#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
TTC37	9652	broad.mit.edu	37	5	94833132	94833132	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:94833132T>C	ENST00000358746.2	-	34	3922	c.3624A>G	c.(3622-3624)caA>caG	p.Q1208Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1208						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGCATTTCGTTGAGCATACT	0.368																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3622-3624)caA>caG		tetratricopeptide repeat domain 37							119.0	105.0	110.0					5																	94833132		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94833132T>C	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3624A>G	5.37:g.94833132T>C							p.Q1208Q	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			34	3922	-			1208					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.3624A>G	CCDS4072.1																																																																																				0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		11	22	0	0	0	1	0	11	22				
HIST1H3B	8358	broad.mit.edu	37	6	26032097	26032097	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:26032097C>T	ENST00000244661.2	-	1	191	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	64					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						ACGGCAGCTTCCGAATCAGCA	0.622																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(190-192)cgG>cgA		histone cluster 1, H3b							64.0	73.0	70.0					6																	26032097		2203	4300	6503	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032097C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.192G>A	6.37:g.26032097C>T							p.R64R	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	191	-			64					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.192G>A	CCDS4573.1																																																																																				0.622	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		15	111	0	0	0	1	0	15	111				
WDR17	116966	broad.mit.edu	37	4	177032852	177032852	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177032852C>A	ENST00000280190.4	+	3	349	c.193C>A	c.(193-195)Cag>Aag	p.Q65K	WDR17_ENST00000507824.2_Missense_Mutation_p.Q65K|WDR17_ENST00000393643.2_Missense_Mutation_p.Q41K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q41K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	65										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATATTTATCAGGTAAAATA	0.343																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(121-123)Cag>Aag		WD repeat domain 17							59.0	57.0	58.0					4																	177032852		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032852C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.193C>A	4.37:g.177032852C>A	ENSP00000280190:p.Gln65Lys					WDR17_ENST00000507824.2_Missense_Mutation_p.Q65K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q41K|WDR17_ENST00000280190.4_Missense_Mutation_p.Q65K	p.Q41K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	373	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	65					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.121C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854261	0.51270	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.57107	0.45;0.48;0.42	5.39	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.064493	0.64402	N	0.000005	T	0.40839	0.1133	N	0.24115	0.695	0.58432	D	0.999997	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.17992	-1.0351	10	0.45353	T	0.12	-4.7386	15.4815	0.75530	0.1399:0.8601:0.0:0.0	.	41;65;65	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	K	41;41;65;41;65	ENSP00000422763:Q41K;ENSP00000377258:Q41K;ENSP00000280190:Q65K	ENSP00000280190:Q65K	Q	+	1	0	WDR17	177269846	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	5.506000	0.66993	1.250000	0.43966	0.467000	0.42956	CAG		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	28	1	0	2.74318e-10	1	3.13506e-10	9	28				
CLEC4D	338339	broad.mit.edu	37	12	8673786	8673786	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:8673786A>G	ENST00000299665.2	+	6	760	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	189	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTATAACCAAGATAAATGGG	0.368																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(565-567)caA>caG		C-type lectin domain family 4, member D							130.0	125.0	127.0					12																	8673786		2203	4300	6503	SO:0001819	synonymous_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673786A>G	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.567A>G	12.37:g.8673786A>G							p.Q189Q	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			6	760	+	Lung SC(5;0.184)		189			C-type lectin.		Q8N5J5	Silent	SNP	ENST00000299665.2	37	c.567A>G	CCDS8593.1																																																																																				0.368	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		6	51	0	0	0	1	0	6	51				
SSX2IP	117178	broad.mit.edu	37	1	85135479	85135479	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:85135479T>A	ENST00000342203.3	-	4	574	c.311A>T	c.(310-312)aAt>aTt	p.N104I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.N77I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.N104I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.N77I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	104					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGCAGCTCATTCATACAATT	0.393																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(229-231)aAt>aTt		synovial sarcoma, X breakpoint 2 interacting protein							127.0	132.0	130.0					1																	85135479		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85135479T>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.311A>T	1.37:g.85135479T>A	ENSP00000340279:p.Asn104Ile					SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.N104I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.N77I|SSX2IP_ENST00000342203.3_Missense_Mutation_p.N104I	p.N77I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	582	-			104					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.230A>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247947	0.80024	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.44482	0.92;0.93	5.24	5.24	0.73138	.	0.154005	0.64402	D	0.000019	T	0.26376	0.0644	L	0.40543	1.245	0.48185	D	0.9996	P;P;P	0.43633	0.813;0.754;0.754	B;P;P	0.44359	0.252;0.447;0.447	T	0.03034	-1.1080	10	0.25751	T	0.34	.	15.1285	0.72500	0.0:0.0:0.0:1.0	.	100;104;77	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	104;77;100;104;104	ENSP00000340279:N104I;ENSP00000412781:N77I	ENSP00000340279:N104I	N	-	2	0	SSX2IP	84908067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	1.984000	0.57885	0.533000	0.62120	AAT		0.393	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		14	82	0	0	0	1	0	14	82				
KIF21B	23046	broad.mit.edu	37	1	200978027	200978027	+	Missense_Mutation	SNP	G	G	A	rs140589352	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:200978027G>A	ENST00000422435.2	-	3	633	c.317C>T	c.(316-318)tCg>tTg	p.S106L	KIF21B_ENST00000461742.2_Missense_Mutation_p.S106L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S106L|KIF21B_ENST00000332129.2_Missense_Mutation_p.S106L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCTCCGACGTTGCCAT	0.642													G|||	42	0.00838658	0.0	0.013	5008	,	,		20340	0.0		0.0179	False		,,,				2504	0.0153					ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(316-318)tCg>tTg		kinesin family member 21B		G	LEU/SER	13,4393	20.2+/-43.8	0,13,2190	118.0	103.0	108.0		317	4.7	0.0	1	dbSNP_134	108	193,8407	85.0+/-147.5	3,187,4110	yes	missense	KIF21B	NM_017596.2	145	3,200,6300	AA,AG,GG		2.2442,0.2951,1.5839	benign	106/1625	200978027	206,12800	2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978027G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.317C>T	1.37:g.200978027G>A	ENSP00000411831:p.Ser106Leu					KIF21B_ENST00000422435.2_Missense_Mutation_p.S106L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S106L|KIF21B_ENST00000461742.2_Missense_Mutation_p.S106L	p.S106L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			3	633	-			106			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.317C>T	CCDS58056.1	19	0.0086996336996337	0	0.0	4	0.011049723756906077	0	0.0	15	0.01978891820580475	G	10.10	1.257053	0.22965	0.002951	0.022442	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.57	4.66	0.58398	Kinesin, motor domain (4);	0.322422	0.29073	N	0.013235	T	0.52208	0.1720	M	0.68952	2.095	0.09310	N	0.999999	P;P;B;P	0.42248	0.774;0.774;0.0;0.733	B;B;B;B	0.31869	0.094;0.137;0.002;0.131	T	0.55296	-0.8163	10	0.27082	T	0.32	.	14.3505	0.66699	0.0714:0.0:0.9286:0.0	.	106;106;106;106	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	106	ENSP00000328494:S106L;ENSP00000353724:S106L;ENSP00000433808:S106L;ENSP00000411831:S106L	ENSP00000328494:S106L	S	-	2	0	KIF21B	199244650	0.791000	0.28800	0.014000	0.15608	0.324000	0.28378	4.731000	0.62022	1.348000	0.45733	0.650000	0.86243	TCG		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		6	101	0	0	0	1	0	6	101				
CYP2A13	1553	broad.mit.edu	37	19	41594866	41594866	+	Silent	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:41594866T>A	ENST00000330436.3	+	2	213	c.213T>A	c.(211-213)atT>atA	p.I71I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	71					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TGTTCACCATTCACTTGGGGC	0.632																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(211-213)atT>atA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						92.0	86.0	88.0					19																	41594866		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594866T>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.213T>A	19.37:g.41594866T>A							p.I71I	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	213	+			71					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.213T>A	CCDS12571.1																																																																																				0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		32	33	0	0	0	1	0	32	33				
NPAS4	266743	broad.mit.edu	37	11	66191788	66191788	+	Missense_Mutation	SNP	C	C	G	rs200716874	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66191788C>G	ENST00000311034.2	+	7	1603	c.1427C>G	c.(1426-1428)aCc>aGc	p.T476S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	476					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCAGTGCAACCTTCCCAGAT	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1426-1428)aCc>aGc		neuronal PAS domain protein 4							225.0	218.0	220.0					11																	66191788		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191788C>G	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1427C>G	11.37:g.66191788C>G	ENSP00000311196:p.Thr476Ser						p.T476S	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1603	+			476					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1427C>G	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267044	0.59540	.	.	ENSG00000174576	ENST00000311034	T	0.41758	0.99	4.51	4.51	0.55191	.	0.238676	0.29830	N	0.011096	T	0.22742	0.0549	N	0.14661	0.345	0.42293	D	0.992142	B	0.25235	0.121	B	0.20384	0.029	T	0.07028	-1.0794	10	0.07813	T	0.8	-12.6081	12.5869	0.56423	0.0:1.0:0.0:0.0	.	476	Q8IUM7	NPAS4_HUMAN	S	476	ENSP00000311196:T476S	ENSP00000311196:T476S	T	+	2	0	NPAS4	65948364	0.996000	0.38824	0.997000	0.53966	0.991000	0.79684	2.548000	0.45794	2.348000	0.79779	0.563000	0.77884	ACC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		50	302	0	0	0	1	0	50	302				
COL6A3	1293	broad.mit.edu	37	2	238253474	238253474	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:238253474C>A	ENST00000295550.4	-	36	7639	c.7187G>T	c.(7186-7188)tGc>tTc	p.C2396F	COL6A3_ENST00000409809.1_Missense_Mutation_p.C2190F|COL6A3_ENST00000472056.1_Missense_Mutation_p.C1789F|COL6A3_ENST00000353578.4_Missense_Mutation_p.C2190F|COL6A3_ENST00000346358.4_Missense_Mutation_p.C2196F|COL6A3_ENST00000347401.3_Missense_Mutation_p.C2195F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2396	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAGACGGGGCACTCCAGGGG	0.498																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7186-7188)tGc>tTc		collagen, type VI, alpha 3							72.0	80.0	77.0					2																	238253474		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253474C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7187G>T	2.37:g.238253474C>A	ENSP00000295550:p.Cys2396Phe					COL6A3_ENST00000346358.4_Missense_Mutation_p.C2196F|COL6A3_ENST00000472056.1_Missense_Mutation_p.C1789F|COL6A3_ENST00000353578.4_Missense_Mutation_p.C2190F|COL6A3_ENST00000409809.1_Missense_Mutation_p.C2190F|COL6A3_ENST00000347401.3_Missense_Mutation_p.C2195F	p.C2396F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7639	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2396			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7187G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829370	0.16749	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000011	D	0.96926	0.8996	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.91635	0.998;0.997;0.999;0.99	D	0.97510	1.0066	10	0.72032	D	0.01	.	18.4964	0.90866	0.0:1.0:0.0:0.0	.	1789;1789;2190;2396	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	F	2396;2195;2190;1789;2190;2196	ENSP00000295550:C2396F;ENSP00000315609:C2195F;ENSP00000315873:C2190F;ENSP00000418285:C1789F;ENSP00000386844:C2190F;ENSP00000295546:C2196F	ENSP00000295550:C2396F	C	-	2	0	COL6A3	237918213	1.000000	0.71417	0.949000	0.38748	0.032000	0.12392	7.674000	0.83992	2.358000	0.79984	0.561000	0.74099	TGC		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		29	60	1	0	1.16021e-09	1	1.29238e-09	29	60				
SBNO2	22904	broad.mit.edu	37	19	1112834	1112834	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:1112834A>G	ENST00000361757.3	-	20	2599	c.2362T>C	c.(2362-2364)Ttc>Ctc	p.F788L	SBNO2_ENST00000438103.2_Missense_Mutation_p.F731L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F778L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	788					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTCATGAAGCGCTGCTTC	0.701																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2362-2364)Ttc>Ctc		strawberry notch homolog 2 (Drosophila)							16.0	19.0	18.0					19																	1112834		2123	4217	6340	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112834A>G	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2362T>C	19.37:g.1112834A>G	ENSP00000354733:p.Phe788Leu					SBNO2_ENST00000587024.1_Missense_Mutation_p.F778L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F731L	p.F788L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2599	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	788					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2362T>C	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	A	33	5.275761	0.95459	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.88664	-2.41;-2.41	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	H	0.95679	3.705	0.49051	D	0.999746	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	D	0.96676	0.9500	10	0.87932	D	0	-36.229	12.8555	0.57882	1.0:0.0:0.0:0.0	.	788;731	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	788;731;795	ENSP00000354733:F788L;ENSP00000400762:F731L	ENSP00000250872:F795L	F	-	1	0	SBNO2	1063834	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.065000	0.93941	1.632000	0.50472	0.368000	0.22195	TTC		0.701	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		2	3	0	0	0	1	0	2	3				
THBS4	7060	broad.mit.edu	37	5	79372811	79372811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372811G>A	ENST00000350881.2	+	16	2216	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V585M|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	676					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCAGACCTGGTGCCCCCTGG	0.587																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2026-2028)Gtg>Atg		thrombospondin 4							155.0	159.0	157.0					5																	79372811		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372811G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2026G>A	5.37:g.79372811G>A	ENSP00000339730:p.Val676Met					THBS4_ENST00000511733.1_Missense_Mutation_p.V585M|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	p.V676M	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2216	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	676					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2026G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942710	0.34283	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98400	-4.91;-4.91	5.22	1.0	0.19881	.	0.346769	0.30723	N	0.009005	D	0.95056	0.8399	L	0.46157	1.445	0.20307	N	0.999915	B	0.31077	0.307	B	0.21151	0.033	D	0.89235	0.3580	10	0.52906	T	0.07	-3.7386	9.9673	0.41732	0.0662:0.0:0.3974:0.5363	.	676	P35443	TSP4_HUMAN	M	676;585	ENSP00000339730:V676M;ENSP00000422298:V585M	ENSP00000339730:V676M	V	+	1	0	THBS4	79408567	0.000000	0.05858	0.786000	0.31890	0.998000	0.95712	-0.808000	0.04515	0.039000	0.15632	0.650000	0.86243	GTG		0.587	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			66	154	0	0	0	1	0	66	154				
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr21:10969096C>A	ENST00000361285.4	-	7	481	c.152G>T	c.(151-153)cGg>cTg	p.R51L	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(151-153)cGg>cTg		transmembrane phosphatase with tensin homology							234.0	220.0	225.0					21																	10969096		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969096C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>T	21.37:g.10969096C>A	ENSP00000355208:p.Arg51Leu					TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	p.R51L	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	481	-			51					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.152G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.670569	0.00758	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94457	-3.43	0.558	-1.12	0.09808	.	0.602094	0.13783	N	0.363084	T	0.77980	0.4212	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62483	-0.6845	9	0.36615	T	0.2	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	L	51;33	ENSP00000355208:R51L	ENSP00000399471:R33L	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG		0.453	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			11	143	1	0	6.81908e-15	1	8.05475e-15	11	143				
MAP9	79884	broad.mit.edu	37	4	156294557	156294557	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156294557T>C	ENST00000311277.4	-	4	475	c.212A>G	c.(211-213)aAa>aGa	p.K71R	MAP9_ENST00000515654.1_Missense_Mutation_p.K71R|MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	71					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		ATTCATTTTTTTATTAACTGA	0.254																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(211-213)aAa>aGa		microtubule-associated protein 9							33.0	34.0	34.0					4																	156294557		2195	4295	6490	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156294557T>C	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.212A>G	4.37:g.156294557T>C	ENSP00000310593:p.Lys71Arg					MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K71R	p.K71R	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	4	475	-	all_hematologic(180;0.24)	Renal(120;0.0458)	71					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.212A>G	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752694	0.69533	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.10192	2.9;2.9;2.9	5.96	4.79	0.61399	.	0.236667	0.38164	N	0.001800	T	0.17789	0.0427	M	0.71581	2.175	0.80722	D	1	P;P;P	0.49559	0.617;0.925;0.925	B;P;P	0.47162	0.399;0.54;0.54	T	0.00901	-1.1521	10	0.59425	D	0.04	-26.768	8.8196	0.35018	0.0:0.0843:0.0:0.9157	.	71;71;71	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	R	71	ENSP00000310593:K71R;ENSP00000427402:K71R;ENSP00000394048:K71R	ENSP00000310593:K71R	K	-	2	0	MAP9	156514007	1.000000	0.71417	0.992000	0.48379	0.720000	0.41350	3.636000	0.54317	1.086000	0.41228	0.528000	0.53228	AAA		0.254	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		8	13	0	0	0	1	0	8	13				
KRTAP5-1	387264	broad.mit.edu	37	11	1605717	1605717	+	Nonsense_Mutation	SNP	G	G	A	rs148201859		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1605717G>A	ENST00000382171.2	-	1	796	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	255	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCTGGATTGGCAACAGGAT	0.592																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(763-765)Caa>Taa		keratin associated protein 5-1							143.0	139.0	140.0					11																	1605717		2202	4299	6501	SO:0001587	stop_gained	387264					keratin filament		g.chr11:1605717G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.763C>T	11.37:g.1605717G>A	ENSP00000371606:p.Gln255*					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.Q255*	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	796	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	255			8 X 4 AA repeats of C-C-X-P.			Nonsense_Mutation	SNP	ENST00000382171.2	37	c.763C>T	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251078	0.22880	.	.	ENSG00000205869	ENST00000382171	.	.	.	3.43	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.28312	N	0.922645	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.8067	0.13323	0.1279:0.2258:0.6464:0.0	.	.	.	.	X	255	.	ENSP00000371606:Q255X	Q	-	1	0	KRTAP5-1	1562293	0.002000	0.14202	0.193000	0.23327	0.077000	0.17291	0.730000	0.26043	0.403000	0.25479	0.430000	0.28490	CAA		0.592	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		50	158	0	0	0	1	0	50	158				
