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.884A>G	11.37:g.57958846A>G	ENSP00000308714:p.Lys295Arg						p.K295R	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	941	+		Breast(21;0.0589)	295						Missense_Mutation	SNP	ENST00000311591.3	37	c.884A>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192641	0.21954	.	.	ENSG00000186513	ENST00000311591	T	0.41065	1.01	5.09	3.98	0.46160	.	0.000000	0.48286	D	0.000195	T	0.23886	0.0578	N	0.13198	0.31	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.10636	-1.0621	10	0.59425	D	0.04	-17.0462	6.8443	0.23980	0.787:0.0:0.213:0.0	.	295	Q8NGE9	OR9Q2_HUMAN	R	295	ENSP00000308714:K295R	ENSP00000308714:K295R	K	+	2	0	OR9Q2	57715422	0.352000	0.24895	0.774000	0.31636	0.390000	0.30446	1.465000	0.35299	2.255000	0.74692	0.533000	0.62120	AAG		0.498	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		32	49	0	0	0	1	0	32	49				
RC3H1	149041	broad.mit.edu	37	1	173907982	173907982	+	Silent	SNP	T	T	C	rs184786158		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:173907982T>C	ENST00000367696.2	-	20	3630	c.3279A>G	c.(3277-3279)acA>acG	p.T1093T	RC3H1_ENST00000367694.2_Silent_p.T1085T|RC3H1_ENST00000258349.4_Silent_p.T1093T			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1093					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TATTCTCTTGTGTCAAGGCTG	0.413													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.0					ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(3277-3279)acA>acG		ring finger and CCCH-type domains 1							117.0	112.0	114.0					1																	173907982		2203	4300	6503	SO:0001819	synonymous_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173907982T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3279A>G	1.37:g.173907982T>C						RC3H1_ENST00000367694.2_Silent_p.T1085T|RC3H1_ENST00000258349.4_Silent_p.T1093T	p.T1093T			Q5TC82	RC3H1_HUMAN			20	3630	-			1093					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.3279A>G	CCDS30940.1																																																																																				0.413	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		17	19	0	0	0	1	0	17	19				
PLCB4	5332	broad.mit.edu	37	20	9343593	9343593	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:9343593C>T	ENST00000378493.1	+	5	435	c.420C>T	c.(418-420)aaC>aaT	p.N140N	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.N140N|PLCB4_ENST00000334005.3_Silent_p.N140N|PLCB4_ENST00000414679.2_Silent_p.N140N|PLCB4_ENST00000278655.4_Silent_p.N140N|PLCB4_ENST00000378501.2_Silent_p.N140N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	140					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGGCCAACAACGTCAGTCCAA	0.413																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(418-420)aaC>aaT		phospholipase C, beta 4							178.0	155.0	163.0					20																	9343593		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9343593C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.420C>T	20.37:g.9343593C>T						PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.N140N|PLCB4_ENST00000378493.1_Silent_p.N140N|PLCB4_ENST00000334005.3_Silent_p.N140N|PLCB4_ENST00000378473.3_Silent_p.N140N|PLCB4_ENST00000278655.4_Silent_p.N140N	p.N140N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			5	435	+			140					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.420C>T	CCDS13105.1																																																																																				0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			8	7	0	0	0	1	0	8	7				
STEAP4	79689	broad.mit.edu	37	7	87912423	87912423	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:87912423G>A	ENST00000380079.4	-	3	618	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	173					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTAAGTCCAAGATTACGAACA	0.388																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(517-519)Ctt>Ttt		STEAP family member 4							82.0	79.0	80.0					7																	87912423		1907	4132	6039	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912423G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.517C>T	7.37:g.87912423G>A	ENSP00000369419:p.Leu173Phe					AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000434733.1_RNA	p.L173F	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	618	-	Esophageal squamous(14;0.00802)		173					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.517C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102784	0.56183	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19669	2.13;2.13	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.67953	2.075	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13953	-1.0490	10	0.46703	T	0.11	-12.0725	15.2004	0.73132	0.0:0.0:0.8592:0.1408	.	173;173	C9JS50;Q687X5	.;STEA4_HUMAN	F	173	ENSP00000369419:L173F;ENSP00000394399:L173F	ENSP00000369419:L173F	L	-	1	0	STEAP4	87750359	1.000000	0.71417	0.967000	0.41034	0.371000	0.29859	3.297000	0.51810	2.838000	0.97847	0.591000	0.81541	CTT		0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		18	20	0	0	0	1	0	18	20				
ZNF324B	388569	broad.mit.edu	37	19	58965695	58965695	+	Silent	SNP	C	C	T	rs148369158	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:58965695C>T	ENST00000336614.4	+	3	329	c.222C>T	c.(220-222)taC>taT	p.Y74Y	ZNF324B_ENST00000594214.1_Silent_p.Y74Y|ZNF324B_ENST00000545523.1_Silent_p.Y74Y|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGAACACCTACGGGAGGCTCA	0.577													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21632	0.0		0.001	False		,,,				2504	0.0					ENST00000336614.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(220-222)taC>taT		zinc finger protein 324B		C		0,4406		0,0,2203	91.0	80.0	83.0		222	-5.5	0.0	19	dbSNP_134	83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ZNF324B	NM_207395.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		74/545	58965695	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965695C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.222C>T	19.37:g.58965695C>T						ZNF324B_ENST00000545523.1_Silent_p.Y74Y|ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Silent_p.Y74Y	p.Y74Y	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	329	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	74					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.222C>T	CCDS33138.1																																																																																				0.577	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		18	55	0	0	0	1	0	18	55				