EME2	197342	broad.mit.edu	37	16	1825247	1825247	+	Intron	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:1825247C>G	ENST00000568449.1	+	5	590				EME2_ENST00000307394.7_Silent_p.L211L|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGGTGGGCTCTGGCAGAGGC	0.672								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(631-633)ctC>ctG	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							38.0	45.0	43.0					16																	1825247		2195	4297	6492	SO:0001627	intron_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825247C>G	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.570-69C>G	16.37:g.1825247C>G						EME2_ENST00000568449.1_Intron	p.L211L			A4GXA9	EME2_HUMAN			5	633	+			190					Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	c.633C>G	CCDS58404.1																																																																																				0.672	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	43	0	0	0	1	0	7	43				
ARHGAP31	57514	broad.mit.edu	37	3	119133117	119133117	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:119133117C>A	ENST00000264245.4	+	12	2873	c.2341C>A	c.(2341-2343)Ctc>Atc	p.L781I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	781	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTCTCCTCCACTCCCACCTGC	0.557																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2341-2343)Ctc>Atc		Rho GTPase activating protein 31							52.0	56.0	54.0					3																	119133117		1940	4139	6079	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133117C>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2341C>A	3.37:g.119133117C>A	ENSP00000264245:p.Leu781Ile						p.L781I	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2873	+			781			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2341C>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644928	0.29246	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08008	3.14	4.97	1.98	0.26296	.	0.283979	0.26026	N	0.026786	T	0.06600	0.0169	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32428	-0.9907	10	0.33141	T	0.24	.	10.0339	0.42118	0.1425:0.5811:0.2765:0.0	.	781	Q2M1Z3	RHG31_HUMAN	I	781	ENSP00000264245:L781I	ENSP00000264245:L781I	L	+	1	0	ARHGAP31	120615807	0.005000	0.15991	0.011000	0.14972	0.190000	0.23558	1.015000	0.29963	0.784000	0.33661	-0.150000	0.13652	CTC		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			48	72	1	0	3.86361e-14	1	4.5333e-14	48	72				
ZNF787	126208	broad.mit.edu	37	19	56600191	56600191	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:56600191G>A	ENST00000270459.3	-	3	468	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTCTCGCCCGTGTGGATGCG	0.682																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(349-351)aCg>aTg		zinc finger protein 787							22.0	24.0	23.0					19																	56600191		2203	4298	6501	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600191G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.350C>T	19.37:g.56600191G>A	ENSP00000270459:p.Thr117Met						p.T117M	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	468	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	117					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.350C>T	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795775	0.70452	.	.	ENSG00000142409	ENST00000270459	T	0.26373	1.74	3.46	3.46	0.39613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48059	0.1479	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.53322	-0.8455	9	0.87932	D	0	-23.0098	12.7958	0.57558	0.0:0.0:1.0:0.0	.	117	Q6DD87	ZN787_HUMAN	M	117	ENSP00000270459:T117M	ENSP00000270459:T117M	T	-	2	0	ZNF787	61292003	0.964000	0.33143	0.997000	0.53966	0.954000	0.61252	3.123000	0.50453	1.932000	0.55993	0.462000	0.41574	ACG		0.682	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		5	8	0	0	0	1	0	5	8				
EPHA7	2045	broad.mit.edu	37	6	93956664	93956664	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93956664G>A	ENST00000369303.4	-	15	2756	c.2572C>T	c.(2572-2574)Ccc>Tcc	p.P858S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGTCCATGGGTGCTGGTAAA	0.378																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2572-2574)Ccc>Tcc		EPH receptor A7							87.0	87.0	87.0					6																	93956664		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956664G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2572C>T	6.37:g.93956664G>A	ENSP00000358309:p.Pro858Ser						p.P858S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2756	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	858			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2572C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218476	0.95104	.	.	ENSG00000135333	ENST00000369303	D	0.86230	-2.09	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.988;1.0;1.0	D	0.94220	0.7466	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	854;853;858	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	S	858	ENSP00000358309:P858S	ENSP00000358309:P858S	P	-	1	0	EPHA7	94013385	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.751000	0.98889	2.838000	0.97847	0.591000	0.81541	CCC		0.378	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			16	28	0	0	0	1	0	16	28				
CRTAC1	55118	broad.mit.edu	37	10	99683126	99683126	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:99683126C>T	ENST00000370597.3	-	4	808	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CRTAC1_ENST00000298819.4_Silent_p.K151K|CRTAC1_ENST00000370591.2_Silent_p.K151K	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	151						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TATTGCGGAACTTGAACAACT	0.587																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(451-453)aaG>aaA		cartilage acidic protein 1							112.0	86.0	95.0					10																	99683126		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683126C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.453G>A	10.37:g.99683126C>T						CRTAC1_ENST00000370591.2_Silent_p.K151K|CRTAC1_ENST00000298819.4_Silent_p.K151K	p.K151K	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	4	808	-		Colorectal(252;0.24)	151					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.453G>A	CCDS31266.1																																																																																				0.587	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		11	46	0	0	0	1	0	11	46				
ARHGEF6	9459	broad.mit.edu	37	X	135750260	135750260	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:135750260C>T	ENST00000250617.6	-	22	3464	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	ARHGEF6_ENST00000535227.1_Silent_p.V626V|ARHGEF6_ENST00000370620.1_Silent_p.V599V|ARHGEF6_ENST00000370622.1_Silent_p.V599V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	753					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAAGCCTCCGCACCAGCTTTT	0.433																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(2257-2259)gtG>gtA		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							256.0	206.0	223.0					X																	135750260		2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135750260C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2259G>A	X.37:g.135750260C>T						ARHGEF6_ENST00000370620.1_Silent_p.V599V|ARHGEF6_ENST00000370622.1_Silent_p.V599V|ARHGEF6_ENST00000535227.1_Silent_p.V626V	p.V753V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			22	3464	-	Acute lymphoblastic leukemia(192;0.000127)		753					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.2259G>A	CCDS14660.1																																																																																				0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		52	18	0	0	0	1	0	52	18				
PPAT	5471	broad.mit.edu	37	4	57301515	57301515	+	Splice_Site	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:57301515C>A	ENST00000264220.2	-	1	266		c.e1+1		PAICS_ENST00000264221.2_5'Flank|PAICS_ENST00000399688.3_5'Flank|PAICS_ENST00000512576.1_5'Flank|PAICS_ENST00000514888.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase						'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CTGTTGCTCACCGGTGCTGCA	0.677																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.e1+1		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						53.0	55.0	55.0					4																	57301515		2203	4300	6503	SO:0001630	splice_region_variant	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57301515C>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.128+1G>T	4.37:g.57301515C>A								NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			1	266	-	Glioma(25;0.08)|all_neural(26;0.101)								Splice_Site	SNP	ENST00000264220.2	37		CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236691	0.79800	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8052	0.92034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPAT	56996272	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	6.966000	0.76073	2.676000	0.91093	0.561000	0.74099	.		0.677	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703	Intron	27	56	1	0	1.99505e-19	1	2.42158e-19	27	56				
MMP15	4324	broad.mit.edu	37	16	58076155	58076155	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:58076155C>T	ENST00000219271.3	+	7	1970	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	395					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TCTGGCGAGTCCGGCACAACC	0.657																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1183-1185)gtC>gtT		matrix metallopeptidase 15 (membrane-inserted)							59.0	56.0	57.0					16																	58076155		2198	4300	6498	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58076155C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1185C>T	16.37:g.58076155C>T							p.V395V	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			7	1970	+			395			Hemopexin-like 1.		A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.1185C>T	CCDS10792.1																																																																																				0.657	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		10	30	0	0	0	1	0	10	30				
LRIG2	9860	broad.mit.edu	37	1	113657172	113657172	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:113657172C>T	ENST00000361127.5	+	15	2402	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	735	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GATGATGGGCCTTTGCTGGTG	0.493																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2203-2205)cCt>cTt		leucine-rich repeats and immunoglobulin-like domains 2							121.0	109.0	113.0					1																	113657172		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657172C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2204C>T	1.37:g.113657172C>T	ENSP00000355396:p.Pro735Leu					LRIG2_ENST00000492207.1_3'UTR	p.P735L	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2402	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	735			Ig-like C2-type 3.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2204C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694568	0.88830	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.5	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111743	0.64402	D	0.000008	T	0.63212	0.2492	L	0.32530	0.975	0.80722	D	1	D	0.56287	0.975	D	0.65323	0.934	T	0.66948	-0.5794	10	0.46703	T	0.11	.	14.0348	0.64638	0.0:0.9274:0.0:0.0726	.	735	O94898	LRIG2_HUMAN	L	735	ENSP00000355396:P735L	ENSP00000355396:P735L	P	+	2	0	LRIG2	113458695	1.000000	0.71417	0.837000	0.33122	0.947000	0.59692	6.088000	0.71371	1.311000	0.45024	0.561000	0.74099	CCT		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		22	74	0	0	0	1	0	22	74				
LCLAT1	253558	broad.mit.edu	37	2	30756078	30756078	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:30756078A>G	ENST00000309052.4	+	4	585	c.376A>G	c.(376-378)Aga>Gga	p.R126G	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R88G|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R88G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R126G|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R126G|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	126					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCATCGGACAAGAATGGACTG	0.418																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(376-378)Aga>Gga		lysocardiolipin acyltransferase 1							213.0	203.0	207.0					2																	30756078		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30756078A>G	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.376A>G	2.37:g.30756078A>G	ENSP00000310551:p.Arg126Gly					LCLAT1_ENST00000379509.3_Missense_Mutation_p.R88G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R126G|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R88G|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R126G|LCLAT1_ENST00000491680.2_3'UTR	p.R126G	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			4	585	+			126					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.376A>G	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084725	0.55861	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.41	4.24	0.50183	Phospholipid/glycerol acyltransferase (2);	0.145185	0.64402	D	0.000012	D	0.96256	0.8779	M	0.82193	2.58	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.83275	0.974;0.996	D	0.95042	0.8179	10	0.33940	T	0.23	-13.5785	12.412	0.55471	0.5663:0.4337:0.0:0.0	.	126;126	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	G	88;88;88;88;126;88;88;126;126;88;88;126;88	ENSP00000419966:R88G;ENSP00000420481:R88G;ENSP00000368823:R88G;ENSP00000368826:R126G;ENSP00000417951:R88G;ENSP00000417565:R88G;ENSP00000310551:R126G;ENSP00000352406:R126G;ENSP00000442857:R88G;ENSP00000419646:R88G;ENSP00000417875:R126G;ENSP00000419444:R88G	ENSP00000310551:R126G	R	+	1	2	LCLAT1	30609582	1.000000	0.71417	0.814000	0.32528	0.280000	0.26924	4.310000	0.59141	0.959000	0.37980	0.528000	0.53228	AGA		0.418	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		75	135	0	0	0	1	0	75	135				
PRAMEF18	391003	broad.mit.edu	37	1	13475069	13475069	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:13475069G>C	ENST00000376126.2	-	3	1059	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAAGAAGAGGGTCTGAAGA	0.547																																						ENST00000376126.2																			0				lung(2)|ovary(1)	3						c.(1060-1062)Ctc>Gtc		PRAME family member 18							74.0	83.0	80.0					1																	13475069		2201	4294	6495	SO:0001583	missense	391003							g.chr1:13475069G>C			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1060C>G	1.37:g.13475069G>C	ENSP00000365294:p.Leu354Val						p.L354V	NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1059	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	354						Missense_Mutation	SNP	ENST00000376126.2	37	c.1060C>G	CCDS41258.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605591	0.46527	.	.	ENSG00000204491	ENST00000376126	T	0.79653	-1.29	1.66	1.66	0.24008	.	0.177660	0.37012	N	0.002298	D	0.88078	0.6340	M	0.87547	2.89	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76597	-0.2901	10	0.62326	D	0.03	.	6.7643	0.23558	0.0:0.0:1.0:0.0	.	354	Q5VWM3	PRA18_HUMAN	V	354	ENSP00000365294:L354V	ENSP00000365294:L354V	L	-	1	0	PRAMEF18	13347656	0.095000	0.21747	0.009000	0.14445	0.687000	0.40016	2.302000	0.43637	1.222000	0.43521	0.195000	0.17529	CTC		0.547	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		78	197	0	0	0	1	0	78	197				
CMTR1	23070	broad.mit.edu	37	6	37427342	37427342	+	Splice_Site	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:37427342G>A	ENST00000373451.4	+	10	1141	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	326	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ATTCTGACAGGTGAGGGTGGG	0.502																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.e10-1									184.0	163.0	170.0					6																	37427342		2203	4300	6503	SO:0001630	splice_region_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37427342G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.977-1G>A	6.37:g.37427342G>A							p.G326_splice	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			10	1141	+			326					A8K949|Q14670|Q96FJ9	Splice_Site	SNP	ENST00000373451.4	37	c.976_splice	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238519	0.95240	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.34859	1.34;1.34	5.81	5.81	0.92471	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.46414	-0.9193	9	.	.	.	.	19.0707	0.93134	0.0:0.0:1.0:0.0	.	270;326	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	D	326;270;270	ENSP00000362550:G326D;ENSP00000414233:G270D	.	G	+	2	0	FTSJD2	37535320	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GGT		0.502	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	Missense_Mutation	39	57	0	0	0	1	0	39	57				
NBEA	26960	broad.mit.edu	37	13	35630239	35630239	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:35630239T>C	ENST00000400445.3	+	7	1599	c.1065T>C	c.(1063-1065)gaT>gaC	p.D355D	NBEA_ENST00000379939.2_Silent_p.D355D|NBEA_ENST00000540320.1_Silent_p.D355D|NBEA_ENST00000310336.4_Silent_p.D355D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	355					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTATGGTGATATGGCTTGGC	0.323																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1063-1065)gaT>gaC		neurobeachin							153.0	150.0	151.0					13																	35630239		1871	4101	5972	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35630239T>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1065T>C	13.37:g.35630239T>C						NBEA_ENST00000310336.4_Silent_p.D355D|NBEA_ENST00000540320.1_Silent_p.D355D|NBEA_ENST00000379939.2_Silent_p.D355D	p.D355D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1599	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	355					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.1065T>C	CCDS45026.1																																																																																				0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	44	0	0	0	1	0	5	44				
PTCHD3P1	387647	broad.mit.edu	37	10	29704286	29704286	+	RNA	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:29704286C>G	ENST00000427063.2	+	0	88				PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000609413.1_RNA|PTCHD3P1_ENST00000608994.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000537908.1_RNA	NR_003930.1				patched domain containing 3 pseudogene 1																		TCTCTTTCAGCCTGCTCTTGA	0.308																																						ENST00000427063.2																			0																																																			387647							g.chr10:29704286C>G			10p11.23	2014-08-07			ENSG00000274985	ENSG00000224597			44945	pseudogene	pseudogene							Standard	NG_034006		Approved		uc001iuq.2		OTTHUMG00000187781		10.37:g.29704286C>G						PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000537908.1_RNA		NR_003930.1						0	88	+									RNA	SNP	ENST00000427063.2	37																																																																																						0.308	PTCHD3P1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000047385.1	NG_034006		12	33	0	0	0	1	0	12	33				
TSHB	7252	broad.mit.edu	37	1	115576008	115576008	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:115576008A>G	ENST00000369517.1	+	1	25	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	TSHB_ENST00000256592.1_Missense_Mutation_p.M9V			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	9					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCTGATGTCCATGCTTTTTGG	0.368																																						ENST00000256592.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(25-27)Atg>Gtg		thyroid stimulating hormone, beta							171.0	144.0	153.0					1																	115576008		2203	4300	6503	SO:0001583	missense	7252				anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	g.chr1:115576008A>G	BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.25A>G	1.37:g.115576008A>G	ENSP00000358530:p.Met9Val					TSHB_ENST00000369517.1_Missense_Mutation_p.M9V	p.M9V	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	2	93	+	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	9					B1AKP0|Q16163	Missense_Mutation	SNP	ENST00000369517.1	37	c.25A>G	CCDS880.1	.	.	.	.	.	.	.	.	.	.	A	1.920	-0.448642	0.04572	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	T;T	0.57436	0.4;0.4	5.96	-7.96	0.01144	.	1.059850	0.07193	N	0.856090	T	0.10078	0.0247	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	10	0.21014	T	0.42	-2.7653	4.0532	0.09804	0.1516:0.2509:0.4281:0.1695	.	9	P01222	TSHB_HUMAN	V	9	ENSP00000256592:M9V;ENSP00000358530:M9V	ENSP00000256592:M9V	M	+	1	0	TSHB	115377531	0.000000	0.05858	0.120000	0.21714	0.028000	0.11728	-1.355000	0.02612	-1.012000	0.03387	-0.261000	0.10672	ATG		0.368	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549		24	52	0	0	0	1	0	24	52				
S100A7A	338324	broad.mit.edu	37	1	153391748	153391748	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:153391748G>T	ENST00000368729.4	+	3	326	c.269G>T	c.(268-270)aGc>aTc	p.S90I	S100A7A_ENST00000368728.2_Missense_Mutation_p.S90I|S100A7A_ENST00000329256.2_Missense_Mutation_p.S90I	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	90						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAGCAGAGCCATGGAGCG	0.527																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(268-270)aGc>aTc		S100 calcium binding protein A7A							70.0	67.0	68.0					1																	153391748		2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153391748G>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.269G>T	1.37:g.153391748G>T	ENSP00000357718:p.Ser90Ile					S100A7A_ENST00000368728.2_Missense_Mutation_p.S90I|S100A7A_ENST00000329256.2_Missense_Mutation_p.S90I	p.S90I	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	326	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		90					D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.269G>T	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317938	0.23994	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.06142	3.34;3.34;3.34	1.72	-0.677	0.11357	EF-hand-like domain (1);	.	.	.	.	T	0.02494	0.0076	L	0.39085	1.19	0.09310	N	1	D	0.59357	0.985	P	0.49252	0.604	T	0.43877	-0.9364	9	0.34782	T	0.22	.	7.0688	0.25167	0.0:0.5634:0.4366:0.0	.	90	Q86SG5	S1A7A_HUMAN	I	90	ENSP00000357718:S90I;ENSP00000357717:S90I;ENSP00000329008:S90I	ENSP00000329008:S90I	S	+	2	0	S100A7A	151658372	0.007000	0.16637	0.001000	0.08648	0.011000	0.07611	0.113000	0.15499	-0.174000	0.10743	0.591000	0.81541	AGC		0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		8	51	1	0	0.000274275	1	0.000282295	8	51				