NPR3	4883	broad.mit.edu	37	5	32712485	32712485	+	Silent	SNP	A	A	C	rs536801135		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:32712485A>C	ENST00000265074.8	+	1	946	c.603A>C	c.(601-603)gcA>gcC	p.A201A	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.A201A|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	201					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGCGCTGCACTGGTCTACA	0.632																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(601-603)gcA>gcC		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						44.0	51.0	49.0					5																	32712485		2093	4207	6300	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712485A>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.603A>C	5.37:g.32712485A>C						NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.A201A|NPR3_ENST00000415685.2_Intron	p.A201A	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	946	+			201					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.603A>C	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	0.949	-0.706984	0.03230	.	.	ENSG00000113389	ENST00000507141	.	.	.	4.89	-0.49	0.12049	.	.	.	.	.	T	0.44414	0.1292	.	.	.	0.40880	D	0.983988	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-7.2564	4.7272	0.12946	0.153:0.2169:0.5329:0.0973	.	.	.	.	P	17	.	.	T	+	1	0	NPR3	32748242	0.043000	0.20138	0.228000	0.23943	0.243000	0.25628	0.159000	0.16442	0.014000	0.14944	-1.066000	0.02275	ACT		0.632	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		26	133	0	0	0	1	0	26	133				
TENM3	55714	broad.mit.edu	37	4	183600828	183600828	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:183600828G>A	ENST00000511685.1	+	8	1459	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M	TENM3_ENST00000406950.2_Missense_Mutation_p.V446M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	446					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTATGACTTCGTGGAGCTCCT	0.532																																						ENST00000511685.1																			0											c.(1336-1338)Gtg>Atg		teneurin transmembrane protein 3							53.0	55.0	54.0					4																	183600828		1907	4110	6017	SO:0001583	missense	55714							g.chr4:183600828G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1336G>A	4.37:g.183600828G>A	ENSP00000424226:p.Val446Met					TENM3_ENST00000406950.2_Missense_Mutation_p.V446M	p.V446M							8	1459	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1336G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555431	0.45487	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34072	1.38;1.38	5.52	5.52	0.82312	.	.	.	.	.	T	0.41488	0.1161	L	0.42529	1.33	0.58432	D	0.999994	D	0.76494	0.999	P	0.49799	0.622	T	0.03863	-1.0997	9	0.20046	T	0.44	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	446	Q9P273	TEN3_HUMAN	M	446	ENSP00000424226:V446M;ENSP00000385276:V446M	ENSP00000385276:V446M	V	+	1	0	ODZ3	183837822	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.860000	0.86993	2.873000	0.98535	0.563000	0.77884	GTG		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	27	0	0	0	1	0	12	27				
ZNF107	51427	broad.mit.edu	37	7	64167232	64167232	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:64167232G>A	ENST00000395391.1	+	4	1925	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	ZNF107_ENST00000423627.1_Missense_Mutation_p.E184K|ZNF107_ENST00000344930.3_Missense_Mutation_p.E184K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCATACTGAAGAGAAACC	0.368																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(550-552)Gaa>Aaa		zinc finger protein 107							34.0	36.0	35.0					7																	64167232		2201	4298	6499	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167232G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.550G>A	7.37:g.64167232G>A	ENSP00000378789:p.Glu184Lys					ZNF107_ENST00000344930.3_Missense_Mutation_p.E184K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E184K	p.E184K			Q9UII5	ZN107_HUMAN			4	1925	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	184						Missense_Mutation	SNP	ENST00000395391.1	37	c.550G>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.93	2.681445	0.47991	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.15834	2.39;2.39;2.39	1.38	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	L	0.37850	1.14	0.28096	N	0.931608	P	0.36048	0.534	B	0.26517	0.07	T	0.17745	-1.0359	8	.	.	.	.	8.2014	0.31428	0.0:0.0:1.0:0.0	.	184	Q9UII5	ZN107_HUMAN	K	184	ENSP00000343443:E184K;ENSP00000400037:E184K;ENSP00000378789:E184K	.	E	+	1	0	ZNF107	63804667	0.992000	0.36948	0.018000	0.16275	0.081000	0.17604	2.937000	0.48979	0.712000	0.32039	0.448000	0.29417	GAA		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		11	21	0	0	0	1	0	11	21				
CRTAM	56253	broad.mit.edu	37	11	122726442	122726442	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:122726442G>A	ENST00000227348.4	+	5	577	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGAAGAAATGTAATACTACC	0.413																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(529-531)tGt>tAt		cytotoxic and regulatory T cell molecule							112.0	108.0	109.0					11																	122726442		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726442G>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.530G>A	11.37:g.122726442G>A	ENSP00000227348:p.Cys177Tyr						p.C177Y	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	577	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	177			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000227348.4	37	c.530G>A	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	6.466	0.454122	0.12283	.	.	ENSG00000109943	ENST00000227348	T	0.09817	2.94	4.86	1.9	0.25705	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.491146	0.24388	N	0.038957	T	0.16685	0.0401	M	0.62723	1.935	0.09310	N	0.999997	D	0.57257	0.979	P	0.61477	0.889	T	0.11641	-1.0579	10	0.02654	T	1	.	5.6441	0.17580	0.2527:0.1563:0.591:0.0	.	177	O95727	CRTAM_HUMAN	Y	177	ENSP00000227348:C177Y	ENSP00000227348:C177Y	C	+	2	0	CRTAM	122231652	0.776000	0.28616	0.001000	0.08648	0.477000	0.33069	1.379000	0.34340	0.188000	0.20168	0.462000	0.41574	TGT		0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		16	25	0	0	0	1	0	16	25				
MYO1B	4430	broad.mit.edu	37	2	192227005	192227005	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:192227005C>G	ENST00000392318.3	+	9	920	c.673C>G	c.(673-675)Ctt>Gtt	p.L225V	MYO1B_ENST00000304164.4_Missense_Mutation_p.L225V|MYO1B_ENST00000339514.4_Missense_Mutation_p.L225V|MYO1B_ENST00000392316.1_Missense_Mutation_p.L225V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	225	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAACTTAAGCTTGAGAGGGA	0.383																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(673-675)Ctt>Gtt		myosin IB							110.0	109.0	110.0					2																	192227005		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192227005C>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.673C>G	2.37:g.192227005C>G	ENSP00000376132:p.Leu225Val					MYO1B_ENST00000339514.4_Missense_Mutation_p.L225V|MYO1B_ENST00000392316.1_Missense_Mutation_p.L225V|MYO1B_ENST00000304164.4_Missense_Mutation_p.L225V	p.L225V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		9	920	+			225			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.673C>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999316	0.74818	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	5.8	5.8	0.92144	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.97204	0.9086	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97128	0.9816	10	0.56958	D	0.05	.	18.2511	0.90004	0.0:1.0:0.0:0.0	.	225;225	O43795;O43795-2	MYO1B_HUMAN;.	V	225	ENSP00000341903:L225V;ENSP00000376132:L225V;ENSP00000306382:L225V;ENSP00000388140:L225V;ENSP00000376130:L225V	ENSP00000306382:L225V	L	+	1	0	MYO1B	191935250	1.000000	0.71417	0.983000	0.44433	0.902000	0.53008	2.814000	0.48010	2.744000	0.94065	0.655000	0.94253	CTT		0.383	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		19	25	0	0	0	1	0	19	25				