SPHKAP	80309	broad.mit.edu	37	2	228890246	228890246	+	Splice_Site	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:228890246T>A	ENST00000392056.3	-	5	353		c.e5-2		SPHKAP_ENST00000344657.5_Splice_Site	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCAGTTTCTGTAAAGCAAG	0.343																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.e5-2		SPHK1 interactor, AKAP domain containing							90.0	88.0	89.0					2																	228890246		2203	4300	6503	SO:0001630	splice_region_variant	80309					cytoplasm	protein binding	g.chr2:228890246T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.307-2A>T	2.37:g.228890246T>A						SPHKAP_ENST00000344657.5_Splice_Site		NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	5	353	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)						Q68DA3|Q68DR8|Q9C0I5	Splice_Site	SNP	ENST00000392056.3	37		CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159973	0.57368	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPHKAP	228598490	1.000000	0.71417	0.969000	0.41365	0.433000	0.31745	6.930000	0.75858	2.371000	0.80710	0.533000	0.62120	.		0.343	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	Intron	19	50	0	0	0	1	0	19	50				
AKAP8L	26993	broad.mit.edu	37	19	15514303	15514303	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:15514303G>A	ENST00000397410.5	-	4	475	c.345C>T	c.(343-345)taC>taT	p.Y115Y	AKAP8L_ENST00000595465.2_Intron|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	115						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CACCTGAGCCGTACACGCCTC	0.577																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(343-345)taC>taT		A kinase (PRKA) anchor protein 8-like							100.0	104.0	103.0					19																	15514303		2113	4228	6341	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514303G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.345C>T	19.37:g.15514303G>A						AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron	p.Y115Y	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			4	409	-			115					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.345C>T	CCDS46005.1																																																																																				0.577	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		5	76	0	0	0	1	0	5	76				
BRAP	8315	broad.mit.edu	37	12	112110580	112110580	+	Splice_Site	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:112110580T>C	ENST00000327551.6	-	5	684		c.e5-2		BRAP_ENST00000539060.1_Intron|BRAP_ENST00000419234.4_Splice_Site			Q6UWU4	CF089_HUMAN	BRCA1 associated protein						epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCATCAGCCTATGTACACCA	0.383																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.e5-2		BRCA1 associated protein							69.0	62.0	65.0					12																	112110580		2203	4300	6503	SO:0001630	splice_region_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112110580T>C	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.544-2A>G	12.37:g.112110580T>C						BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Splice_Site		NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			5	827	-								B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Splice_Site	SNP	ENST00000327551.6	37			.	.	.	.	.	.	.	.	.	.	T	14.76	2.632007	0.46944	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5776	0.76404	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAP	110594963	1.000000	0.71417	0.809000	0.32408	0.402000	0.30811	5.809000	0.69172	2.094000	0.63399	0.454000	0.30748	.		0.383	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2		Intron	20	42	0	0	0	1	0	20	42				
BAI3	577	broad.mit.edu	37	6	70049284	70049284	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:70049284C>A	ENST00000370598.1	+	26	4168	c.3347C>A	c.(3346-3348)gCg>gAg	p.A1116E	BAI3_ENST00000546190.1_Missense_Mutation_p.A80E|BAI3_ENST00000238918.8_Missense_Mutation_p.A322E	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1116					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGATGTCTGCGGTTCTGGCC	0.443																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3346-3348)gCg>gAg		brain-specific angiogenesis inhibitor 3							299.0	272.0	281.0					6																	70049284		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049284C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3347C>A	6.37:g.70049284C>A	ENSP00000359630:p.Ala1116Glu					BAI3_ENST00000546190.1_Missense_Mutation_p.A80E|BAI3_ENST00000238918.8_Missense_Mutation_p.A322E	p.A1116E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			26	4168	+		all_lung(197;0.212)	1116					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3347C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605271	0.66445	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.48201	1.1;1.1;0.82	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.051198	0.85682	D	0.000000	T	0.72061	0.3414	M	0.88310	2.945	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.606	D;D;B	0.91635	0.999;0.998;0.242	T	0.76862	-0.2802	10	0.87932	D	0	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	322;1116;1116	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	E	1116;322;80	ENSP00000359630:A1116E;ENSP00000238918:A322E;ENSP00000441821:A80E	ENSP00000238918:A322E	A	+	2	0	BAI3	70106005	1.000000	0.71417	0.990000	0.47175	0.900000	0.52787	7.818000	0.86416	2.708000	0.92522	0.650000	0.86243	GCG		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			55	104	1	0	2.14255e-21	1	2.63698e-21	55	104				
SEMA3A	10371	broad.mit.edu	37	7	83640336	83640336	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:83640336A>G	ENST00000265362.4	-	9	1310		c.e9+1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAAGTTACTTACCTGGAAGTC	0.303																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.e9+1		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							53.0	57.0	56.0					7																	83640336		2202	4298	6500	SO:0001630	splice_region_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83640336A>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.995+1T>C	7.37:g.83640336A>G						SEMA3A_ENST00000436949.1_Splice_Site		NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			9	1310	-									Splice_Site	SNP	ENST00000265362.4	37		CCDS5599.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364547	0.82463	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4383	0.83889	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3A	83478272	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	8.948000	0.93006	2.287000	0.76781	0.482000	0.46254	.		0.303	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	Intron	12	37	0	0	0	1	0	12	37				
DMRT3	58524	broad.mit.edu	37	9	990875	990875	+	Missense_Mutation	SNP	C	C	T	rs566570084		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:990875C>T	ENST00000190165.2	+	2	1327	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	430					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCCCGCGCCACGGAAGACCCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19817	0.0		0.0	False		,,,				2504	0.001					ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1288-1290)aCg>aTg		doublesex and mab-3 related transcription factor 3							84.0	74.0	78.0					9																	990875		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990875C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1289C>T	9.37:g.990875C>T	ENSP00000190165:p.Thr430Met						p.T430M	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1327	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	430					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1289C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227851	0.22542	.	.	ENSG00000064218	ENST00000190165	T	0.24151	1.87	5.22	5.22	0.72569	.	0.660669	0.14887	N	0.292657	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.31547	0.132	T	0.21143	-1.0254	10	0.87932	D	0	-0.4979	18.7972	0.91999	0.0:1.0:0.0:0.0	.	430	Q9NQL9	DMRT3_HUMAN	M	430	ENSP00000190165:T430M	ENSP00000190165:T430M	T	+	2	0	DMRT3	980875	0.208000	0.23494	0.010000	0.14722	0.415000	0.31203	4.438000	0.59961	2.424000	0.82194	0.655000	0.94253	ACG		0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		17	26	0	0	0	1	0	17	26				
DPYD	1806	broad.mit.edu	37	1	98205982	98205982	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:98205982T>A	ENST00000370192.3	-	4	387	c.287A>T	c.(286-288)gAt>gTt	p.D96V	DPYD_ENST00000423006.2_Missense_Mutation_p.D59V|DPYD_ENST00000306031.5_Missense_Mutation_p.D96V	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	96	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGATTTAATATCAAGATTAGT	0.328																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(286-288)gAt>gTt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						164.0	167.0	166.0					1																	98205982		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98205982T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.287A>T	1.37:g.98205982T>A	ENSP00000359211:p.Asp96Val					DPYD_ENST00000423006.2_Missense_Mutation_p.D59V|DPYD_ENST00000306031.5_Missense_Mutation_p.D96V	p.D96V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	4	387	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	96			4Fe-4S ferredoxin-type 1.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.287A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921958	0.73213	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.82893	-1.66;-1.66;-1.66	5.69	4.53	0.55603	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.199734	0.51477	D	0.000083	D	0.91304	0.7258	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.92993	0.6416	10	0.87932	D	0	-15.1198	12.7466	0.57285	0.0:0.0:0.1372:0.8627	.	96;96	E9PFN1;Q12882	.;DPYD_HUMAN	V	96;59;96	ENSP00000359211:D96V;ENSP00000398884:D59V;ENSP00000307107:D96V	ENSP00000307107:D96V	D	-	2	0	DPYD	97978570	1.000000	0.71417	0.723000	0.30687	0.925000	0.55904	5.678000	0.68153	0.936000	0.37367	0.477000	0.44152	GAT		0.328	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		20	82	0	0	0	1	0	20	82				
DPEP2	64174	broad.mit.edu	37	16	68026031	68026031	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:68026031C>T	ENST00000572888.1	-	3	1106	c.456G>A	c.(454-456)caG>caA	p.Q152Q	DPEP2_ENST00000412757.2_Silent_p.Q152Q|DPEP2_ENST00000393847.1_Silent_p.Q152Q			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	152					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGAGGTCAATCTGCTCCAGGG	0.582																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(454-456)caG>caA		dipeptidase 2							120.0	112.0	115.0					16																	68026031		2198	4300	6498	SO:0001819	synonymous_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026031C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.456G>A	16.37:g.68026031C>T						DPEP2_ENST00000393847.1_Silent_p.Q152Q|DPEP2_ENST00000572888.1_Silent_p.Q152Q	p.Q152Q			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	5	1121	-		Ovarian(137;0.192)	152					B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	c.456G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915809	0.17907	.	.	ENSG00000167261	ENST00000268795	.	.	.	4.11	0.996	0.19844	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.80722	D	1	B	0.26483	0.15	B	0.23150	0.044	T	0.45175	-0.9279	7	0.87932	D	0	-16.1758	10.5039	0.44821	0.0:0.8522:0.0:0.1478	.	110	B4DNP7	.	K	110	.	ENSP00000268795:R110K	R	-	2	0	DPEP2	66583532	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	0.752000	0.26362	0.239000	0.21243	0.561000	0.74099	AGA		0.582	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		29	82	0	0	0	1	0	29	82				
FGFBP2	83888	broad.mit.edu	37	4	15964361	15964361	+	Missense_Mutation	SNP	G	G	A	rs376914503		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:15964361G>A	ENST00000259989.6	-	1	498	c.392C>T	c.(391-393)tCc>tTc	p.S131F	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	131						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGAGGCTGGAAGTCACCTG	0.647																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(391-393)tCc>tTc		fibroblast growth factor binding protein 2							61.0	57.0	58.0					4																	15964361		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964361G>A	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.392C>T	4.37:g.15964361G>A	ENSP00000259989:p.Ser131Phe					FGFBP2_ENST00000509331.1_Intron	p.S131F	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	498	-			131						Missense_Mutation	SNP	ENST00000259989.6	37	c.392C>T	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261599	0.59431	.	.	ENSG00000137441	ENST00000259989	T	0.16196	2.36	2.98	2.98	0.34508	.	0.262140	0.31312	U	0.007878	T	0.26593	0.0650	L	0.27053	0.805	0.41857	D	0.990207	D	0.89917	1.0	D	0.76575	0.988	T	0.04781	-1.0927	10	0.72032	D	0.01	-11.7498	12.0427	0.53462	0.0:0.0:1.0:0.0	.	131	Q9BYJ0	FGFP2_HUMAN	F	131	ENSP00000259989:S131F	ENSP00000259989:S131F	S	-	2	0	FGFBP2	15573459	1.000000	0.71417	0.339000	0.25562	0.750000	0.42670	4.239000	0.58694	1.175000	0.42826	0.650000	0.86243	TCC		0.647	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		26	64	0	0	0	1	0	26	64				
CRB2	286204	broad.mit.edu	37	9	126134519	126134519	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:126134519C>T	ENST00000373631.3	+	9	2501	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	CRB2_ENST00000373629.2_Missense_Mutation_p.P502S|CRB2_ENST00000359999.3_Missense_Mutation_p.P834S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	834	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGTACCTGCCCTGCCAATTT	0.622																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2500-2502)Cct>Tct		crumbs homolog 2 (Drosophila)							145.0	107.0	120.0					9																	126134519		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126134519C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2500C>T	9.37:g.126134519C>T	ENSP00000362734:p.Pro834Ser					CRB2_ENST00000359999.3_Missense_Mutation_p.P834S|CRB2_ENST00000373629.2_Missense_Mutation_p.P502S	p.P834S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			9	2501	+			834			EGF-like 11.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2500C>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	16.28	3.077959	0.55753	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.67345	-0.26;-0.26;-0.26	5.41	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.325936	0.22324	N	0.061547	T	0.64103	0.2568	M	0.67700	2.07	0.50171	D	0.999859	B;P	0.35628	0.414;0.513	B;B	0.33690	0.168;0.104	T	0.64546	-0.6382	10	0.42905	T	0.14	.	13.6634	0.62380	0.0:0.9245:0.0:0.0755	.	834;834	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	S	834;834;502	ENSP00000353092:P834S;ENSP00000362734:P834S;ENSP00000362732:P502S	ENSP00000353092:P834S	P	+	1	0	CRB2	125174340	0.799000	0.28903	1.000000	0.80357	0.994000	0.84299	0.472000	0.22116	1.246000	0.43901	0.561000	0.74099	CCT		0.622	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		23	50	0	0	0	1	0	23	50				
CEP192	55125	broad.mit.edu	37	18	13072783	13072783	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr18:13072783C>A	ENST00000325971.8	+	27	5183	c.3590C>A	c.(3589-3591)tCt>tAt	p.S1197Y	CEP192_ENST00000430049.2_Missense_Mutation_p.S1318Y|CEP192_ENST00000506447.1_Missense_Mutation_p.S1793Y			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1197					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATAATTCTGCATCTACA	0.343																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5377-5379)tCt>tAt		centrosomal protein 192kDa							119.0	112.0	115.0					18																	13072783		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13072783C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3590C>A	18.37:g.13072783C>A	ENSP00000317156:p.Ser1197Tyr					CEP192_ENST00000325971.8_Missense_Mutation_p.S1197Y|CEP192_ENST00000430049.2_Missense_Mutation_p.S1318Y	p.S1793Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			29	5458	+			1388					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.5378C>A		.	.	.	.	.	.	.	.	.	.	C	16.58	3.161835	0.57368	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.49720	0.77;0.77;0.77	5.73	2.93	0.34026	.	0.129247	0.53938	D	0.000048	T	0.60560	0.2278	M	0.68593	2.085	0.58432	D	0.999997	P;D;B	0.76494	0.717;0.999;0.433	B;D;B	0.68621	0.243;0.959;0.179	T	0.59337	-0.7473	10	0.87932	D	0	-15.7682	7.3444	0.26656	0.1153:0.582:0.2393:0.0633	.	1318;1793;395	C9JT09;E9PF99;Q9HCK3	.;.;.	Y	1793;1197;1197;1318	ENSP00000427550:S1793Y;ENSP00000317156:S1197Y;ENSP00000389190:S1318Y	ENSP00000317156:S1197Y	S	+	2	0	CEP192	13062783	0.877000	0.30153	0.924000	0.36721	0.436000	0.31835	2.318000	0.43779	0.415000	0.25817	0.655000	0.94253	TCT		0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		31	62	1	0	2.81731e-10	1	3.19901e-10	31	62				
GTF2A1L	11036	broad.mit.edu	37	2	48897056	48897056	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:48897056T>C	ENST00000403751.3	+	7	1211	c.1174T>C	c.(1174-1176)Tca>Cca	p.S392P	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S358P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1096P|LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1049P	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	392					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGACAGTATTTCAAATGAGGA	0.393																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(3286-3288)Tca>Cca									90.0	93.0	92.0					2																	48897056		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48897056T>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1174T>C	2.37:g.48897056T>C	ENSP00000384597:p.Ser392Pro					STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S358P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1049P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S392P	p.S1096P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	3400	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1049					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3286T>C	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848006	0.71603	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.5	5.5	0.81552	.	0.418605	0.22797	N	0.055534	T	0.69468	0.3114	M	0.77103	2.36	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.99;1.0;0.714;0.999	D;P;D;B;D	0.91635	0.997;0.676;0.999;0.179;0.998	T	0.73347	-0.4011	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	358;1049;1096;392;1096	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	P	1096;1096;1096;1096;1049;391;358;392;41	ENSP00000385499:S1096P;ENSP00000385701:S1096P;ENSP00000378236:S1096P;ENSP00000311493:S1096P;ENSP00000378234:S1049P;ENSP00000387896:S358P;ENSP00000384597:S392P;ENSP00000421474:S41P	ENSP00000384597:S392P	S	+	1	0	STON1-GTF2A1L;GTF2A1L	48750560	0.999000	0.42202	0.997000	0.53966	0.832000	0.47134	3.332000	0.52083	2.089000	0.63090	0.459000	0.35465	TCA		0.393	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		17	56	0	0	0	1	0	17	56				
GAK	2580	broad.mit.edu	37	4	906521	906521	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:906521A>G	ENST00000314167.4	-	3	378		c.e3+1		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAAAAGGATACCATGAAGCA	0.507																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e3+1		cyclin G associated kinase							155.0	141.0	145.0					4																	906521		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:906521A>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.267+1T>C	4.37:g.906521A>G						GAK_ENST00000511163.1_Intron		NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	3	378	-								Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37		CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983474	0.53827	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511229	.	.	.	4.41	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2871	0.31935	0.902:0.0:0.098:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAK	896521	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.528000	0.90598	0.659000	0.30945	0.455000	0.32223	.		0.507	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Intron	16	53	0	0	0	1	0	16	53				
KDM1A	23028	broad.mit.edu	37	1	23395150	23395150	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:23395150G>A	ENST00000356634.3	+	9	1375	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	KDM1A_ENST00000542151.1_Missense_Mutation_p.G433D|KDM1A_ENST00000400181.4_Missense_Mutation_p.G433D|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	409	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGTCCCTTGGCCAGGCATTG	0.368																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1297-1299)gGc>gAc		lysine (K)-specific demethylase 1A							90.0	76.0	81.0					1																	23395150		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23395150G>A	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1226G>A	1.37:g.23395150G>A	ENSP00000349049:p.Gly409Asp					KDM1A_ENST00000356634.3_Missense_Mutation_p.G409D|KDM1A_ENST00000542151.1_Missense_Mutation_p.G433D|RP1-184J9.2_ENST00000427154.1_RNA	p.G433D	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			11	1402	+			409			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1298G>A	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939072	0.73557	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92299	-3.01;-3.01;-3.01	5.82	5.82	0.92795	Amine oxidase (1);	0.316731	0.38720	N	0.001585	D	0.95736	0.8613	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95614	0.8675	10	0.72032	D	0.01	-16.0507	19.0835	0.93192	0.0:0.0:1.0:0.0	.	433;409	O60341-2;O60341	.;KDM1A_HUMAN	D	409;433;433	ENSP00000349049:G409D;ENSP00000383042:G433D;ENSP00000439072:G433D	ENSP00000349049:G409D	G	+	2	0	KDM1A	23267737	1.000000	0.71417	0.941000	0.38009	0.298000	0.27526	9.845000	0.99498	2.767000	0.95098	0.655000	0.94253	GGC		0.368	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		10	46	0	0	0	1	0	10	46				
NPY2R	4887	broad.mit.edu	37	4	156135310	156135310	+	Missense_Mutation	SNP	T	T	A	rs138139550		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:156135310T>A	ENST00000329476.3	+	2	708	c.219T>A	c.(217-219)caT>caA	p.H73Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.H73Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	73					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGGTGATCCATGTGGTGATCA	0.438																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(217-219)caT>caA		neuropeptide Y receptor Y2							160.0	153.0	155.0					4																	156135310		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135310T>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.219T>A	4.37:g.156135310T>A	ENSP00000332591:p.His73Gln					NPY2R_ENST00000506608.1_Missense_Mutation_p.H73Q	p.H73Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	708	+	all_hematologic(180;0.24)	Renal(120;0.0854)	73					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.219T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251314	0.59212	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37058	1.22;1.22	5.51	-8.16	0.01061	GPCR, rhodopsin-like superfamily (1);	0.114313	0.64402	D	0.000008	T	0.40094	0.1103	L	0.45352	1.415	0.37158	D	0.902466	D	0.57571	0.98	P	0.57468	0.821	T	0.61510	-0.7048	10	0.66056	D	0.02	.	17.5016	0.87733	0.0:0.597:0.0:0.403	.	73	P49146	NPY2R_HUMAN	Q	73	ENSP00000332591:H73Q;ENSP00000426366:H73Q	ENSP00000332591:H73Q	H	+	3	2	NPY2R	156354760	0.000000	0.05858	0.729000	0.30791	0.966000	0.64601	-2.827000	0.00746	-1.633000	0.01539	-1.147000	0.01851	CAT		0.438	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		5	38	0	0	0	1	0	5	38				
OR8H1	219469	broad.mit.edu	37	11	56057804	56057804	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:56057804C>G	ENST00000313022.2	-	1	762	c.735G>C	c.(733-735)ttG>ttC	p.L245F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGGTGACTCCCAAGAGATGAG	0.363																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(733-735)ttG>ttC		olfactory receptor, family 8, subfamily H, member 1							100.0	96.0	97.0					11																	56057804		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057804C>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.735G>C	11.37:g.56057804C>G	ENSP00000323595:p.Leu245Phe						p.L245F	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	762	-	Esophageal squamous(21;0.00448)		245					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.735G>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557690	0.13436	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.39229	1.09	3.86	0.457	0.16661	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000900	T	0.43033	0.1229	L	0.43923	1.385	0.09310	N	1	P	0.48764	0.915	P	0.55345	0.774	T	0.23084	-1.0198	10	0.62326	D	0.03	.	7.0398	0.25013	0.4813:0.2659:0.2528:0.0	.	245	Q8NGG4	OR8H1_HUMAN	F	245;241	ENSP00000323595:L245F	ENSP00000323595:L245F	L	-	3	2	OR8H1	55814380	0.000000	0.05858	0.012000	0.15200	0.000000	0.00434	-4.336000	0.00251	0.350000	0.24002	-0.196000	0.12772	TTG		0.363	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		32	72	0	0	0	1	0	32	72				
THAP3	90326	broad.mit.edu	37	1	6688666	6688666	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:6688666C>T	ENST00000054650.4	+	3	340	c.182C>T	c.(181-183)cCa>cTa	p.P61L	THAP3_ENST00000307896.6_Missense_Mutation_p.P61L|THAP3_ENST00000377627.3_Missense_Mutation_p.P61L	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	61							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACTTCCGGCCAGAGTGCTTC	0.607																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(181-183)cCa>cTa		THAP domain containing, apoptosis associated protein 3							68.0	56.0	60.0					1																	6688666		2203	4300	6503	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6688666C>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.182C>T	1.37:g.6688666C>T	ENSP00000054650:p.Pro61Leu					THAP3_ENST00000307896.6_Missense_Mutation_p.P61L|THAP3_ENST00000054650.4_Missense_Mutation_p.P61L	p.P61L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	209	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	61					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.182C>T	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730140	0.69074	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.96554	-4.05;-4.05;-4.05	5.01	5.01	0.66863	Zinc finger, C2CH-type (4);	0.000000	0.53938	D	0.000046	D	0.98043	0.9355	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98715	1.0706	10	0.72032	D	0.01	-8.5931	13.8015	0.63204	0.0:1.0:0.0:0.0	.	61;61;61	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	L	61	ENSP00000054650:P61L;ENSP00000311537:P61L;ENSP00000366854:P61L	ENSP00000054650:P61L	P	+	2	0	THAP3	6611253	0.985000	0.35326	0.408000	0.26446	0.371000	0.29859	3.856000	0.55964	2.319000	0.78375	0.484000	0.47621	CCA		0.607	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		7	37	0	0	0	1	0	7	37				
DNAJC6	9829	broad.mit.edu	37	1	65867547	65867547	+	Silent	SNP	C	C	A	rs190507629		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:65867547C>A	ENST00000395325.3	+	15	2197	c.2040C>A	c.(2038-2040)gcC>gcA	p.A680A	DNAJC6_ENST00000263441.7_Silent_p.A667A|DNAJC6_ENST00000371069.4_Silent_p.A737A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	680	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCCTTTTGCCGACCTTGGGA	0.463																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(2038-2040)gcC>gcA		DnaJ (Hsp40) homolog, subfamily C, member 6							90.0	89.0	90.0					1																	65867547		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65867547C>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2040C>A	1.37:g.65867547C>A						DNAJC6_ENST00000371069.4_Silent_p.A737A|DNAJC6_ENST00000263441.7_Silent_p.A667A	p.A680A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			15	2197	+			680			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.2040C>A	CCDS30739.1																																																																																				0.463	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			17	41	1	0	6.49762e-13	1	7.52356e-13	17	41				
ATF4P4	100127952	broad.mit.edu	37	11	113661092	113661092	+	RNA	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:113661092C>T	ENST00000393544.2	+	0	1140									activating transcription factor 4 pseudogene 4																		GACTTGATGTCCCCCTTCGAC	0.527																																						ENST00000393544.2																			0																																																			100127952							g.chr11:113661092C>T			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661092C>T														0	1140	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.527	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		12	67	0	0	0	1	0	12	67				
ARFIP1	27236	broad.mit.edu	37	4	153784811	153784811	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:153784811A>G	ENST00000451320.2	+	3	311	c.147A>G	c.(145-147)acA>acG	p.T49T	ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Silent_p.T49T|ARFIP1_ENST00000405727.2_Silent_p.T49T|ARFIP1_ENST00000353617.2_Silent_p.T49T|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	49					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CCCAAATTACATCTCATGGCT	0.373																																						ENST00000451320.2																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(145-147)acA>acG		ADP-ribosylation factor interacting protein 1							100.0	95.0	96.0					4																	153784811		2203	4300	6503	SO:0001819	synonymous_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153784811A>G	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.147A>G	4.37:g.153784811A>G						ARFIP1_ENST00000356064.3_Silent_p.T49T|ARFIP1_ENST00000405727.2_Silent_p.T49T|ARFIP1_ENST00000353617.2_Silent_p.T49T|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron	p.T49T			P53367	ARFP1_HUMAN			3	311	+	all_hematologic(180;0.093)		49					Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	ENST00000451320.2	37	c.147A>G	CCDS34080.1																																																																																				0.373	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		23	47	0	0	0	1	0	23	47				
MYLK2	85366	broad.mit.edu	37	20	30418934	30418934	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:30418934A>C	ENST00000375994.2	+	9	1687	c.1414A>C	c.(1414-1416)Acc>Ccc	p.T472P	MYLK2_ENST00000375985.4_Missense_Mutation_p.T472P|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGGTGATCACCTACATGCT	0.567																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1414-1416)Acc>Ccc		myosin light chain kinase 2							96.0	98.0	98.0					20																	30418934		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418934A>C	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1414A>C	20.37:g.30418934A>C	ENSP00000365162:p.Thr472Pro					MYLK2_ENST00000375985.4_Missense_Mutation_p.T472P|MYLK2_ENST00000468730.1_3'UTR	p.T472P			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	1687	+			472			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1414A>C	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575355	0.65878	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.66280	-0.2;-0.2	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80974	0.4727	M	0.89785	3.06	0.51012	D	0.9999	D	0.76494	0.999	D	0.77557	0.99	D	0.84547	0.0642	9	0.66056	D	0.02	.	12.0531	0.53518	1.0:0.0:0.0:0.0	.	472	Q9H1R3	MYLK2_HUMAN	P	472	ENSP00000365162:T472P;ENSP00000365152:T472P	ENSP00000365152:T472P	T	+	1	0	MYLK2	29882595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.462000	0.53042	1.756000	0.51951	0.448000	0.29417	ACC		0.567	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		35	90	0	0	0	1	0	35	90				
TCN1	6947	broad.mit.edu	37	11	59629133	59629133	+	Silent	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:59629133C>A	ENST00000257264.3	-	4	527	c.423G>T	c.(421-423)ctG>ctT	p.L141L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	141	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAGTTAGTCAGGGGAGTGC	0.443																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(421-423)ctG>ctT		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95.0	91.0	93.0					11																	59629133		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629133C>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.423G>T	11.37:g.59629133C>A						TCN1_ENST00000532419.1_5'UTR	p.L141L	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			4	527	-		all_epithelial(135;0.198)	141					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.423G>T	CCDS7978.1																																																																																				0.443	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		30	72	1	0	1.16021e-09	1	1.29238e-09	30	72				
CHD9	80205	broad.mit.edu	37	16	53279691	53279691	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:53279691C>G	ENST00000398510.3	+	14	3470	c.3383C>G	c.(3382-3384)aCt>aGt	p.T1128S	CHD9_ENST00000564845.1_Missense_Mutation_p.T1128S|CHD9_ENST00000447540.1_Missense_Mutation_p.T1128S|CHD9_ENST00000566029.1_Missense_Mutation_p.T1128S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1128					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAGGACAAACTAATGTACCT	0.323																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3382-3384)aCt>aGt		chromodomain helicase DNA binding protein 9							59.0	58.0	59.0					16																	53279691		1825	4081	5906	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279691C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3383C>G	16.37:g.53279691C>G	ENSP00000381522:p.Thr1128Ser					CHD9_ENST00000398510.3_Missense_Mutation_p.T1128S|CHD9_ENST00000447540.1_Missense_Mutation_p.T1128S|CHD9_ENST00000564845.1_Missense_Mutation_p.T1128S	p.T1128S			Q3L8U1	CHD9_HUMAN			15	3592	+		all_cancers(37;0.0212)	1128					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3383C>G		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340556	0.41498	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.74842	-0.88;-0.88	5.95	5.0	0.66597	SNF2-related (1);	0.111273	0.40554	N	0.001067	T	0.48909	0.1526	N	0.02213	-0.635	0.42493	D	0.992909	B;B;B;B	0.14438	0.0;0.01;0.003;0.003	B;B;B;B	0.17098	0.001;0.017;0.014;0.008	T	0.48399	-0.9039	10	0.09590	T	0.72	-17.6552	15.0137	0.71567	0.0:0.9322:0.0:0.0678	.	654;1128;1128;1128	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1128;1128;654	ENSP00000396345:T1128S;ENSP00000381522:T1128S	ENSP00000219084:T654S	T	+	2	0	CHD9	51837192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.035000	0.70940	1.527000	0.49086	0.655000	0.94253	ACT		0.323	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		17	22	0	0	0	1	0	17	22				
SPATA4	132851	broad.mit.edu	37	4	177113916	177113916	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:177113916C>A	ENST00000280191.2	-	4	658	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SPATA4_ENST00000515234.1_Missense_Mutation_p.V11F	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	184						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GACTTCGAAACTGTAGACCTG	0.363																																						ENST00000515234.1																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(31-33)Gtt>Ttt		spermatogenesis associated 4							68.0	69.0	68.0					4																	177113916		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113916C>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.550G>T	4.37:g.177113916C>A	ENSP00000280191:p.Val184Phe					SPATA4_ENST00000280191.2_Missense_Mutation_p.V184F	p.V11F			Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	1626	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	184					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.31G>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	9.628	1.135667	0.21123	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.21932	1.98	5.27	4.43	0.53597	.	0.346769	0.28555	N	0.014935	T	0.19366	0.0465	L	0.43152	1.355	0.09310	N	1	P	0.35155	0.487	B	0.33846	0.171	T	0.11446	-1.0587	10	0.52906	T	0.07	-16.8757	12.7459	0.57281	0.0:0.6842:0.3158:0.0	.	184	Q8NEY3	SPAT4_HUMAN	F	184;11	ENSP00000280191:V184F	ENSP00000280191:V184F	V	-	1	0	SPATA4	177350910	0.993000	0.37304	0.238000	0.24106	0.403000	0.30841	1.679000	0.37597	1.351000	0.45789	-0.150000	0.13652	GTT		0.363	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		15	30	1	0	0.000308642	1	0.00031582	15	30				
NPAP1	23742	broad.mit.edu	37	15	24921910	24921910	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:24921910G>T	ENST00000329468.2	+	1	1370	c.896G>T	c.(895-897)gGa>gTa	p.G299V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	299	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTGATGTCCGGAAAGAGGATG	0.582																																						ENST00000329468.2																			0											c.(895-897)gGa>gTa		nuclear pore associated protein 1							50.0	50.0	50.0					15																	24921910		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24921910G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.896G>T	15.37:g.24921910G>T	ENSP00000333735:p.Gly299Val						p.G299V	NM_018958.2	NP_061831.2					1	1370	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.896G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.395	0.631650	0.14322	.	.	ENSG00000185823	ENST00000329468	T	0.12672	2.66	2.14	-1.3	0.09259	.	1.101290	0.07193	N	0.856171	T	0.07369	0.0186	L	0.29908	0.895	0.09310	N	1	B	0.31705	0.336	B	0.30782	0.12	T	0.37361	-0.9709	10	0.15952	T	0.53	.	0.831	0.01130	0.1605:0.2352:0.3651:0.2392	.	299	Q9NZP6	CO002_HUMAN	V	299	ENSP00000333735:G299V	ENSP00000333735:G299V	G	+	2	0	C15orf2	22473003	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.792000	0.04594	-0.302000	0.08869	-1.027000	0.02421	GGA		0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		10	74	1	0	1.08611e-07	1	1.17273e-07	10	74				
EBF3	253738	broad.mit.edu	37	10	131761720	131761720	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:131761720A>T	ENST00000355311.5	-	2	274	c.202T>A	c.(202-204)Ttc>Atc	p.F68I	EBF3_ENST00000368648.3_Missense_Mutation_p.F68I			Q9H4W6	COE3_HUMAN	early B-cell factor 3	68					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACGAAGTGGAAGAAATTGGAT	0.592																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(202-204)Ttc>Atc		early B-cell factor 3							57.0	62.0	60.0					10																	131761720		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761720A>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.202T>A	10.37:g.131761720A>T	ENSP00000347463:p.Phe68Ile					EBF3_ENST00000355311.5_Missense_Mutation_p.F68I	p.F68I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	274	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	68					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.202T>A		.	.	.	.	.	.	.	.	.	.	A	23.0	4.358878	0.82353	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.66815	-0.23;-0.18	3.27	3.27	0.37495	.	0.000000	0.85682	U	0.000000	D	0.82540	0.5059	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84925	0.0856	10	0.87932	D	0	-7.7687	11.2757	0.49165	1.0:0.0:0.0:0.0	.	68;68	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	I	68	ENSP00000347463:F68I;ENSP00000357637:F68I	ENSP00000347463:F68I	F	-	1	0	EBF3	131651710	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.364000	0.90105	1.104000	0.41587	0.172000	0.16884	TTC		0.592	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		13	47	0	0	0	1	0	13	47				
NSD1	64324	broad.mit.edu	37	5	176631153	176631153	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:176631153G>T	ENST00000439151.2	+	4	1141	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	NSD1_ENST00000361032.4_Intron|NSD1_ENST00000347982.4_Missense_Mutation_p.V97L|NSD1_ENST00000354179.4_Missense_Mutation_p.V97L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	366	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGTACTACGTGGAGGCTTT	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1096-1098)Gtg>Ttg		nuclear receptor binding SET domain protein 1							143.0	150.0	148.0					5																	176631153		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176631153G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1096G>T	5.37:g.176631153G>T	ENSP00000395929:p.Val366Leu	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Missense_Mutation_p.V97L|NSD1_ENST00000347982.4_Missense_Mutation_p.V97L	p.V366L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	4	1141	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	366			PWWP 1.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1096G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573369	0.86542	.	.	ENSG00000165671	ENST00000510954;ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.35	5.35	0.76521	PWWP (3);	0.000000	0.52532	D	0.000068	D	0.87884	0.6290	L	0.54863	1.705	0.33222	D	0.554749	P;D	0.53462	0.951;0.96	B;P	0.51582	0.414;0.674	D	0.91232	0.5015	10	0.72032	D	0.01	.	19.0302	0.92953	0.0:0.0:1.0:0.0	.	97;366	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	97;97;97;97;366;97	ENSP00000423982:V97L;ENSP00000346111:V97L;ENSP00000423372:V97L;ENSP00000395929:V366L;ENSP00000343209:V97L	ENSP00000343209:V97L	V	+	1	0	NSD1	176563759	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	4.360000	0.59455	2.668000	0.90789	0.655000	0.94253	GTG		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		44	114	1	0	8.86878e-18	1	1.05467e-17	44	114				
HEATR1	55127	broad.mit.edu	37	1	236760165	236760165	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:236760165T>A	ENST00000366582.3	-	6	829	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	HEATR1_ENST00000366581.2_Missense_Mutation_p.I239F|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	239					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTTTGGCGATGATATTGTCT	0.433																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(715-717)Atc>Ttc		HEAT repeat containing 1							140.0	133.0	135.0					1																	236760165		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236760165T>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.715A>T	1.37:g.236760165T>A	ENSP00000355541:p.Ile239Phe					HEATR1_ENST00000366581.2_Missense_Mutation_p.I239F|HEATR1_ENST00000483073.1_5'UTR	p.I239F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	829	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	239					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.715A>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757660	0.49468	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.50001	0.76;0.76	5.65	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.174023	0.49916	D	0.000123	T	0.41096	0.1144	L	0.50333	1.59	0.80722	D	1	P	0.39624	0.681	B	0.39531	0.302	T	0.20806	-1.0264	10	0.45353	T	0.12	.	8.8458	0.35170	0.0:0.7692:0.0:0.2308	.	239	Q9H583	HEAT1_HUMAN	F	239	ENSP00000355541:I239F;ENSP00000355540:I239F	ENSP00000355540:I239F	I	-	1	0	HEATR1	234826788	0.836000	0.29430	0.314000	0.25224	0.989000	0.77384	1.389000	0.34453	0.727000	0.32360	-0.242000	0.12053	ATC		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		28	65	0	0	0	1	0	28	65				
EMCN	51705	broad.mit.edu	37	4	101337095	101337095	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:101337095G>A	ENST00000296420.4	-	10	889	c.711C>T	c.(709-711)agC>agT	p.S237S	EMCN_ENST00000305864.3_Silent_p.S154S|EMCN_ENST00000511970.1_Silent_p.S224S	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	237						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S237S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GAAGCTTCACGCTCTCTTTAT	0.323																																						ENST00000296420.4																			1	Substitution - coding silent(1)	p.S237S(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(709-711)agC>agT		endomucin							44.0	43.0	43.0					4																	101337095		2203	4294	6497	SO:0001819	synonymous_variant	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101337095G>A	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.711C>T	4.37:g.101337095G>A						EMCN_ENST00000305864.3_Silent_p.S154S|EMCN_ENST00000511970.1_Silent_p.S224S	p.S237S	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	10	889	-			237					A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	c.711C>T	CCDS3655.1																																																																																				0.323	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		6	18	0	0	0	1	0	6	18				