OBSCN	84033	broad.mit.edu	37	1	228511259	228511259	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:228511259G>A	ENST00000422127.1	+	56	15648	c.15604G>A	c.(15604-15606)Gag>Aag	p.E5202K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E6159K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5202K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2321K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2836K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5202	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTGGCCGAGAACAGCAT	0.582																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18475-18477)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							68.0	71.0	70.0					1																	228511259		2175	4275	6450	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511259G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15604G>A	1.37:g.228511259G>A	ENSP00000409493:p.Glu5202Lys					OBSCN_ENST00000422127.1_Missense_Mutation_p.E5202K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2836K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5202K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2321K	p.E6159K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			67	18549	+		Prostate(94;0.0405)	5202			Ig-like 53.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18475G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790493	0.90367	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	N	0.20610	0.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74503	-0.3644	10	0.51188	T	0.08	.	19.3855	0.94554	0.0:0.0:1.0:0.0	.	5202;5202	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	5202;5202;2836;2321	ENSP00000284548:E5202K;ENSP00000409493:E5202K;ENSP00000355668:E2836K;ENSP00000355670:E2321K	ENSP00000284548:E5202K	E	+	1	0	OBSCN	226577882	1.000000	0.71417	0.969000	0.41365	0.024000	0.10985	9.587000	0.98229	2.808000	0.96608	0.655000	0.94253	GAG		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		21	22	0	0	0	1	0	21	22				
KIAA1033	23325	broad.mit.edu	37	12	105543428	105543428	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:105543428C>T	ENST00000332180.5	+	25	2637	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F		NM_015275.1	NP_056090.1			KIAA1033									p.F850L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAAGAAGTTCTATATATTTA	0.234																																						ENST00000332180.5																			1	Substitution - Missense(1)	p.F850L(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2548-2550)ttC>ttT		KIAA1033							51.0	52.0	52.0					12																	105543428		1777	4026	5803	SO:0001819	synonymous_variant	23325				endosome transport	WASH complex		g.chr12:105543428C>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2550C>T	12.37:g.105543428C>T							p.F850F	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			25	2637	+			850						Silent	SNP	ENST00000332180.5	37	c.2550C>T	CCDS41826.1																																																																																				0.234	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		21	24	0	0	0	1	0	21	24				
TMEM131	23505	broad.mit.edu	37	2	98429149	98429149	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:98429149C>G	ENST00000186436.5	-	16	1909	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	561						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTACTTGCTTCTGTAGCACTC	0.308																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1681-1683)Gaa>Caa		transmembrane protein 131							62.0	62.0	62.0					2																	98429149		1803	4063	5866	SO:0001583	missense	23505					integral to membrane		g.chr2:98429149C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1681G>C	2.37:g.98429149C>G	ENSP00000186436:p.Glu561Gln						p.E561Q	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			16	1909	-			561						Missense_Mutation	SNP	ENST00000186436.5	37	c.1681G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680192	0.88542	.	.	ENSG00000075568	ENST00000186436	T	0.34072	1.38	5.57	5.57	0.84162	.	0.145182	0.64402	D	0.000009	T	0.50667	0.1629	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.28650	-1.0037	10	0.33141	T	0.24	-23.438	18.0982	0.89497	0.0:1.0:0.0:0.0	.	561	Q92545	TM131_HUMAN	Q	561	ENSP00000186436:E561Q	ENSP00000186436:E561Q	E	-	1	0	TMEM131	97795581	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAA		0.308	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	18	0	0	0	1	0	10	18				
RNF43	54894	broad.mit.edu	37	17	56434921	56434921	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:56434921G>A	ENST00000584437.1	-	8	4171	c.2216C>T	c.(2215-2217)cCa>cTa	p.P739L	RNF43_ENST00000583753.1_Missense_Mutation_p.P698L|RNF43_ENST00000577716.1_Missense_Mutation_p.P739L|RNF43_ENST00000407977.2_Missense_Mutation_p.P739L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.P612L|RNF43_ENST00000577625.1_Missense_Mutation_p.P612L|RNF43_ENST00000500597.2_Missense_Mutation_p.P698L			Q68DV7	RNF43_HUMAN	ring finger protein 43	739	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCCCAGGTGGATGTGGTTC	0.607																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2215-2217)cCa>cTa		ring finger protein 43							78.0	79.0	79.0					17																	56434921		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434921G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2216C>T	17.37:g.56434921G>A	ENSP00000463069:p.Pro739Leu					RNF43_ENST00000583753.1_Missense_Mutation_p.P698L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.P612L|RNF43_ENST00000407977.2_Missense_Mutation_p.P739L|RNF43_ENST00000500597.2_Missense_Mutation_p.P698L|RNF43_ENST00000577716.1_Missense_Mutation_p.P739L|RNF43_ENST00000581868.1_Missense_Mutation_p.P612L	p.P739L			Q68DV7	RNF43_HUMAN			8	4171	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		739			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2216C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	3.096	-0.185768	0.06340	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.06768	3.42;3.26	5.71	1.29	0.21616	.	0.248081	0.28977	N	0.013521	T	0.02807	0.0084	N	0.12746	0.255	0.09310	N	1	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.42666	-0.9438	10	0.02654	T	1	-9.5573	1.4958	0.02466	0.188:0.1702:0.4664:0.1755	.	698;739;739	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	739;698	ENSP00000385328:P739L;ENSP00000441969:P698L	ENSP00000385328:P739L	P	-	2	0	RNF43	53789920	0.143000	0.22626	0.314000	0.25224	0.282000	0.26991	0.687000	0.25407	0.274000	0.22072	0.511000	0.50034	CCA		0.607	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		44	83	0	0	0	1	0	44	83				
EPPK1	83481	broad.mit.edu	37	8	144940592	144940592	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:144940592C>T	ENST00000525985.1	-	2	6901	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H				P58107	EPIPL_HUMAN	epiplakin 1	2277						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCAGGTTGCGCACGGGGTC	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6829-6831)cGc>cAc		epiplakin 1							52.0	48.0	49.0					8																	144940592		2162	4234	6396	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940592C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6830G>A	8.37:g.144940592C>T	ENSP00000436337:p.Arg2277His						p.R2277H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6901	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2277					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6830G>A		.	.	.	.	.	.	.	.	.	.	C	14.51	2.558039	0.45590	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.63	-0.861	0.10676	.	.	.	.	.	T	0.50633	0.1627	N	0.12182	0.205	0.21740	N	0.999565	B	0.19445	0.036	B	0.26094	0.066	T	0.38993	-0.9635	9	0.39692	T	0.17	.	9.0307	0.36258	0.0:0.3929:0.0:0.6071	.	2277	E9PPU0	.	H	2277	ENSP00000436337:R2277H	ENSP00000436337:R2277H	R	-	2	0	EPPK1	145012580	0.000000	0.05858	0.041000	0.18516	0.997000	0.91878	-0.986000	0.03747	-0.395000	0.07715	0.586000	0.80456	CGC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	263	0	0	0	1	0	13	263				
PAX7	5081	broad.mit.edu	37	1	19018402	19018402	+	Silent	SNP	C	C	T	rs148641282		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:19018402C>T	ENST00000375375.3	+	5	1339	c.741C>T	c.(739-741)cgC>cgT	p.R247R	PAX7_ENST00000400661.3_Silent_p.R245R|PAX7_ENST00000420770.2_Silent_p.R247R	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	247					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TATACACCCGCGAGGAGCTGG	0.607			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(739-741)cgC>cgT		paired box 7							42.0	38.0	39.0					1																	19018402		2202	4299	6501	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018402C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.741C>T	1.37:g.19018402C>T						PAX7_ENST00000375375.3_Silent_p.R247R|PAX7_ENST00000400661.3_Silent_p.R245R	p.R247R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	824	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	247					E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.741C>T	CCDS186.1																																																																																				0.607	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		13	20	0	0	0	1	0	13	20				
XKR4	114786	broad.mit.edu	37	8	56270402	56270402	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:56270402T>G	ENST00000327381.6	+	2	1071	c.971T>G	c.(970-972)aTt>aGt	p.I324S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	324						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTCTGCATTATCGTACAG	0.453																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(970-972)aTt>aGt		XK, Kell blood group complex subunit-related family, member 4							120.0	104.0	110.0					8																	56270402		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270402T>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.971T>G	8.37:g.56270402T>G	ENSP00000328326:p.Ile324Ser						p.I324S	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1071	+			324					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.971T>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890310	0.72524	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.74106	-0.81	5.96	5.96	0.96718	.	0.048098	0.85682	D	0.000000	D	0.85712	0.5760	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86965	0.2094	10	0.72032	D	0.01	-4.2836	16.4447	0.83919	0.0:0.0:0.0:1.0	.	324	Q5GH76	XKR4_HUMAN	S	324	ENSP00000328326:I324S	ENSP00000328326:I324S	I	+	2	0	XKR4	56432956	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	ATT		0.453	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		12	76	0	0	0	1	0	12	76				
ITGA6	3655	broad.mit.edu	37	2	173355990	173355990	+	Silent	SNP	G	G	A	rs34599583	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:173355990G>A	ENST00000264106.6	+	23	3140	c.2937G>A	c.(2935-2937)ccG>ccA	p.P979P	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.P821P|ITGA6_ENST00000343713.4_Silent_p.P935P|ITGA6_ENST00000375221.2_Silent_p.P979P|ITGA6_ENST00000264107.7_Silent_p.P940P|ITGA6_ENST00000409080.1_Silent_p.P940P			P23229	ITA6_HUMAN	integrin, alpha 6	979					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCAGATGCCCGCTGCGGGGGC	0.483													g|||	42	0.00838658	0.031	0.0014	5008	,	,		19255	0.0		0.0	False		,,,				2504	0.0					ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(2935-2937)ccG>ccA		integrin, alpha 6		A	,	98,4308	79.9+/-118.3	0,98,2105	132.0	138.0	136.0		2820,2820	-10.0	0.1	2	dbSNP_126	136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,99,6404	AA,AG,GG		0.0116,2.2242,0.7612	,	940/1074,940/1092	173355990	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173355990G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2937G>A	2.37:g.173355990G>A						AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Silent_p.P979P|ITGA6_ENST00000409532.1_Silent_p.P821P|ITGA6_ENST00000409080.1_Silent_p.P940P|ITGA6_ENST00000264107.7_Silent_p.P940P|ITGA6_ENST00000343713.4_Silent_p.P935P	p.P979P			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3140	+			979					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.2937G>A																																																																																					0.483	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				44	100	0	0	0	1	0	44	100				
PYGB	5834	broad.mit.edu	37	20	25277119	25277119	+	Silent	SNP	C	C	T	rs141315124	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:25277119C>T	ENST00000216962.4	+	20	2603	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	831					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGAGCCCTCCGACCTGCAGA	0.612													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16832	0.0		0.001	False		,,,				2504	0.0					ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2491-2493)tcC>tcT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	C	,	4,4402	8.1+/-20.4	0,4,2199	85.0	69.0	75.0		2493,	-9.6	0.2	20	dbSNP_134	75	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,intron	PYGB,ABHD12	NM_002862.3,NM_015600.4	,	0,20,6483	TT,TC,CC		0.186,0.0908,0.1538	,	831/844,	25277119	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25277119C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2493C>T	20.37:g.25277119C>T						PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	p.S831S	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			20	2603	+			831					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.2493C>T	CCDS13171.1																																																																																				0.612	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		39	33	0	0	0	1	0	39	33				