OR2M3	127062	broad.mit.edu	37	1	248367151	248367151	+	Missense_Mutation	SNP	G	G	T	rs145845024		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:248367151G>T	ENST00000456743.1	+	1	820	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACATACGGCCCACATCT	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(781-783)cGg>cTg		olfactory receptor, family 2, subfamily M, member 3							197.0	181.0	186.0					1																	248367151		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367151G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.782G>T	1.37:g.248367151G>T	ENSP00000389625:p.Arg261Leu						p.R261L	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	820	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.782G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	7.263	0.605502	0.14002	.	.	ENSG00000228198	ENST00000456743	T	0.36699	1.24	2.54	-0.671	0.11381	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.35624	0.0938	M	0.64170	1.965	0.09310	N	1	P	0.41929	0.765	P	0.48524	0.58	T	0.28299	-1.0048	10	0.05620	T	0.96	.	7.3297	0.26575	0.5419:0.0:0.4581:0.0	.	261	Q8NG83	OR2M3_HUMAN	L	261	ENSP00000389625:R261L	ENSP00000389625:R261L	R	+	2	0	OR2M3	246433774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.523000	0.06230	-0.001000	0.14495	-0.552000	0.04208	CGG		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		26	170	1	0	3.01185e-09	1	3.33387e-09	26	170				
TRPC1	7220	broad.mit.edu	37	3	142499867	142499867	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:142499867A>C	ENST00000476941.1	+	6	1442	c.956A>C	c.(955-957)aAa>aCa	p.K319T	TRPC1_ENST00000273482.6_Missense_Mutation_p.K285T	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	319					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TATAACCAGAAAGAGGTATGA	0.368																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(853-855)aAa>aCa		transient receptor potential cation channel, subfamily C, member 1							32.0	35.0	34.0					3																	142499867		2198	4300	6498	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499867A>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.956A>C	3.37:g.142499867A>C	ENSP00000419313:p.Lys319Thr					TRPC1_ENST00000476941.1_Missense_Mutation_p.K319T	p.K285T	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			5	1245	+			319					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.854A>C	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697398	0.88830	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.73152	-0.72;-0.72	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.91635	0.954;0.999	D	0.85943	0.1459	10	0.87932	D	0	-17.4501	16.1354	0.81481	1.0:0.0:0.0:0.0	.	319;285	P48995;P48995-2	TRPC1_HUMAN;.	T	319;285	ENSP00000419313:K319T;ENSP00000273482:K285T	ENSP00000273482:K285T	K	+	2	0	TRPC1	143982557	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.207000	0.71202	0.533000	0.62120	AAA		0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		5	64	0	0	0	1	0	5	64				
OBSCN	84033	broad.mit.edu	37	1	228433259	228433259	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:228433259C>T	ENST00000422127.1	+	12	3671	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.S1301S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1209S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1209	Ig-like 12.|Poly-Ser.				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)				TGAGCTCCAGCTCAAAAGTAC	0.627																																						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.(3901-3903)agC>agT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							99.0	97.0	98.0					1																	228433259		2084	4210	6294	SO:0001819	synonymous_variant	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.chr1:228433259C>T	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.3627C>T	1.37:g.228433259C>T						OBSCN_ENST00000422127.1_Silent_p.S1209S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1209S|OBSCN_ENST00000366707.4_5'UTR	p.S1301S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3977	+		Prostate(94;0.0405)	280			Ig-like 13.|Poly-Ser.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3903C>T	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	75	0	0	0	1	0	12	75				
TNKS	8658	broad.mit.edu	37	8	9627666	9627666	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:9627666G>A	ENST00000310430.6	+	26	3817	c.3791G>A	c.(3790-3792)aGc>aAc	p.S1264N	TNKS_ENST00000518281.1_Missense_Mutation_p.S1027N	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1264	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTGCAGTTTAGCACCATGAAA	0.448																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3790-3792)aGc>aAc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							69.0	68.0	68.0					8																	9627666		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9627666G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3791G>A	8.37:g.9627666G>A	ENSP00000311579:p.Ser1264Asn					TNKS_ENST00000518281.1_Missense_Mutation_p.S1027N	p.S1264N	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	26	3817	+			1264			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3791G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652292	0.67472	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.14640	2.49;2.49;2.58	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.38649	1.16	0.80722	D	1	B	0.22276	0.067	B	0.25614	0.062	T	0.03993	-1.0986	10	0.45353	T	0.12	.	19.0722	0.93143	0.0:0.0:1.0:0.0	.	1264	O95271	TNKS1_HUMAN	N	1264;1027;9	ENSP00000311579:S1264N;ENSP00000429890:S1027N;ENSP00000428185:S9N	ENSP00000311579:S1264N	S	+	2	0	TNKS	9665076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.803000	0.99136	2.595000	0.87683	0.655000	0.94253	AGC		0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		29	38	0	0	0	1	0	29	38				
FAM172A	83989	broad.mit.edu	37	5	93120106	93120106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:93120106G>A	ENST00000395965.3	-	9	1148	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	FAM172A_ENST00000509739.1_Nonsense_Mutation_p.R189*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.R226*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.R290*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	336						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						ATCCATTCTCGAATCGTTTTG	0.448																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1006-1008)Cga>Tga		family with sequence similarity 172, member A							192.0	172.0	179.0					5																	93120106		2203	4300	6503	SO:0001587	stop_gained	83989					endoplasmic reticulum|extracellular region		g.chr5:93120106G>A		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1006C>T	5.37:g.93120106G>A	ENSP00000379294:p.Arg336*					FAM172A_ENST00000509739.1_Nonsense_Mutation_p.R189*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.R290*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.R226*	p.R336*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			9	1148	-			336					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Nonsense_Mutation	SNP	ENST00000395965.3	37	c.1006C>T	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523052	0.85600	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	.	.	.	5.27	5.27	0.74061	.	0.065520	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2624	18.9111	0.92485	0.0:0.0:1.0:0.0	.	.	.	.	X	336;226;189;290	.	ENSP00000379294:R336X	R	-	1	2	FAM172A	93145862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.951000	0.70273	2.464000	0.83262	0.650000	0.86243	CGA		0.448	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		15	89	0	0	0	1	0	15	89				
GRID2	2895	broad.mit.edu	37	4	94411877	94411877	+	Missense_Mutation	SNP	C	C	T	rs150683134		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:94411877C>T	ENST00000282020.4	+	12	2204	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	GRID2_ENST00000510992.1_Missense_Mutation_p.T554M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	649					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCATCTTACACGGCAAACCTC	0.438																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1945-1947)aCg>aTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	163.0	164.0	164.0		1946	5.4	1.0	4	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GRID2	NM_001510.2	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	649/1008	94411877	3,13003	2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94411877C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1946C>T	4.37:g.94411877C>T	ENSP00000282020:p.Thr649Met					GRID2_ENST00000510992.1_Missense_Mutation_p.T554M	p.T649M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	12	2204	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	649					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1946C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892747	0.72524	2.27E-4	2.33E-4	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.61627	0.09;0.09	5.37	5.37	0.77165	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86154	0.1589	10	0.87932	D	0	.	19.1096	0.93312	0.0:1.0:0.0:0.0	.	554;649	E9PH24;O43424	.;GRID2_HUMAN	M	649;554	ENSP00000282020:T649M;ENSP00000421257:T554M	ENSP00000282020:T649M	T	+	2	0	GRID2	94630900	1.000000	0.71417	0.992000	0.48379	0.398000	0.30690	7.456000	0.80751	2.509000	0.84616	0.591000	0.81541	ACG		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			33	62	0	0	0	1	0	33	62				
TUBGCP4	27229	broad.mit.edu	37	15	43670086	43670086	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:43670086A>G	ENST00000260383.7	+	5	680	c.426A>G	c.(424-426)caA>caG	p.Q142Q	TUBGCP4_ENST00000399460.3_Silent_p.Q6Q|TUBGCP4_ENST00000564079.1_Silent_p.Q142Q			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	142					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TAGTAGAACAAATTAAAAGTC	0.313																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(424-426)caA>caG		tubulin, gamma complex associated protein 4							137.0	125.0	129.0					15																	43670086		1798	4072	5870	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43670086A>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.426A>G	15.37:g.43670086A>G						TUBGCP4_ENST00000260383.7_Silent_p.Q142Q|TUBGCP4_ENST00000399460.3_Silent_p.Q6Q	p.Q142Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	5	666	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	142					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.426A>G																																																																																					0.313	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		21	71	0	0	0	1	0	21	71				
HEMGN	55363	broad.mit.edu	37	9	100693459	100693459	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:100693459C>T	ENST00000259456.3	-	4	361	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	73	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.R73Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTCTTCGATTTCCTTT	0.413																																						ENST00000259456.3																			1	Substitution - Missense(1)	p.R73Q(1)	large_intestine(1)	NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(217-219)cGa>cAa		hemogen							148.0	147.0	147.0					9																	100693459		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693459C>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.218G>A	9.37:g.100693459C>T	ENSP00000259456:p.Arg73Gln						p.R73Q	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	361	-		Acute lymphoblastic leukemia(62;0.0559)	73			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.218G>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	9.245	1.039257	0.19669	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.3	0.438	0.16560	.	1.722310	0.02872	N	0.131675	T	0.10294	0.0252	N	0.01352	-0.895	0.21290	N	0.999736	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	9	0.10902	T	0.67	0.1231	4.0164	0.09646	0.0:0.1953:0.1787:0.6259	.	73	Q9BXL5	HEMGN_HUMAN	Q	73	.	ENSP00000259456:R73Q	R	-	2	0	HEMGN	99733280	0.033000	0.19621	0.976000	0.42696	0.969000	0.65631	-0.212000	0.09319	0.062000	0.16340	-0.383000	0.06682	CGA		0.413	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		18	61	0	0	0	1	0	18	61				
ACY1	95	broad.mit.edu	37	3	52018113	52018113	+	Silent	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:52018113A>T	ENST00000404366.2	+	2	179	c.33A>T	c.(31-33)ccA>ccT	p.P11P	ACY1_ENST00000476854.1_Silent_p.P11P|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000458031.2_Silent_p.P101P|ACY1_ENST00000494103.1_Silent_p.P11P|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_Silent_p.P11P	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	11					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	AGGAGCACCCATCGGTGACGC	0.612																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(301-303)ccA>ccT		aminoacylase 1	L-Aspartic Acid(DB00128)						92.0	77.0	82.0					3																	52018113		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52018113A>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.33A>T	3.37:g.52018113A>T						ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476854.1_Silent_p.P11P|ACY1_ENST00000476351.1_Silent_p.P11P|ACY1_ENST00000404366.2_Silent_p.P11P|ACY1_ENST00000494103.1_Silent_p.P11P	p.P101P			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	534	+			11					C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	c.303A>T	CCDS2844.1																																																																																				0.612	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		27	22	0	0	0	1	0	27	22				
NOVA2	4858	broad.mit.edu	37	19	46444162	46444162	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:46444162G>A	ENST00000263257.5	-	4	632	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	146	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTCCCTTGCCGATGATCAGGC	0.542																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(436-438)atC>atT		neuro-oncological ventral antigen 2							22.0	22.0	22.0					19																	46444162		2202	4294	6496	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46444162G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.438C>T	19.37:g.46444162G>A							p.I146I	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	632	-		all_neural(266;0.113)|Ovarian(192;0.127)	146			KH 2.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.438C>T	CCDS12679.1																																																																																				0.542	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		5	23	0	0	0	1	0	5	23				
NBPF10	100132406	broad.mit.edu	37	1	145368468	145368468	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:145368468A>G	ENST00000369339.3	+	17	2053	c.1800A>G	c.(1798-1800)gaA>gaG	p.E600E	NBPF10_ENST00000369338.1_Silent_p.E598E|NBPF10_ENST00000342960.5_Silent_p.E3482E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	777	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGAAGTGGAAGAGCGTGAAG	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10444-10446)gaA>gaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368468A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1800A>G	1.37:g.145368468A>G						NBPF10_ENST00000369338.1_Silent_p.E598E|NBPF10_ENST00000369339.2_Silent_p.E600E	p.E3482E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10481	+	all_hematologic(923;0.032)		3482					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10446A>G																																																																																					0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		56	407	0	0	0	1	0	56	407				
RNASEH2C	84153	broad.mit.edu	37	11	65487842	65487842	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:65487842C>T	ENST00000308418.4	-	2	407	c.219G>A	c.(217-219)gtG>gtA	p.V73V	RNASEH2C_ENST00000527610.1_Silent_p.V73V|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	73					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						GCGGCACCGCCACCTCCTCTC	0.662																																						ENST00000308418.4																			0				cervix(1)	1						c.(217-219)gtG>gtA		ribonuclease H2, subunit C							50.0	59.0	56.0					11																	65487842		2201	4297	6498	SO:0001819	synonymous_variant	84153				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr11:65487842C>T	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"""Aicardi-Goutieres syndrome 3"""	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.219G>A	11.37:g.65487842C>T						RNASEH2C_ENST00000528220.1_5'UTR|RNASEH2C_ENST00000527610.1_Silent_p.V73V	p.V73V	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN			2	407	-			73					Q9H7F5	Silent	SNP	ENST00000308418.4	37	c.219G>A	CCDS8111.1																																																																																				0.662	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390693.2	NM_032193		24	49	0	0	0	1	0	24	49				
KLC2	64837	broad.mit.edu	37	11	66026136	66026136	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:66026136T>G	ENST00000417856.1	+	2	314	c.71T>G	c.(70-72)gTc>gGc	p.V24G	KLC2_ENST00000394067.2_Missense_Mutation_p.V24G|KLC2_ENST00000394078.1_Missense_Mutation_p.V24G|KLC2_ENST00000421552.1_Missense_Mutation_p.V24G|KLC2_ENST00000316924.5_Missense_Mutation_p.V24G|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394066.2_Missense_Mutation_p.V24G|KLC2_ENST00000394065.2_5'Flank	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	24					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCAAGGCTGTCATCCAGGGA	0.657											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000417856.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(70-72)gTc>gGc		kinesin light chain 2							97.0	80.0	86.0					11																	66026136		2200	4295	6495	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66026136T>G	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.71T>G	11.37:g.66026136T>G	ENSP00000399403:p.Val24Gly		OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	KLC2_ENST00000394078.1_Missense_Mutation_p.V24G|KLC2_ENST00000316924.5_Missense_Mutation_p.V24G|KLC2_ENST00000394066.2_Missense_Mutation_p.V24G|KLC2_ENST00000394067.2_Missense_Mutation_p.V24G|KLC2_ENST00000421552.1_Missense_Mutation_p.V24G	p.V24G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN			2	314	+			24					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.71T>G	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839916	0.91117	.	.	ENSG00000174996	ENST00000531240;ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000475757;ENST00000394066	T;D;T;T;D;D;D;D;D;T;D	0.90385	0.06;-1.98;0.19;0.12;-1.98;-1.98;-2.66;-1.62;-2.02;0.12;-2.66	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000007	D	0.94503	0.8230	M	0.77406	2.37	0.39710	D	0.971315	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.981;0.98	D	0.95266	0.8373	10	0.87932	D	0	-27.5753	11.9457	0.52926	0.0:0.0:0.0:1.0	.	24;24;24	A8MX29;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	G	24	ENSP00000436577:V24G;ENSP00000399403:V24G;ENSP00000437026:V24G;ENSP00000396952:V24G;ENSP00000377631:V24G;ENSP00000314837:V24G;ENSP00000408484:V24G;ENSP00000377641:V24G;ENSP00000434538:V24G;ENSP00000431253:V24G;ENSP00000377630:V24G	ENSP00000314837:V24G	V	+	2	0	KLC2	65782712	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.468000	0.80943	1.652000	0.50683	0.459000	0.35465	GTC		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		21	61	0	0	0	1	0	21	61				
LRRK2	120892	broad.mit.edu	37	12	40702447	40702447	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702447A>G	ENST00000298910.7	+	29	4196	c.4138A>G	c.(4138-4140)Ata>Gta	p.I1380V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1380	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCCTATCCAAATAAGAGACAA	0.348																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4138-4140)Ata>Gta		leucine-rich repeat kinase 2							88.0	85.0	86.0					12																	40702447		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40702447A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4138A>G	12.37:g.40702447A>G	ENSP00000298910:p.Ile1380Val						p.I1380V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			29	4196	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1380			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4138A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	5.688	0.311573	0.10789	.	.	ENSG00000188906	ENST00000298910	T	0.62788	-0.0	5.39	2.87	0.33458	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.464288	0.24695	N	0.036343	T	0.41534	0.1163	N	0.21324	0.655	0.09310	N	0.999992	B;B	0.15141	0.012;0.012	B;B	0.19946	0.027;0.027	T	0.16276	-1.0408	10	0.20519	T	0.43	.	5.7535	0.18160	0.6376:0.1575:0.2049:0.0	.	1380;1380	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	1380	ENSP00000298910:I1380V	ENSP00000298910:I1380V	I	+	1	0	LRRK2	38988714	0.992000	0.36948	0.918000	0.36340	0.941000	0.58515	2.133000	0.42093	0.881000	0.35993	0.377000	0.23210	ATA		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		17	53	0	0	0	1	0	17	53				
SLC26A6	65010	broad.mit.edu	37	3	48667399	48667399	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:48667399C>G	ENST00000395550.2	-	13	1482	c.1435G>C	c.(1435-1437)Gtg>Ctg	p.V479L	SLC26A6_ENST00000420764.2_Missense_Mutation_p.V479L|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V479L|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V372L|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V443L|SLC26A6_ENST00000358747.6_Missense_Mutation_p.V458L			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	479					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGAAGGTCACCAGCCAGATA	0.622																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1372-1374)Gtg>Ctg		solute carrier family 26 (anion exchanger), member 6							71.0	82.0	78.0					3																	48667399		2126	4223	6349	SO:0001583	missense	65010							g.chr3:48667399C>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1435G>C	3.37:g.48667399C>G	ENSP00000378920:p.Val479Leu					SLC26A6_ENST00000337000.8_Missense_Mutation_p.V372L|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V443L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V479L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V479L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V479L	p.V458L	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	12	1622	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1372G>C	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811461	0.70797	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.94046	-3.18;-3.18;-3.28;-3.17;-3.17;-3.24;-3.34	4.75	4.75	0.60458	.	.	.	.	.	D	0.96250	0.8777	M	0.72576	2.205	0.49798	D	0.999826	D;D;D;P;D;P;P	0.65815	0.97;0.995;0.97;0.938;0.97;0.949;0.595	P;D;P;P;P;P;B	0.71414	0.77;0.973;0.804;0.752;0.665;0.514;0.087	D	0.96561	0.9415	9	0.72032	D	0.01	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	443;492;372;479;479;479;3884	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	L	479;479;479;372;492;458;443;287	ENSP00000404684:V479L;ENSP00000378920:V479L;ENSP00000373239:V479L;ENSP00000337648:V372L;ENSP00000351597:V458L;ENSP00000401066:V443L;ENSP00000389922:V287L	ENSP00000337648:V372L	V	-	1	0	SLC26A6	48642403	0.998000	0.40836	1.000000	0.80357	0.521000	0.34408	3.464000	0.53057	2.606000	0.88127	0.655000	0.94253	GTG		0.622	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		4	34	0	0	0	1	0	4	34				
EPHA7	2045	broad.mit.edu	37	6	93955066	93955066	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:93955066G>A	ENST00000369303.4	-	16	3016	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	944	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCTGCCGTGAAATTATCTT	0.358																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2830-2832)ttC>ttT		EPH receptor A7							77.0	84.0	82.0					6																	93955066		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93955066G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2832C>T	6.37:g.93955066G>A							p.F944F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	16	3016	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	944			SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.2832C>T	CCDS5031.1																																																																																				0.358	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			13	40	0	0	0	1	0	13	40				
UNC13C	440279	broad.mit.edu	37	15	54630594	54630594	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:54630594G>T	ENST00000260323.11	+	16	4620	c.4620G>T	c.(4618-4620)atG>atT	p.M1540I	UNC13C_ENST00000545554.1_Missense_Mutation_p.M1540I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1540					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGCGAGCATGGTGGTGAAGG	0.428																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4618-4620)atG>atT		unc-13 homolog C (C. elegans)							148.0	150.0	150.0					15																	54630594		1881	4107	5988	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630594G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4620G>T	15.37:g.54630594G>T	ENSP00000260323:p.Met1540Ile					UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1540I	p.M1540I			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	16	4620	+			1540					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4620G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571692	0.13623	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78364	-1.17;-1.17;-1.17	4.72	0.418	0.16429	Calcium-dependent secretion activator (1);	0.485051	0.23409	N	0.048483	T	0.54775	0.1879	N	0.14661	0.345	0.34931	D	0.749401	B;B	0.20887	0.006;0.049	B;B	0.22386	0.039;0.038	T	0.46925	-0.9156	10	0.42905	T	0.14	.	3.4229	0.07400	0.3981:0.0:0.4257:0.1762	.	1540;1540	F5H090;Q8NB66	.;UN13C_HUMAN	I	1540;1540;1538	ENSP00000260323:M1540I;ENSP00000438156:M1540I;ENSP00000442569:M1538I	ENSP00000260323:M1540I	M	+	3	0	UNC13C	52417886	0.795000	0.28851	0.965000	0.40720	0.246000	0.25737	0.901000	0.28445	0.295000	0.22570	-0.251000	0.11542	ATG		0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		16	122	1	0	2.35188e-11	1	2.70543e-11	16	122				
FAM135B	51059	broad.mit.edu	37	8	139164068	139164068	+	Missense_Mutation	SNP	G	G	A	rs148073315	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:139164068G>A	ENST00000395297.1	-	13	2820	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	884								p.R884C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTATGACGCGTGGTATTTTT	0.468										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.R884C(2)	large_intestine(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2650-2652)Cgc>Tgc		family with sequence similarity 135, member B		G	CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	115.0	107.0	110.0		2650	1.5	0.0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM135B	NM_015912.3	180	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	benign	884/1407	139164068	9,12997	2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164068G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2650C>T	8.37:g.139164068G>A	ENSP00000378710:p.Arg884Cys	HNSCC(54;0.14)					p.R884C	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2820	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		884					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2650C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985648	0.18889	0.001816	1.16E-4	ENSG00000147724	ENST00000395297	T	0.13901	2.55	5.33	1.51	0.23008	.	1.043410	0.07411	N	0.892363	T	0.08758	0.0217	N	0.17082	0.46	0.09310	N	1	B;B;B	0.20887	0.049;0.005;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.37842	-0.9688	10	0.42905	T	0.14	0.2605	6.5085	0.22208	0.4018:0.0:0.5982:0.0	.	884;884;884	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	884	ENSP00000378710:R884C	ENSP00000276737:R884C	R	-	1	0	FAM135B	139233250	0.070000	0.21116	0.029000	0.17559	0.012000	0.07955	0.724000	0.25954	0.237000	0.21200	-0.768000	0.03414	CGC		0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		17	77	0	0	0	1	0	17	77				
OR5C1	392391	broad.mit.edu	37	9	125551587	125551587	+	Missense_Mutation	SNP	C	C	T	rs372241959	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125551587C>T	ENST00000373680.2	+	1	438	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	126						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(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GGCCTATGACCGCTACGTGGC	0.572													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21303	0.0		0.0	False		,,,				2504	0.0					ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(376-378)Cgc>Tgc		olfactory receptor, family 5, subfamily C, member 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	128.0	132.0		376	5.3	1.0	9		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5C1	NM_001001923.1	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	126/321	125551587	2,13004	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551587C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.376C>T	9.37:g.125551587C>T	ENSP00000362784:p.Arg126Cys						p.R126C	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	438	+			126					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.376C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362903	0.61403	2.27E-4	1.16E-4	ENSG00000148215	ENST00000373680	T	0.77358	-1.09	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	U	0.002258	D	0.84674	0.5524	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85524	0.1205	10	0.72032	D	0.01	.	17.9553	0.89067	0.0:1.0:0.0:0.0	.	126	Q8NGR4	OR5C1_HUMAN	C	126	ENSP00000362784:R126C	ENSP00000362784:R126C	R	+	1	0	OR5C1	124591408	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.530000	0.36007	2.777000	0.95525	0.655000	0.94253	CGC		0.572	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			23	123	0	0	0	1	0	23	123				
PSMB1	5689	broad.mit.edu	37	6	170855255	170855255	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:170855255A>G	ENST00000262193.6	-	3	337	c.239T>C	c.(238-240)aTt>aCt	p.I80T	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GCTGCATCCAATGACTGTTTT	0.333																																						ENST00000262193.6																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(238-240)aTt>aCt		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)						79.0	76.0	77.0					6																	170855255		2203	4300	6503	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170855255A>G	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.239T>C	6.37:g.170855255A>G	ENSP00000262193:p.Ile80Thr					PSMB1_ENST00000462957.1_5'UTR	p.I80T	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	3	337	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	80					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.239T>C	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223421	0.79464	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.23950	1.88	5.27	5.27	0.74061	Proteasome, beta-type subunit, conserved site (1);	0.099482	0.64402	D	0.000002	T	0.41673	0.1169	M	0.65677	2.01	0.53005	D	0.999963	D	0.76494	0.999	D	0.87578	0.998	T	0.42068	-0.9473	10	0.87932	D	0	-24.8576	15.4849	0.75557	1.0:0.0:0.0:0.0	.	80	P20618	PSB1_HUMAN	T	80;85	ENSP00000262193:I80T	ENSP00000262193:I80T	I	-	2	0	PSMB1	170697180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.352000	0.90075	2.119000	0.64992	0.460000	0.39030	ATT		0.333	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		5	22	0	0	0	1	0	5	22				
LRRC37A6P	387646	broad.mit.edu	37	10	27539507	27539507	+	lincRNA	SNP	C	C	T	rs7896532	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:27539507C>T	ENST00000574842.1	+	0	776				LRRC37A6P_ENST00000284414.4_RNA																							GTTCACGCTCCGTAGGATGAC	0.572													C|||	2611	0.521366	0.3472	0.7248	5008	,	,		18490	0.4276		0.7346	False		,,,				2504	0.4898					ENST00000574842.1																			0																																																			387646							g.chr10:27539507C>T																													10.37:g.27539507C>T														0	776	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.572	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			6	89	0	0	0	1	0	6	89				
CACNA1C	775	broad.mit.edu	37	12	2224590	2224590	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:2224590C>A	ENST00000347598.4	+	2	250	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q84K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	84			Q -> R (in dbSNP:rs1051345). {ECO:0000269|PubMed:8392192, ECO:0000269|PubMed:9087614, ECO:0000269|Ref.10}.		adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGAAGCGGCAGCAATATGG	0.672																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(250-252)Cag>Aag		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						23.0	31.0	29.0					12																	2224590		2172	4276	6448	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2224590C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.250C>A	12.37:g.2224590C>A	ENSP00000266376:p.Gln84Lys					CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q84K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q84K	p.Q84K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	2	515	+			84		Q -> R (in dbSNP:rs1051345).			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.250C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339355	0.81911	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.58	5.58	0.84498	.	0.084052	0.47852	D	0.000207	T	0.59555	0.2202	L	0.35593	1.075	0.80722	D	1	D;D;B;P;P;D;P;B;P;P;D;D;B;P;B;D;P;P;D;D	0.58268	0.982;0.982;0.02;0.917;0.917;0.982;0.934;0.003;0.73;0.917;0.982;0.968;0.007;0.917;0.002;0.982;0.917;0.917;0.982;0.982	D;D;B;D;D;D;D;B;P;D;D;D;B;D;B;D;D;D;D;D	0.70227	0.968;0.968;0.05;0.915;0.915;0.968;0.943;0.01;0.467;0.915;0.968;0.959;0.01;0.915;0.039;0.968;0.915;0.915;0.968;0.968	T	0.54309	-0.8313	9	.	.	.	.	19.5768	0.95447	0.0:1.0:0.0:0.0	.	84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84;84	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	84	ENSP00000336982:Q84K;ENSP00000382563:Q84K;ENSP00000437936:Q84K;ENSP00000382552:Q84K;ENSP00000382547:Q84K;ENSP00000382506:Q84K;ENSP00000382530:Q84K;ENSP00000382546:Q84K;ENSP00000382500:Q84K;ENSP00000382549:Q84K;ENSP00000266376:Q84K;ENSP00000382515:Q84K;ENSP00000382510:Q84K;ENSP00000341092:Q84K;ENSP00000382537:Q84K;ENSP00000329877:Q84K;ENSP00000382557:Q84K;ENSP00000385724:Q84K;ENSP00000382512:Q84K;ENSP00000382542:Q84K;ENSP00000382526:Q84K;ENSP00000385896:Q84K;ENSP00000382504:Q84K	.	Q	+	1	0	CACNA1C	2094851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.627000	0.88993	0.555000	0.69702	CAG		0.672	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	26	1	0	0.000157383	1	0.000162938	8	26				
INF2	64423	broad.mit.edu	37	14	105175994	105175994	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr14:105175994A>T	ENST00000392634.4	+	12	2202	c.2090A>T	c.(2089-2091)aAg>aTg	p.K697M	INF2_ENST00000330634.7_Missense_Mutation_p.K697M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	697	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAGCGAGCCAAGCTGGCCAGC	0.667																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2089-2091)aAg>aTg		inverted formin, FH2 and WH2 domain containing							57.0	67.0	64.0					14																	105175994		1956	4140	6096	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105175994A>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2090A>T	14.37:g.105175994A>T	ENSP00000376410:p.Lys697Met					INF2_ENST00000330634.7_Missense_Mutation_p.K697M	p.K697M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	12	2202	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	697			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.2090A>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937232	0.52972	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.19250	2.16;2.16	4.17	0.376	0.16193	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.054882	0.64402	U	0.000001	T	0.43100	0.1232	M	0.84511	2.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.958;0.975	T	0.26326	-1.0106	10	0.87932	D	0	.	7.5987	0.28063	0.7339:0.0:0.2661:0.0	.	697;697	Q27J81-2;Q27J81	.;INF2_HUMAN	M	697	ENSP00000376406:K697M;ENSP00000376410:K697M	ENSP00000252527:K165M	K	+	2	0	INF2	104247039	1.000000	0.71417	0.066000	0.19879	0.636000	0.38137	2.421000	0.44688	-0.217000	0.10033	-0.464000	0.05259	AAG		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		23	56	0	0	0	1	0	23	56				
CLEC4C	170482	broad.mit.edu	37	12	7899926	7899926	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:7899926G>A	ENST00000542353.1	-	2	509	c.19C>T	c.(19-21)Cct>Tct	p.P7S	CLEC4C_ENST00000354629.5_Missense_Mutation_p.P7S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P7S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P7S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	7					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGGTCTTGAGGCTCTTCTTCA	0.488																																						ENST00000542353.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(19-21)Cct>Tct		C-type lectin domain family 4, member C							264.0	205.0	225.0					12																	7899926		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7899926G>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.19C>T	12.37:g.7899926G>A	ENSP00000440428:p.Pro7Ser					CLEC4C_ENST00000354629.5_Missense_Mutation_p.P7S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P7S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P7S	p.P7S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	2	509	-			7					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.19C>T	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856481	0.02630	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000543765	T;T;T;T;T	0.02258	4.51;4.37;4.37;4.51;4.72	0.88	-1.02	0.10135	.	.	.	.	.	T	0.01092	0.0036	N	0.22421	0.69	0.09310	N	1	B;P	0.37233	0.087;0.588	B;B	0.24541	0.009;0.054	T	0.45542	-0.9254	9	0.08837	T	0.75	.	3.5371	0.07798	0.5339:0.0:0.4661:0.0	.	7;7	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	S	7;7;7;7;4	ENSP00000440428:P7S;ENSP00000346648:P7S;ENSP00000445338:P7S;ENSP00000353500:P7S;ENSP00000442457:P4S	ENSP00000346648:P7S	P	-	1	0	CLEC4C	7791193	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.095000	0.11077	-0.442000	0.07190	0.508000	0.49915	CCT		0.488	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		28	65	0	0	0	1	0	28	65				
KIAA1045	23349	broad.mit.edu	37	9	34976163	34976163	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:34976163G>T	ENST00000242315.3	+	4	661	c.579G>T	c.(577-579)ttG>ttT	p.L193F	KIAA1045_ENST00000544237.1_Missense_Mutation_p.L193F|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	193							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATCAACTTGCTGCTTACTG	0.502																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(577-579)ttG>ttT		KIAA1045							95.0	94.0	94.0					9																	34976163		1907	4113	6020	SO:0001583	missense	23349						calcium ion binding	g.chr9:34976163G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.579G>T	9.37:g.34976163G>T	ENSP00000242315:p.Leu193Phe					KIAA1045_ENST00000544237.1_Missense_Mutation_p.L193F|KIAA1045_ENST00000476115.2_3'UTR	p.L193F	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		4	661	+			193					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.579G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884564	0.51908	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.2	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000011	T	0.68109	0.2965	L	0.59436	1.845	0.51233	D	0.999915	D	0.89917	1.0	D	0.91635	0.999	T	0.66606	-0.5881	9	0.41790	T	0.15	-1.3919	8.8936	0.35449	0.083:0.1477:0.7693:0.0	.	193	Q9UPV7	K1045_HUMAN	F	193	.	ENSP00000242315:L193F	L	+	3	2	KIAA1045	34966163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.937000	0.28951	2.433000	0.82419	0.655000	0.94253	TTG		0.502	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		10	26	1	0	0.00829132	1	0.00838662	10	26				
ADAMTS17	170691	broad.mit.edu	37	15	100636618	100636618	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:100636618C>A	ENST00000268070.4	-	15	2185	c.2080G>T	c.(2080-2082)Ggg>Tgg	p.G694W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	694	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTGCCGTCCCCGCTGCAGACC	0.582																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2080-2082)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							95.0	102.0	100.0					15																	100636618		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100636618C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2080G>T	15.37:g.100636618C>A	ENSP00000268070:p.Gly694Trp						p.G694W	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	15	2185	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		694			Cys-rich.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2080G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429713	0.62844	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.74002	-0.8	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93659	0.6980	10	0.87932	D	0	.	17.6927	0.88272	0.0:1.0:0.0:0.0	.	451;694	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	W	694;451	ENSP00000268070:G694W	ENSP00000268070:G694W	G	-	1	0	ADAMTS17	98454141	1.000000	0.71417	0.719000	0.30619	0.146000	0.21551	6.694000	0.74587	2.466000	0.83321	0.655000	0.94253	GGG		0.582	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		58	109	1	0	4.88482e-21	1	5.97034e-21	58	109				
SLC9C2	284525	broad.mit.edu	37	1	173545817	173545817	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:173545817G>A	ENST00000367714.3	-	8	1307	c.885C>T	c.(883-885)atC>atT	p.I295I	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.I193I|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	295					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTACAAGTTCGATCTTCGGTT	0.398																																						ENST00000367714.3																			0											c.(883-885)atC>atT		solute carrier family 9, member C2 (putative)							78.0	76.0	77.0					1																	173545817		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173545817G>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.885C>T	1.37:g.173545817G>A						SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.I193I	p.I295I	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			8	1307	-			295					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.885C>T	CCDS1308.1																																																																																				0.398	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		7	23	0	0	0	1	0	7	23				
GRIK2	2898	broad.mit.edu	37	6	102247631	102247631	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:102247631C>T	ENST00000421544.1	+	7	1550	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C|GRIK2_ENST00000369138.1_Missense_Mutation_p.R354C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	354					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R354C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAAACCCTGGCGCTTCGGGAC	0.443																																						ENST00000369138.1																			2	Substitution - Missense(2)	p.R354C(2)	large_intestine(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1060-1062)Cgc>Tgc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						139.0	126.0	130.0					6																	102247631		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102247631C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1060C>T	6.37:g.102247631C>T	ENSP00000397026:p.Arg354Cys					GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R354C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C	p.R354C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	7	1550	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	354					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1060C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443241	0.83993	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.3	5.3	0.74995	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.67145	0.988;0.996;0.988	P;P;P	0.61328	0.75;0.887;0.67	D	0.88102	0.2820	10	0.66056	D	0.02	.	13.8595	0.63550	0.1528:0.8472:0.0:0.0	.	354;354;354	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	354;354;354;354;354;354;305;316;67	ENSP00000397026:R354C;ENSP00000405596:R354C;ENSP00000358134:R354C;ENSP00000358133:R354C;ENSP00000313276:R354C;ENSP00000358130:R305C;ENSP00000391988:R67C	ENSP00000313276:R354C	R	+	1	0	GRIK2	102354324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.508000	0.60441	2.464000	0.83262	0.655000	0.94253	CGC		0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			26	49	0	0	0	1	0	26	49				