PRSS12	8492	broad.mit.edu	37	4	119237434	119237434	+	Missense_Mutation	SNP	G	G	C	rs139059047		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:119237434G>C	ENST00000296498.3	-	6	1477	c.1195C>G	c.(1195-1197)Cgc>Ggc	p.R399G		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	399	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACCTCCAAGCGACCCTCATGG	0.458																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1195-1197)Cgc>Ggc		protease, serine, 12 (neurotrypsin, motopsin)							109.0	98.0	101.0					4																	119237434		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119237434G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1195C>G	4.37:g.119237434G>C	ENSP00000296498:p.Arg399Gly						p.R399G	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			6	1477	-			399			SRCR 3.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1195C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740042	0.89573	.	.	ENSG00000164099	ENST00000296498	T	0.36340	1.26	6.16	6.16	0.99307	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.093383	0.64402	D	0.000001	T	0.76941	0.4058	H	0.97806	4.08	0.54753	D	0.999989	D	0.89917	1.0	D	0.78314	0.991	D	0.84407	0.0563	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	399	P56730	NETR_HUMAN	G	399	ENSP00000296498:R399G	ENSP00000296498:R399G	R	-	1	0	PRSS12	119456882	1.000000	0.71417	0.973000	0.42090	0.944000	0.59088	5.222000	0.65277	2.937000	0.99478	0.650000	0.86243	CGC		0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			14	23	0	0	0	1	0	14	23				
ABCA12	26154	broad.mit.edu	37	2	215876784	215876784	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:215876784T>G	ENST00000272895.7	-	16	2251	c.2032A>C	c.(2032-2034)Aat>Cat	p.N678H	ABCA12_ENST00000389661.4_Missense_Mutation_p.N360H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	678					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCATCTGATTGAGAATCTCT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2032-2034)Aat>Cat		ATP-binding cassette, sub-family A (ABC1), member 12							235.0	225.0	229.0					2																	215876784		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876784T>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2032A>C	2.37:g.215876784T>G	ENSP00000272895:p.Asn678His					ABCA12_ENST00000389661.4_Missense_Mutation_p.N360H	p.N678H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	16	2251	-		Renal(323;0.127)	678					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2032A>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264204	0.39995	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88509	-2.39;-2.39	5.58	5.58	0.84498	.	0.438330	0.22002	N	0.066000	T	0.80116	0.4564	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.75039	-0.3458	10	0.38643	T	0.18	.	12.1399	0.53993	0.0:0.0:0.0:1.0	.	678;360	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	678;360	ENSP00000272895:N678H;ENSP00000374312:N360H	ENSP00000272895:N678H	N	-	1	0	ABCA12	215585029	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.149000	0.42244	2.121000	0.65114	0.533000	0.62120	AAT		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		28	79	0	0	0	1	0	28	79				
TMEM97	27346	broad.mit.edu	37	17	26652535	26652535	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:26652535A>C	ENST00000226230.6	+	2	278	c.133A>C	c.(133-135)Aac>Cac	p.N45H	TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.N45H|TMEM97_ENST00000336687.6_5'UTR	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	45					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCAGTTTAGAAACCTGCTGAA	0.468																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(133-135)Aac>Cac		transmembrane protein 97							124.0	124.0	124.0					17																	26652535		1879	4117	5996	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26652535A>C	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.133A>C	17.37:g.26652535A>C	ENSP00000226230:p.Asn45His					TMEM97_ENST00000582113.1_Missense_Mutation_p.N45H|TMEM97_ENST00000336687.6_5'UTR|TMEM97_ENST00000583381.1_5'UTR	p.N45H	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	278	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		45					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.133A>C	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470269	0.84533	.	.	ENSG00000109084	ENST00000226230	.	.	.	5.78	4.68	0.58851	.	0.221856	0.53938	D	0.000058	T	0.55513	0.1925	M	0.63843	1.955	0.80722	D	1	D	0.54601	0.967	P	0.53954	0.738	T	0.58907	-0.7553	9	0.45353	T	0.12	-20.3045	3.9189	0.09234	0.7292:0.0:0.2708:0.0	.	45	Q5BJF2	TMM97_HUMAN	H	45	.	ENSP00000226230:N45H	N	+	1	0	TMEM97	23676662	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.214000	0.58527	2.207000	0.71202	0.460000	0.39030	AAC		0.468	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		53	27	0	0	0	1	0	53	27				
KIF5A	3798	broad.mit.edu	37	12	57972082	57972082	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:57972082T>G	ENST00000455537.2	+	23	2769	c.2495T>G	c.(2494-2496)tTt>tGt	p.F832C	KIF5A_ENST00000286452.5_Missense_Mutation_p.F743C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	832					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGATTTCCTTTCTTGAGAAC	0.478																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2494-2496)tTt>tGt		kinesin family member 5A							83.0	81.0	82.0					12																	57972082		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972082T>G	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2495T>G	12.37:g.57972082T>G	ENSP00000408979:p.Phe832Cys					KIF5A_ENST00000286452.5_Missense_Mutation_p.F743C	p.F832C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2769	+			832					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2495T>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430535	0.83776	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.88975	-2.45;-2.45	5.15	5.15	0.70609	.	0.056012	0.64402	D	0.000001	D	0.95223	0.8451	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96001	0.8993	10	0.87932	D	0	.	14.4593	0.67438	0.0:0.0:0.0:1.0	.	743;832	B7Z2M7;Q12840	.;KIF5A_HUMAN	C	832;743	ENSP00000408979:F832C;ENSP00000286452:F743C	ENSP00000286452:F743C	F	+	2	0	KIF5A	56258349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.313000	0.78055	0.456000	0.33151	TTT		0.478	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		41	113	0	0	0	1	0	41	113				