PLCE1	51196	broad.mit.edu	37	10	95791128	95791128	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:95791128A>T	ENST00000371380.3	+	1	560	c.325A>T	c.(325-327)Ata>Tta	p.I109L	PLCE1_ENST00000260766.3_Missense_Mutation_p.I109L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	109					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTGCAACAACATATTGAGAAA	0.383																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(325-327)Ata>Tta		phospholipase C, epsilon 1							85.0	77.0	79.0					10																	95791128		1878	4109	5987	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791128A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.325A>T	10.37:g.95791128A>T	ENSP00000360431:p.Ile109Leu					PLCE1_ENST00000371380.2_Missense_Mutation_p.I109L	p.I109L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	959	+		Colorectal(252;0.0458)	109					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.325A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	2.077	-0.411721	0.04799	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.73152	-0.72;-0.72	4.67	-4.86	0.03132	.	2.671800	0.01441	N	0.015090	T	0.40719	0.1128	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48948	-0.8989	10	0.02654	T	1	.	3.2991	0.06976	0.1504:0.0992:0.1625:0.5879	.	109;109	B7ZM61;Q9P212	.;PLCE1_HUMAN	L	109	ENSP00000260766:I109L;ENSP00000360431:I109L	ENSP00000260766:I109L	I	+	1	0	PLCE1	95781118	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-0.274000	0.08537	-0.381000	0.07882	0.533000	0.62120	ATA		0.383	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		13	66	0	0	0	1	0	13	66				
THBS4	7060	broad.mit.edu	37	5	79372810	79372810	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:79372810G>A	ENST00000350881.2	+	16	2215	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.L584L|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	675					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCCAGACCTGGTGCCCCCTG	0.582																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2023-2025)ctG>ctA		thrombospondin 4							157.0	160.0	159.0					5																	79372810		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372810G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2025G>A	5.37:g.79372810G>A						THBS4_ENST00000511733.1_Silent_p.L584L|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	p.L675L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2215	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	675					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.2025G>A	CCDS4049.1																																																																																				0.582	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			69	159	0	0	0	1	0	69	159				
CPSF6	11052	broad.mit.edu	37	12	69653876	69653876	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:69653876A>G	ENST00000435070.2	+	8	1478	c.1368A>G	c.(1366-1368)aaA>aaG	p.K456K	CPSF6_ENST00000266679.8_Silent_p.K493K|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.K383K	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	456					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTAATTAAACAATCCAAAG	0.363																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1366-1368)aaA>aaG		cleavage and polyadenylation specific factor 6, 68kDa							139.0	138.0	138.0					12																	69653876		2203	4300	6503	SO:0001819	synonymous_variant	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653876A>G	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1368A>G	12.37:g.69653876A>G						CPSF6_ENST00000456847.3_Silent_p.K383K|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.K493K	p.K456K	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		8	1478	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		456					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	37	c.1368A>G	CCDS8988.1																																																																																				0.363	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		22	40	0	0	0	1	0	22	40				
FLNA	2316	broad.mit.edu	37	X	153591107	153591107	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153591107C>T	ENST00000369850.3	-	16	2562	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	FLNA_ENST00000344736.4_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000422373.1_Missense_Mutation_p.G776S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCCGGGGCCGTATACTTTG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(2326-2328)Ggc>Agc		filamin A, alpha							25.0	28.0	27.0					X																	153591107		2029	4152	6181	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153591107C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2326G>A	X.37:g.153591107C>T	ENSP00000358866:p.Gly776Ser					FLNA_ENST00000344736.4_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000369850.3_Missense_Mutation_p.G776S	p.G776S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			16	2574	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		776					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2326G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352607	0.82132	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97346	0.9132	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	.	18.3446	0.90317	0.0:1.0:0.0:0.0	.	776;776	P21333-2;P21333	.;FLNA_HUMAN	S	776;749;776;776;776	ENSP00000353467:G776S;ENSP00000416926:G776S;ENSP00000358866:G776S;ENSP00000358863:G776S	ENSP00000358863:G776S	G	-	1	0	FLNA	153244301	1.000000	0.71417	0.846000	0.33378	0.405000	0.30901	7.818000	0.86416	2.272000	0.75746	0.529000	0.55759	GGC		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			6	6	0	0	0	1	0	6	6				
PCDH17	27253	broad.mit.edu	37	13	58208589	58208589	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:58208589G>C	ENST00000377918.3	+	1	1935	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCACCTGTTTGAGATCGACCC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1909-1911)Gag>Cag		protocadherin 17							90.0	88.0	89.0					13																	58208589		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208589G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1909G>C	13.37:g.58208589G>C	ENSP00000367151:p.Glu637Gln						p.E637Q	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1935	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	637			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1909G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087403	0.55968	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.046298	0.85682	D	0.000000	T	0.61400	0.2344	L	0.39514	1.22	0.50632	D	0.999888	D;D	0.76494	0.999;0.999	D;D	0.76575	0.972;0.988	T	0.57382	-0.7821	9	.	.	.	.	18.9994	0.92828	0.0:0.0:1.0:0.0	.	637;637	O14917-2;O14917	.;PCD17_HUMAN	Q	637	ENSP00000367151:E637Q	.	E	+	1	0	PCDH17	57106590	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.636000	0.74299	2.486000	0.83907	0.561000	0.74099	GAG		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		54	116	0	0	0	1	0	54	116				
TMEM54	113452	broad.mit.edu	37	1	33360449	33360449	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:33360449C>A	ENST00000373463.3	-	6	745	c.626G>T	c.(625-627)cGt>cTt	p.R209L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Missense_Mutation_p.R156L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	209						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGCAGGTCACGGCCCTCCAC	0.632																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(625-627)cGt>cTt		transmembrane protein 54							61.0	58.0	59.0					1																	33360449		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33360449C>A		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.626G>T	1.37:g.33360449C>A	ENSP00000362562:p.Arg209Leu					TMEM54_ENST00000329151.5_Missense_Mutation_p.R156L|TMEM54_ENST00000475208.1_5'UTR	p.R209L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			6	745	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	209					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.626G>T	CCDS371.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446067	0.63178	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.47528	0.84	5.2	-5.03	0.02973	.	1.450480	0.03747	N	0.255913	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B;B;B	0.29341	0.177;0.02;0.242	B;B;B	0.23275	0.045;0.028;0.029	T	0.30268	-0.9984	10	0.62326	D	0.03	.	8.9121	0.35559	0.0:0.5156:0.1189:0.3655	.	189;156;209	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	L	209;156	ENSP00000362562:R209L	ENSP00000328630:R156L	R	-	2	0	TMEM54	33133036	0.000000	0.05858	0.000000	0.03702	0.491000	0.33493	-2.341000	0.01100	-0.747000	0.04759	-0.145000	0.13849	CGT		0.632	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		11	48	1	0	2.27111e-07	1	2.43729e-07	11	48				
PCDH9	5101	broad.mit.edu	37	13	67802561	67802561	+	Missense_Mutation	SNP	C	C	A	rs369300520		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:67802561C>A	ENST00000377865.2	-	1	146	c.12G>T	c.(10-12)agG>agT	p.R4S	PCDH9_ENST00000456367.1_Missense_Mutation_p.R4S|PCDH9_ENST00000377861.3_Missense_Mutation_p.R4S|PCDH9_ENST00000544246.1_Missense_Mutation_p.R4S|PCDH9_ENST00000328454.5_Missense_Mutation_p.R4S			Q9HC56	PCDH9_HUMAN	protocadherin 9	4					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTAAAAATCCCTCAGGTCCA	0.393																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(10-12)agG>agT		protocadherin 9							54.0	54.0	54.0					13																	67802561		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802561C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.12G>T	13.37:g.67802561C>A	ENSP00000367096:p.Arg4Ser					PCDH9_ENST00000456367.1_Missense_Mutation_p.R4S|PCDH9_ENST00000377861.3_Missense_Mutation_p.R4S|PCDH9_ENST00000328454.5_Missense_Mutation_p.R4S|PCDH9_ENST00000377865.2_Missense_Mutation_p.R4S	p.R4S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	703	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	4					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.12G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252748	0.22965	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53423	0.66;0.66;0.62;0.62;0.63	5.82	5.82	0.92795	.	0.174739	0.64402	D	0.000007	T	0.28599	0.0708	N	0.08118	0	0.53005	D	0.999962	B;B;B;B	0.21520	0.036;0.02;0.028;0.057	B;B;B;B	0.20767	0.021;0.021;0.031;0.015	T	0.23048	-1.0199	10	0.02654	T	1	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	4;4;4;4	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	4	ENSP00000442186:R4S;ENSP00000367096:R4S;ENSP00000401699:R4S;ENSP00000332060:R4S;ENSP00000367092:R4S	ENSP00000332060:R4S	R	-	3	2	PCDH9	66700562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.754000	0.94517	0.650000	0.86243	AGG		0.393	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		11	34	1	0	6.40141e-05	1	6.66656e-05	11	34				
CA3	761	broad.mit.edu	37	8	86358382	86358382	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:86358382G>A	ENST00000285381.2	+	6	602	c.519G>A	c.(517-519)gcG>gcA	p.A173A	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	173					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.A173A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GCAAGGAGGCGCCCTTCACAA	0.577																																						ENST00000285381.2																			1	Substitution - coding silent(1)	p.A173A(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(517-519)gcG>gcA		carbonic anhydrase III, muscle specific							38.0	31.0	34.0					8																	86358382		2203	4300	6503	SO:0001819	synonymous_variant	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86358382G>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.519G>A	8.37:g.86358382G>A						RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	p.A173A	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			6	602	+			173					B2R867|B3KUC8|O60842	Silent	SNP	ENST00000285381.2	37	c.519G>A	CCDS6238.1																																																																																				0.577	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		9	21	0	0	0	1	0	9	21				
OR51A4	401666	broad.mit.edu	37	11	4967550	4967550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:4967550C>T	ENST00000380373.2	-	1	806	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGGACAACGGCCAGGTTG	0.473																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(781-783)Gtt>Att		olfactory receptor, family 51, subfamily A, member 4							158.0	149.0	152.0					11																	4967550		2201	4298	6499	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967550C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.781G>A	11.37:g.4967550C>T	ENSP00000369731:p.Val261Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V261I	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	806	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261						Missense_Mutation	SNP	ENST00000380373.2	37	c.781G>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.969167	0.00457	.	.	ENSG00000205497	ENST00000380373	T	0.34667	1.35	3.44	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16342	0.0393	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26052	-1.0114	9	0.25106	T	0.35	.	11.2853	0.49218	0.0:0.6494:0.0:0.3506	.	261	Q8NGJ6	O51A4_HUMAN	I	261	ENSP00000369731:V261I	ENSP00000369731:V261I	V	-	1	0	OR51A4	4924126	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.397000	0.00485	-0.906000	0.03866	-1.458000	0.01028	GTT		0.473	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		30	89	0	0	0	1	0	30	89				
TMEM117	84216	broad.mit.edu	37	12	44782157	44782157	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:44782157G>A	ENST00000266534.3	+	8	1374	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.R312Q	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	416						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTCTTTGGACGATTTTTGAAA	0.413																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1246-1248)cGa>cAa		transmembrane protein 117							128.0	122.0	124.0					12																	44782157		2203	4299	6502	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782157G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1247G>A	12.37:g.44782157G>A	ENSP00000266534:p.Arg416Gln					TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.R312Q|TMEM117_ENST00000551577.1_3'UTR	p.R416Q	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1374	+	Lung SC(27;0.192)		416						Missense_Mutation	SNP	ENST00000266534.3	37	c.1247G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973647	0.92919	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T;T	0.57107	0.42;0.42	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.63843	1.955	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.979	T	0.73180	-0.4064	10	0.72032	D	0.01	-17.4649	19.9155	0.97058	0.0:0.0:1.0:0.0	.	312;416	F5H3Q2;Q9H0C3	.;TM117_HUMAN	Q	416;312;164	ENSP00000266534:R416Q;ENSP00000445243:R312Q	ENSP00000266534:R416Q	R	+	2	0	TMEM117	43068424	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.814000	0.99346	2.699000	0.92147	0.650000	0.86243	CGA		0.413	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		20	71	0	0	0	1	0	20	71				
CHEK2P2	646096	broad.mit.edu	37	15	20495435	20495435	+	RNA	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr15:20495435G>T	ENST00000555186.1	+	0	638					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCTACTCCAGGTTCTAGCCCA	0.388																																						ENST00000555186.1																			0																																																			646096							g.chr15:20495435G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20495435G>T								NR_038836.1						0	638	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.388	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		6	44	1	0	5.9392e-07	1	6.33515e-07	6	44				
GTF2E1	2960	broad.mit.edu	37	3	120469647	120469647	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:120469647A>G	ENST00000283875.5	+	2	341	c.248A>G	c.(247-249)gAc>gGc	p.D83G		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	83	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACTGCTGCAGACGGGAAAACC	0.393																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(247-249)gAc>gGc		general transcription factor IIE, polypeptide 1, alpha 56kDa							80.0	80.0	80.0					3																	120469647		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469647A>G	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.248A>G	3.37:g.120469647A>G	ENSP00000283875:p.Asp83Gly						p.D83G	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	341	+			83			HTH TFE/IIEalpha-type.		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.248A>G	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257754	0.59321	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.50277	0.75	6.06	6.06	0.98353	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	L	0.53671	1.685	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.67382	0.951;0.914	T	0.60840	-0.7183	9	.	.	.	-12.5111	15.7905	0.78357	1.0:0.0:0.0:0.0	.	83;83	P29083;Q53F88	T2EA_HUMAN;.	G	83	ENSP00000283875:D83G	.	D	+	2	0	GTF2E1	121952337	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	9.317000	0.96327	2.324000	0.78689	0.533000	0.62120	GAC		0.393	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		45	55	0	0	0	1	0	45	55				
HBA2	3040	broad.mit.edu	37	16	223474	223474	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:223474C>T	ENST00000251595.6	+	3	370	c.304C>T	c.(304-306)Cta>Tta	p.L102L	HBA2_ENST00000397806.1_Silent_p.L70L	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	102					bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	TGCACAGCTCCTAAGCCACTG	0.687											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)	ENST00000251595.6																			0											c.(304-306)Cta>Tta		hemoglobin, alpha 2	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						26.0	37.0	33.0					16																	223474		2132	4299	6431	SO:0001819	synonymous_variant	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:223474C>T	BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.304C>T	16.37:g.223474C>T			OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA2_ENST00000397806.1_Silent_p.L70L	p.L102L	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN			3	370	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	102					P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Silent	SNP	ENST00000251595.6	37	c.304C>T	CCDS10398.1																																																																																				0.687	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133194.1	NM_000517		11	28	0	0	0	1	0	11	28				
ABCA2	20	broad.mit.edu	37	9	139904658	139904658	+	Missense_Mutation	SNP	C	C	T	rs150403388	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:139904658C>T	ENST00000371605.3	-	40	6484	c.6337G>A	c.(6337-6339)Gtc>Atc	p.V2113I	ABCA2_ENST00000341511.6_Missense_Mutation_p.V2114I|ABCA2_ENST00000265662.5_Missense_Mutation_p.V2114I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2113	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCATTGACGAAGGCCTCG	0.701													C|||	16	0.00319489	0.0121	0.0	5008	,	,		11084	0.0		0.0	False		,,,				2504	0.0					ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6340-6342)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 2		C	ILE/VAL,ILE/VAL	9,4049		0,9,2020	10.0	13.0	12.0		6340,6430	1.0	0.7	9	dbSNP_134	12	0,8278		0,0,4139	no	missense,missense	ABCA2	NM_001606.4,NM_212533.2	29,29	0,9,6159	TT,TC,CC		0.0,0.2218,0.073	benign,benign	2114/2437,2144/2467	139904658	9,12327	2029	4139	6168	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904658C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6337G>A	9.37:g.139904658C>T	ENSP00000360666:p.Val2113Ile					ABCA2_ENST00000371605.3_Missense_Mutation_p.V2113I|ABCA2_ENST00000341511.6_Missense_Mutation_p.V2114I	p.V2114I			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	41	6487	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2113			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6340G>A		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	5.066	0.197797	0.09652	0.002218	0.0	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000398210;ENST00000355090;ENST00000341511	D;D;D	0.92858	-3.12;-3.12;-3.12	4.12	0.989	0.19802	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.294300	0.31734	N	0.007150	T	0.74520	0.3727	N	0.13327	0.33	0.27460	N	0.95318	B;B	0.16802	0.019;0.019	B;B	0.12156	0.004;0.007	T	0.61997	-0.6947	10	0.09084	T	0.74	.	8.6483	0.34018	0.0:0.6259:0.0:0.3741	.	2113;2144	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	I	2114;2113;15;2144;2114	ENSP00000265662:V2114I;ENSP00000360666:V2113I;ENSP00000344155:V2114I	ENSP00000265662:V2114I	V	-	1	0	ABCA2	139024479	0.023000	0.18921	0.691000	0.30163	0.477000	0.33069	0.140000	0.16056	0.406000	0.25560	0.491000	0.48974	GTC		0.701	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	15	0	0	0	1	0	3	15				