SH3TC1	54436	broad.mit.edu	37	4	8229382	8229382	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:8229382G>C	ENST00000245105.3	+	12	2028	c.1961G>C	c.(1960-1962)cGg>cCg	p.R654P	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R578P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	654										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGCTGCGGCGGGCGGTGGGT	0.726																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1732-1734)cGg>cCg		SH3 domain and tetratricopeptide repeats 1							10.0	12.0	11.0					4																	8229382		1946	3823	5769	SO:0001583	missense	54436						binding	g.chr4:8229382G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1961G>C	4.37:g.8229382G>C	ENSP00000245105:p.Arg654Pro					SH3TC1_ENST00000245105.3_Missense_Mutation_p.R654P	p.R578P			Q8TE82	S3TC1_HUMAN			12	2107	+			654					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1733G>C	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415951	0.25552	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.45;-1.01	4.16	2.11	0.27256	Tetratricopeptide-like helical (1);	0.539872	0.18409	N	0.142116	T	0.76758	0.4032	L	0.50333	1.59	0.23563	N	0.997408	P	0.49635	0.926	P	0.53912	0.737	T	0.65475	-0.6159	10	0.54805	T	0.06	-6.9886	5.6646	0.17689	0.0861:0.1268:0.6404:0.1466	.	654	Q8TE82	S3TC1_HUMAN	P	392;654;578;483	ENSP00000245105:R654P;ENSP00000441045:R578P	ENSP00000245105:R654P	R	+	2	0	SH3TC1	8280282	0.983000	0.35010	0.109000	0.21407	0.050000	0.14768	1.793000	0.38764	0.751000	0.32900	0.556000	0.70494	CGG		0.726	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		19	15	0	0	0	1	0	19	15				
TRADD	8717	broad.mit.edu	37	16	67189313	67189313	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:67189313C>T	ENST00000345057.4	-	3	864	c.396G>A	c.(394-396)gaG>gaA	p.E132E	TRADD_ENST00000486556.1_Silent_p.E72E|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	132					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AACAGCGCTCCTCGTCCGCCA	0.711																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(394-396)gaG>gaA		TNFRSF1A-associated via death domain							8.0	10.0	10.0					16																	67189313		2050	4104	6154	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189313C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.396G>A	16.37:g.67189313C>T						TRADD_ENST00000486556.1_Silent_p.E72E	p.E132E	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	3	864	-		Ovarian(137;0.0563)	132					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.396G>A	CCDS10829.1																																																																																				0.711	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			19	1	0	0	0	1	0	19	1				
MT-ATP6	4508	broad.mit.edu	37	M	9005	9005	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chrM:9005T>C	ENST00000361899.2	+	1	479	c.479T>C	c.(478-480)cTa>cCa	p.L160P	MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	160					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						GGCCGTACGCCTAACCGCTAA	0.473																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(478-480)cTa>cCa		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:9005T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.479T>C	M.37:g.9005T>C	ENSP00000354632:p.Leu160Pro						p.L160P							1	479	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.479T>C																																																																																					0.473	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		5	120	0	0	0	1	0	5	120				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		4	176	0	0	0	1	0	4	176				
KMT2D	8085	broad.mit.edu	37	12	49445979	49445979	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:49445979G>A	ENST00000301067.7	-	10	1486	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	496	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCAGGCGGCGGAGAGAGGGG	0.617																																						ENST00000301067.7																			0											c.(1486-1488)cCg>cTg		lysine (K)-specific methyltransferase 2D							61.0	69.0	67.0					12																	49445979		2065	4197	6262	SO:0001583	missense	8085							g.chr12:49445979G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1487C>T	12.37:g.49445979G>A	ENSP00000301067:p.Pro496Leu						p.P496L	NM_003482.3	NP_003473.3					10	1486	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1487C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551113	0.13374	.	.	ENSG00000167548	ENST00000301067	T	0.78126	-1.15	4.33	3.43	0.39272	.	.	.	.	.	T	0.54464	0.1860	N	0.08118	0	0.35165	D	0.771019	P	0.35011	0.48	B	0.24006	0.05	T	0.67883	-0.5555	9	0.87932	D	0	.	9.9567	0.41671	0.1035:0.0:0.8965:0.0	.	496	O14686	MLL2_HUMAN	L	496	ENSP00000301067:P496L	ENSP00000301067:P496L	P	-	2	0	MLL2	47732246	0.997000	0.39634	0.924000	0.36721	0.210000	0.24377	2.691000	0.47010	2.401000	0.81631	0.462000	0.41574	CCG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			20	78	0	0	0	1	0	20	78				
SLC8A1	6546	broad.mit.edu	37	2	40342516	40342516	+	Silent	SNP	G	G	A	rs373502373		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:40342516G>A	ENST00000403092.1	-	11	2832	c.2799C>T	c.(2797-2799)atC>atT	p.I933I	SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I925I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I933I|SLC8A1_ENST00000402441.1_Silent_p.I897I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406785.2_Silent_p.I897I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.I897I|SLC8A1_ENST00000405269.1_Silent_p.I897I|SLC8A1_ENST00000406391.2_Silent_p.I897I|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.I928I|SLC8A1_ENST00000542756.1_Silent_p.I928I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	933					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCACCTCCGATTTCTGGCC	0.547																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2689-2691)atC>atT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						65.0	64.0	64.0					2																	40342516		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342516G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2799C>T	2.37:g.40342516G>A						SLC8A1_ENST00000403092.1_Silent_p.I933I|SLC8A1_ENST00000402441.1_Silent_p.I897I|SLC8A1_ENST00000408028.2_Silent_p.I925I|SLC8A1_ENST00000406391.2_Silent_p.I897I|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.I928I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.I897I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I933I|SLC8A1_ENST00000542756.1_Silent_p.I928I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.I897I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA	p.I897I			P32418	NAC1_HUMAN			8	2880	-			933					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2691C>T	CCDS1806.1																																																																																				0.547	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		21	49	0	0	0	1	0	21	49				
NLRP1	22861	broad.mit.edu	37	17	5485302	5485302	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:5485302G>C	ENST00000572272.1	-	3	528	c.529C>G	c.(529-531)Ccc>Gcc	p.P177A	NLRP1_ENST00000269280.4_Missense_Mutation_p.P177A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P177A|NLRP1_ENST00000345221.3_Missense_Mutation_p.P177A|NLRP1_ENST00000262467.5_Missense_Mutation_p.P177A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P177A|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTGGATGTGGGGGCGTTGGGT	0.597																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(529-531)Ccc>Gcc		NLR family, pyrin domain containing 1							48.0	53.0	52.0					17																	5485302		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5485302G>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.529C>G	17.37:g.5485302G>C	ENSP00000460475:p.Pro177Ala					NLRP1_ENST00000572272.1_Missense_Mutation_p.P177A|NLRP1_ENST00000262467.5_Missense_Mutation_p.P177A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P177A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P177A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P177A|NLRP1_ENST00000571307.1_5'UTR	p.P177A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			3	1083	-		Colorectal(1115;3.48e-05)	177					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.529C>G	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028476	0.35797	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	2.95	1.97	0.26223	.	.	.	.	.	T	0.49304	0.1549	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.52061	0.95;0.95;0.916;0.95;0.916	P;P;B;P;B	0.46339	0.513;0.513;0.314;0.513;0.314	T	0.29882	-0.9997	9	0.31617	T	0.26	.	5.9982	0.19505	0.1463:0.0:0.8537:0.0	.	177;177;177;177;177	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	A	177	ENSP00000442029:P177A;ENSP00000262467:P177A;ENSP00000269280:P177A;ENSP00000346390:P177A;ENSP00000324366:P177A	ENSP00000262467:P177A	P	-	1	0	NLRP1	5426026	0.285000	0.24296	0.006000	0.13384	0.049000	0.14656	2.958000	0.49145	0.792000	0.33850	-0.258000	0.10820	CCC		0.597	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		18	24	0	0	0	1	0	18	24				
SACS	26278	broad.mit.edu	37	13	23908318	23908318	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:23908318T>C	ENST00000382292.3	-	9	9970	c.9697A>G	c.(9697-9699)Aag>Gag	p.K3233E	SACS_ENST00000402364.1_Missense_Mutation_p.K2483E|SACS_ENST00000382298.3_Missense_Mutation_p.K3233E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3233					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTTTCCACTTTGTGCAACTT	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9697-9699)Aag>Gag		spastic ataxia of Charlevoix-Saguenay (sacsin)							90.0	87.0	88.0					13																	23908318		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908318T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9697A>G	13.37:g.23908318T>C	ENSP00000371729:p.Lys3233Glu					SACS_ENST00000382292.3_Missense_Mutation_p.K3233E|SACS_ENST00000402364.1_Missense_Mutation_p.K2483E	p.K3233E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	10285	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3233					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9697A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357195	0.24598	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86865	-2.03;-2.18;-2.03	5.31	4.16	0.48862	.	0.107627	0.64402	D	0.000009	T	0.75064	0.3799	N	0.11560	0.145	0.29872	N	0.826723	B	0.18741	0.03	B	0.18561	0.022	T	0.69117	-0.5230	10	0.46703	T	0.11	.	11.4549	0.50176	0.0:0.0:0.325:0.6749	.	3233	Q9NZJ4	SACS_HUMAN	E	3233;2483;3233	ENSP00000371729:K3233E;ENSP00000385844:K2483E;ENSP00000371735:K3233E	ENSP00000371729:K3233E	K	-	1	0	SACS	22806318	1.000000	0.71417	0.657000	0.29651	0.694000	0.40290	4.258000	0.58822	0.974000	0.38366	0.454000	0.30748	AAG		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	40	0	0	0	1	0	22	40				
MYO7B	4648	broad.mit.edu	37	2	128350403	128350403	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:128350403G>A	ENST00000409816.2	+	16	2059	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	MYO7B_ENST00000389524.4_Missense_Mutation_p.R676Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R676Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	676	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGGCAGCTGCGATACTCGGGC	0.667																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2026-2028)cGa>cAa		myosin VIIB							21.0	30.0	27.0					2																	128350403		2058	4186	6244	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350403G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2027G>A	2.37:g.128350403G>A	ENSP00000386461:p.Arg676Gln					MYO7B_ENST00000409816.2_Missense_Mutation_p.R676Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R676Q	p.R676Q			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2080	+	Colorectal(110;0.1)		676			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2027G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355052	0.95854	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87412	-2.25;-2.25;-2.25	4.93	4.05	0.47172	Myosin head, motor domain (2);	0.064020	0.64402	D	0.000005	D	0.87422	0.6173	M	0.80616	2.505	0.58432	D	0.999997	D	0.54047	0.964	P	0.44897	0.463	D	0.87519	0.2445	10	0.66056	D	0.02	.	9.6805	0.40067	0.1596:0.0:0.8404:0.0	.	676	Q6PIF6	MYO7B_HUMAN	Q	676	ENSP00000374175:R676Q;ENSP00000415090:R676Q;ENSP00000386461:R676Q	ENSP00000374175:R676Q	R	+	2	0	MYO7B	128066873	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	4.888000	0.63164	1.209000	0.43321	0.655000	0.94253	CGA		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	14	0	0	0	1	0	5	14				
CELSR3	1951	broad.mit.edu	37	3	48681080	48681081	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:48681080_48681081delCA	ENST00000164024.4	-	28	8475_8476	c.8195_8196delTG	c.(8194-8196)ctgfs	p.L2733fs	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Del_p.L2738fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2733					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTGACCAGCAGAAGCAGCAG	0.599																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8209-8211)cfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48681080_48681081delCA	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8195_8196delTG	3.37:g.48681080_48681081delCA	ENSP00000164024:p.Leu2733fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.L2733fs	p.L2738fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	8490_8491	-			2733					O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.8210_8211delTG	CCDS2775.1																																																																																				0.599	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		2	4						2	4	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127670459	127670459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:127670459delG	ENST00000508053.1	-	37	5025	c.4051delC	c.(4051-4053)cacfs	p.H1351fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.H1351fs|FBN2_ENST00000507835.1_Frame_Shift_Del_p.H201fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.H1318fs			P35556	FBN2_HUMAN	fibrillin 2	1351	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTGACAGTGGCAAATGAAG	0.398																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4051-4053)acfs		fibrillin 2							153.0	135.0	141.0					5																	127670459		2203	4300	6503	SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670459delG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4051delC	5.37:g.127670459delG	ENSP00000424571:p.His1351fs					FBN2_ENST00000507835.1_Frame_Shift_Del_p.H201fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.H1318fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.H1351fs	p.H1351fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5025	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1351			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.4051delC	CCDS34222.1																																																																																				0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	32						26	32	---	---	---	---
RP1-209A6.1	0	broad.mit.edu	37	6	22893502	22893502	+	lincRNA	DEL	A	A	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:22893502delA	ENST00000420572.2	-	0	197																											cgtctctactaaaaaaaaaaa	0.532																																						ENST00000420572.2																			0																																																			0							g.chr6:22893502delA																													6.37:g.22893502delA														0	197	-									RNA	DEL	ENST00000420572.2	37																																																																																						0.532	RP1-209A6.1-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000039995.2			2	4						2	4	---	---	---	---
HIST1H2BJ	8970	broad.mit.edu	37	6	27100294	27100295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:27100294_27100295insT	ENST00000607124.1	-	1	234_235	c.235_236insA	c.(235-237)tccfs	p.S79fs	HIST1H2BJ_ENST00000541790.1_Frame_Shift_Ins_p.S79fs|HIST1H2BJ_ENST00000339812.2_Frame_Shift_Ins_p.S79fs|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	79					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CGCCAGGCGGGAAGCCTCACCT	0.604																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(235-237)ccgfs		histone cluster 1, H2bj																																				SO:0001589	frameshift_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100294_27100295insT	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.235_236insA	6.37:g.27100294_27100295insT	ENSP00000476136:p.Ser79fs					HIST1H2BJ_ENST00000541790.1_Frame_Shift_Ins_p.P79fs|HIST1H2BJ_ENST00000339812.2_Frame_Shift_Ins_p.P79fs	p.P79fs			P06899	H2B1J_HUMAN			1	234_235	-			79					B2R4J4|O60816	Frame_Shift_Ins	INS	ENST00000607124.1	37	c.235_236insA	CCDS4618.1																																																																																				0.604	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		118	76						118	76	---	---	---	---
LOC101929268	101929268	broad.mit.edu	37	8	49538892	49538893	+	lincRNA	DEL	TG	TG	-	rs148524266	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:49538892_49538893delTG	ENST00000521660.1	+	0	578				RP11-770E5.1_ENST00000522575.1_RNA																							tgagtgtatctgtgtgtgATAG	0.45														324	0.0646965	0.0189	0.0764	5008	,	,		28710	0.0823		0.1243	False		,,,				2504	0.0389					ENST00000522575.1																			0																																																			0							g.chr8:49538892_49538893delTG																													8.37:g.49538898_49538899delTG														0	356	+									RNA	DEL	ENST00000521660.1	37																																																																																						0.450	RP11-770E5.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000377774.1			2	4						2	4	---	---	---	---
RP11-655H13.2	0	broad.mit.edu	37	10	110471242	110471243	+	lincRNA	INS	-	-	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr10:110471242_110471243insG	ENST00000421481.1	+	0	18																											gaaaacggcaagggggggatat	0.46																																						ENST00000421481.1																			0																																																			0							g.chr10:110471242_110471243insG																													10.37:g.110471249_110471249dupG														0	18	+									RNA	INS	ENST00000421481.1	37																																																																																						0.460	RP11-655H13.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000050244.1			2	4						2	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	4						3	4	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47491244	47491249	+	Splice_Site	DEL	AGGACT	AGGACT	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:47491244_47491249delAGGACT	ENST00000404338.3	+	3	3826_3830	c.3826_3830delAGGACT	c.(3826-3831)aggact>t	p.RT1276del		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.G1276V(4)|p.?(2)									GTTTCTCCTCAGGACTGAGCACGGAA	0.558																																						ENST00000404338.3																			6	Substitution - Missense(4)|Unknown(2)	p.G1276V(4)|p.?(2)	lung(4)|kidney(2)								c.e3-1		Rho GTPase activating protein 35																																				SO:0001630	splice_region_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47491244_47491249delAGGACT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3827-1AGGACT>-	19.37:g.47491244_47491249delAGGACT							p.1276_splice	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			3	3826_3830	+			1276			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Splice_Site	DEL	ENST00000404338.3	37	c.3826_splice	CCDS46127.1																																																																																				0.558	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	In_Frame_Del	14	9						14	9	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793490	28793491	+	lincRNA	DEL	TT	TT	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr21:28793490_28793491delTT	ENST00000420186.2	-	0	202																											tttttttttctttttttttttt	0.342																																						ENST00000420186.2																			0																																																			0							g.chr21:28793490_28793491delTT																													21.37:g.28793500_28793501delTT														0	202	-									RNA	DEL	ENST00000420186.2	37																																																																																						0.342	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			2	4						2	4	---	---	---	---