INTS5	80789	broad.mit.edu	37	11	62416262	62416262	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:62416262G>A	ENST00000330574.2	-	2	1342	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	430					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCACGCACGGTGTCTGGCA	0.627																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1288-1290)acC>acT		integrator complex subunit 5							49.0	44.0	46.0					11																	62416262		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416262G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1290C>T	11.37:g.62416262G>A							p.T430T	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1342	-			430					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.1290C>T	CCDS8027.1																																																																																				0.627	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		17	51	0	0	0	1	0	17	51				
HOOK3	84376	broad.mit.edu	37	8	42868541	42868541	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:42868541A>G	ENST00000307602.4	+	21	2214	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	672	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGGTACAATATGGTAAGAAA	0.289			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(2014-2016)Atg>Gtg		hook microtubule-tethering protein 3							86.0	101.0	96.0					8																	42868541		2201	4295	6496	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42868541A>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2014A>G	8.37:g.42868541A>G	ENSP00000305699:p.Met672Val						p.M672V	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		21	2214	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	672			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.2014A>G	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900802	0.72754	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.17370	2.28;2.28	5.72	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	M	0.69823	2.125	0.58432	D	0.999999	P	0.45986	0.87	P	0.49502	0.613	T	0.02991	-1.1085	10	0.49607	T	0.09	-20.0433	13.329	0.60475	0.8681:0.1319:0.0:0.0	.	672	Q86VS8	HOOK3_HUMAN	V	672;150	ENSP00000305699:M672V;ENSP00000433953:M150V	ENSP00000305699:M672V	M	+	1	0	HOOK3	42987698	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.949000	0.75971	1.082000	0.41137	0.533000	0.62120	ATG		0.289	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		36	59	0	0	0	1	0	36	59				
SS18L1	26039	broad.mit.edu	37	20	60738656	60738656	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr20:60738656G>A	ENST00000331758.3	+	6	725	c.699G>A	c.(697-699)gcG>gcA	p.A233A	SS18L1_ENST00000421564.1_Silent_p.A233A|SS18L1_ENST00000370848.4_Silent_p.A236A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	233	Gln-rich.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGCCCATGGCGCCCTACCGGC	0.716			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(697-699)gcG>gcA		synovial sarcoma translocation gene on chromosome 18-like 1							16.0	18.0	17.0					20																	60738656		2188	4288	6476	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60738656G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.699G>A	20.37:g.60738656G>A						SS18L1_ENST00000370848.4_Silent_p.A236A|SS18L1_ENST00000421564.1_Silent_p.A233A	p.A233A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		6	725	+	Breast(26;3.97e-09)		233			Gln-rich.		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.699G>A	CCDS13491.1																																																																																				0.716	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			11	12	0	0	0	1	0	11	12				
CNKSR2	22866	broad.mit.edu	37	X	21627482	21627482	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:21627482G>T	ENST00000379510.3	+	20	2475	c.2439G>T	c.(2437-2439)caG>caT	p.Q813H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q764H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.Q783H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q813H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	813					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCCAACTCAGAAATGCCACC	0.542																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2347-2349)caG>caT		connector enhancer of kinase suppressor of Ras 2							67.0	61.0	63.0					X																	21627482		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627482G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2439G>T	X.37:g.21627482G>T	ENSP00000368824:p.Gln813His					CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q764H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q813H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q813H	p.Q783H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2829	+			813					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2349G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604502	0.46423	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.20332	2.35;2.08;2.1;2.38	5.51	1.23	0.21249	.	0.113170	0.64402	D	0.000011	T	0.31734	0.0806	L	0.53249	1.67	0.34707	D	0.727302	P;D;D;D	0.62365	0.892;0.984;0.991;0.971	P;P;P;P	0.58873	0.615;0.789;0.847;0.711	T	0.39722	-0.9600	10	0.62326	D	0.03	-19.3349	9.1871	0.37176	0.53:0.0:0.47:0.0	.	783;764;405;813	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	H	783;764;813;813	ENSP00000397906:Q783H;ENSP00000444633:Q764H;ENSP00000279451:Q813H;ENSP00000368824:Q813H	ENSP00000279451:Q813H	Q	+	3	2	CNKSR2	21537403	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	2.299000	0.43611	0.077000	0.16863	-0.322000	0.08575	CAG		0.542	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		33	24	1	0	9.04072e-19	1	1.08984e-18	33	24				
CHEK2	11200	broad.mit.edu	37	22	29091842	29091842	+	Missense_Mutation	SNP	G	G	A	rs147877722		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:29091842G>A	ENST00000405598.1	-	12	1306	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Missense_Mutation_p.S151F|CHEK2_ENST00000348295.3_Missense_Mutation_p.S343F|CHEK2_ENST00000402731.1_Missense_Mutation_p.S343F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382580.2_Missense_Mutation_p.S415F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S281F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S372F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.S372F|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAAAATCTTGGAGTGCCCAAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tCc>tTc	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2		G	PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	43.0	44.0	43.0		1244,1115,1028	5.9	1.0	22	dbSNP_134	43	1,8599		0,1,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	155,155,155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	415/587,372/544,343/515	29091842	1,13005	2203	4300	6503	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091842G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1115C>T	22.37:g.29091842G>A	ENSP00000386087:p.Ser372Phe					CHEK2_ENST00000348295.3_Missense_Mutation_p.S343F|CHEK2_ENST00000402731.1_Missense_Mutation_p.S343F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S372F|CHEK2_ENST00000382580.2_Missense_Mutation_p.S415F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.S372F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S281F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S372F	p.S151F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1888	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.452C>T	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.098712|4.098712	0.76870|0.76870	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T	.|0.70631	.|-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88190|0.88190	0.6370|0.6370	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|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;0.999;0.996;1.0;1.0	D|D	0.89889|0.89889	0.4036|0.4036	5|10	.|0.87932	.|D	.|0	-7.6356|-7.6356	19.2242|19.2242	0.93812|0.93812	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;151;372;343;372;415	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	S|F	116|343;281;151;372;372;372;415;281;343	.|ENSP00000329012:S343F;ENSP00000372021:S281F;ENSP00000442458:S151F;ENSP00000329178:S372F;ENSP00000385747:S372F;ENSP00000386087:S372F;ENSP00000372023:S415F;ENSP00000384919:S281F;ENSP00000384835:S343F	.|ENSP00000329178:S372F	P|S	-|-	1|2	0|0	CHEK2|CHEK2	27421842|27421842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.500000|0.500000	0.33767|0.33767	8.737000|8.737000	0.91562|0.91562	2.787000|2.787000	0.95880|0.95880	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	32	0	0	0	1	0	12	32				
CLEC1B	51266	broad.mit.edu	37	12	10149793	10149793	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:10149793A>G	ENST00000298527.6	-	3	428	c.249T>C	c.(247-249)taT>taC	p.Y83Y	CLEC1B_ENST00000348658.4_Silent_p.Y50Y|CLEC1B_ENST00000428126.2_Silent_p.Y50Y	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	83					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTTTTACCACATATTGACAGA	0.403																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(148-150)taT>taC		C-type lectin domain family 1, member B							114.0	103.0	107.0					12																	10149793		1836	4091	5927	SO:0001819	synonymous_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149793A>G	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.249T>C	12.37:g.10149793A>G						CLEC1B_ENST00000298527.6_Silent_p.Y83Y|CLEC1B_ENST00000348658.4_Silent_p.Y50Y	p.Y50Y			Q9P126	CLC1B_HUMAN			4	419	-			83					Q6UWX7|Q8NHR6	Silent	SNP	ENST00000298527.6	37	c.150T>C	CCDS41752.1																																																																																				0.403	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		10	53	0	0	0	1	0	10	53				
PARP14	54625	broad.mit.edu	37	3	122420437	122420437	+	Silent	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:122420437A>T	ENST00000474629.2	+	6	3302	c.3036A>T	c.(3034-3036)ggA>ggT	p.G1012G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1012	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTCCCCGGGAGGCCTGCAGA	0.557																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3034-3036)ggA>ggT		poly (ADP-ribose) polymerase family, member 14							29.0	29.0	29.0					3																	122420437		1941	4142	6083	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420437A>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3036A>T	3.37:g.122420437A>T							p.G1012G	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	3302	+			1012			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.3036A>T	CCDS46894.1																																																																																				0.557	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		6	19	0	0	0	1	0	6	19				
BRSK2	9024	broad.mit.edu	37	11	1464609	1464609	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:1464609C>T	ENST00000528841.1	+	7	993	c.609C>T	c.(607-609)ggC>ggT	p.G203G	BRSK2_ENST00000528710.1_Silent_p.G143G|BRSK2_ENST00000308230.5_Silent_p.G203G|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000526678.1_Silent_p.G203G|BRSK2_ENST00000531197.1_Silent_p.G203G|BRSK2_ENST00000308219.9_Silent_p.G203G|BRSK2_ENST00000382179.1_Silent_p.G249G			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGAGCTGCGGCGTCATCCTGT	0.716																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(607-609)ggC>ggT		BR serine/threonine kinase 2							33.0	42.0	39.0					11																	1464609		2077	4202	6279	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1464609C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.609C>T	11.37:g.1464609C>T						BRSK2_ENST00000382179.1_Silent_p.G249G|BRSK2_ENST00000526678.1_Silent_p.G203G|BRSK2_ENST00000531197.1_Silent_p.G203G|BRSK2_ENST00000528841.1_Silent_p.G203G|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.G143G|BRSK2_ENST00000308230.5_Silent_p.G203G	p.G203G	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	7	995	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	203			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.609C>T	CCDS58107.1																																																																																				0.716	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		7	12	0	0	0	1	0	7	12				
LATS2	26524	broad.mit.edu	37	13	21557591	21557591	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:21557591C>A	ENST00000382592.4	-	5	2659	c.2254G>T	c.(2254-2256)Gac>Tac	p.D752Y	LATS2_ENST00000542899.1_Missense_Mutation_p.D752Y	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCATCATGTCCCCACCAGGG	0.537																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2254-2256)Gac>Tac		large tumor suppressor kinase 2							169.0	155.0	160.0					13																	21557591		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557591C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2254G>T	13.37:g.21557591C>A	ENSP00000372035:p.Asp752Tyr					LATS2_ENST00000542899.1_Missense_Mutation_p.D752Y	p.D752Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2659	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	752			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2254G>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389132	0.82902	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.10668	2.85;2.85	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.48409	0.1498	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63747	-0.6567	10	0.87932	D	0	.	19.1926	0.93672	0.0:1.0:0.0:0.0	.	752	Q9NRM7	LATS2_HUMAN	Y	752	ENSP00000372035:D752Y;ENSP00000441817:D752Y	ENSP00000372035:D752Y	D	-	1	0	LATS2	20455591	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	7.604000	0.82830	2.767000	0.95098	0.555000	0.69702	GAC		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			40	113	1	0	1.49673e-21	1	1.85511e-21	40	113				
PCDH15	65217	broad.mit.edu	37	10	56089401	56089401	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:56089401G>A	ENST00000320301.6	-	7	1054	c.660C>T	c.(658-660)ctC>ctT	p.L220L	PCDH15_ENST00000361849.3_Silent_p.L220L|PCDH15_ENST00000395446.1_Silent_p.L220L|PCDH15_ENST00000373957.3_Silent_p.L198L|PCDH15_ENST00000395433.1_Silent_p.L198L|PCDH15_ENST00000437009.1_Silent_p.L220L|PCDH15_ENST00000395440.1_Silent_p.L220L|PCDH15_ENST00000373965.2_Silent_p.L220L|PCDH15_ENST00000395430.1_Silent_p.L220L|PCDH15_ENST00000414778.1_Silent_p.L225L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Silent_p.L220L|PCDH15_ENST00000373955.1_Silent_p.L220L|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395445.1_Silent_p.L220L|PCDH15_ENST00000395438.1_Silent_p.L220L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCATAGTTGAGCCTCTTCC	0.313										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(658-660)ctC>ctT		protocadherin-related 15							159.0	157.0	158.0					10																	56089401		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56089401G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.660C>T	10.37:g.56089401G>A		HNSCC(58;0.16)				PCDH15_ENST00000395445.1_Silent_p.L220L|PCDH15_ENST00000395430.1_Silent_p.L220L|PCDH15_ENST00000320301.6_Silent_p.L220L|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000414778.1_Silent_p.L225L|PCDH15_ENST00000395438.1_Silent_p.L220L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.L198L|PCDH15_ENST00000437009.1_Silent_p.L220L|PCDH15_ENST00000395440.1_Silent_p.L220L|PCDH15_ENST00000395433.1_Silent_p.L198L|PCDH15_ENST00000395442.1_Silent_p.L220L|PCDH15_ENST00000361849.3_Silent_p.L220L|PCDH15_ENST00000373955.1_Silent_p.L220L|PCDH15_ENST00000395446.1_Silent_p.L220L	p.L220L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			7	1054	-		Melanoma(3;0.117)|Lung SC(717;0.238)	220			Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.660C>T	CCDS7248.1																																																																																				0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	120	0	0	0	1	0	22	120				
ZNF804A	91752	broad.mit.edu	37	2	185803247	185803247	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:185803247G>T	ENST00000302277.6	+	4	3718	c.3124G>T	c.(3124-3126)Gac>Tac	p.D1042Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1042							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAACCATGACAAATTCAA	0.443																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3124-3126)Gac>Tac		zinc finger protein 804A							74.0	70.0	71.0					2																	185803247		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803247G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3124G>T	2.37:g.185803247G>T	ENSP00000303252:p.Asp1042Tyr						p.D1042Y	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3718	+			1042					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3124G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275315	0.59649	.	.	ENSG00000170396	ENST00000302277	T	0.10005	2.92	5.09	5.09	0.68999	.	0.305472	0.23187	N	0.050946	T	0.23532	0.0569	L	0.52573	1.65	0.43574	D	0.995909	D	0.61080	0.989	P	0.55667	0.781	T	0.00527	-1.1688	10	0.72032	D	0.01	-7.5041	17.4725	0.87649	0.0:0.0:1.0:0.0	.	1042	Q7Z570	Z804A_HUMAN	Y	1042	ENSP00000303252:D1042Y	ENSP00000303252:D1042Y	D	+	1	0	ZNF804A	185511492	1.000000	0.71417	0.494000	0.27515	0.707000	0.40811	7.919000	0.87513	2.354000	0.79902	0.467000	0.42956	GAC		0.443	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		31	74	1	0	3.57733e-08	1	3.88648e-08	31	74				
AGK	55750	broad.mit.edu	37	7	141333736	141333736	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:141333736C>T	ENST00000355413.4	+	10	884	c.624C>T	c.(622-624)ggC>ggT	p.G208G	AGK_ENST00000473247.1_Silent_p.G180G|AGK_ENST00000535825.1_Silent_p.G205G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	208					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAATGACCGGCCTTCGATGGG	0.358																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(622-624)ggC>ggT		acylglycerol kinase							121.0	122.0	122.0					7																	141333736		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141333736C>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.624C>T	7.37:g.141333736C>T						AGK_ENST00000535825.1_Silent_p.G205G|AGK_ENST00000473247.1_Silent_p.G180G	p.G208G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			10	884	+	Melanoma(164;0.0171)		208					Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.624C>T	CCDS5865.1																																																																																				0.358	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		45	115	0	0	0	1	0	45	115				
ATP1A4	480	broad.mit.edu	37	1	160133951	160133951	+	Missense_Mutation	SNP	G	G	A	rs368275981		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:160133951G>A	ENST00000368081.4	+	7	1255	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	262					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGAACCGCCCGGGGTAT	0.527																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(784-786)Gcc>Acc		ATPase, Na+/K+ transporting, alpha 4 polypeptide		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	90.0	93.0		784	4.5	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1A4	NM_144699.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	262/1030	160133951	2,13004	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160133951G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.784G>A	1.37:g.160133951G>A	ENSP00000357060:p.Ala262Thr						p.A262T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1255	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		262					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.784G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691235	0.68271	2.27E-4	1.16E-4	ENSG00000132681	ENST00000368081	D	0.91521	-2.86	4.54	4.54	0.55810	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.113755	0.64402	D	0.000018	D	0.96485	0.8853	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.97362	0.9970	10	0.87932	D	0	.	15.1903	0.73038	0.0:0.0:1.0:0.0	.	262	Q13733	AT1A4_HUMAN	T	262	ENSP00000357060:A262T	ENSP00000357060:A262T	A	+	1	0	ATP1A4	158400575	1.000000	0.71417	0.999000	0.59377	0.084000	0.17831	9.601000	0.98297	2.512000	0.84698	0.655000	0.94253	GCC		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		10	87	0	0	0	1	0	10	87				
CEP41	95681	broad.mit.edu	37	7	130038748	130038748	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:130038748C>T	ENST00000223208.5	-	11	1376	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CEP41_ENST00000343969.5_Missense_Mutation_p.G297D|CEP41_ENST00000541543.1_Missense_Mutation_p.G281D	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	369					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)											CCAGGGTTTGCCTTGCAGGTG	0.542																																						ENST00000223208.4																			0											c.(1105-1107)gGc>gAc		centrosomal protein 41kDa							144.0	164.0	157.0					7																	130038748		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038748C>T	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.1106G>A	7.37:g.130038748C>T	ENSP00000223208:p.Gly369Asp					CEP41_ENST00000343969.5_Missense_Mutation_p.G297D|CEP41_ENST00000541543.1_Missense_Mutation_p.G281D	p.G369D	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			11	1376	-			369					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.1106G>A	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	6.069	0.380956	0.11466	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.88664	-2.41;-2.07;-2.4	5.93	4.09	0.47781	.	0.345876	0.32273	N	0.006336	D	0.83617	0.5293	L	0.44542	1.39	0.27100	N	0.962642	B;B;B	0.31680	0.253;0.253;0.335	B;B;B	0.36244	0.22;0.22;0.058	T	0.75271	-0.3376	10	0.39692	T	0.17	-13.6433	6.7368	0.23413	0.177:0.7357:0.0:0.0873	.	281;297;369	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	D	369;281;297	ENSP00000223208:G369D;ENSP00000445888:G281D;ENSP00000342738:G297D	ENSP00000223208:G369D	G	-	2	0	TSGA14	129825984	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.197000	0.32211	1.452000	0.47756	0.655000	0.94253	GGC		0.542	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		44	223	0	0	0	1	0	44	223				
CHST15	51363	broad.mit.edu	37	10	125805547	125805547	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:125805547C>G	ENST00000346248.5	-	2	824	c.182G>C	c.(181-183)aGg>aCg	p.R61T	CHST15_ENST00000435907.1_Missense_Mutation_p.R61T|CHST15_ENST00000421115.1_Missense_Mutation_p.R61T|CHST15_ENST00000462406.1_5'UTR	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	61					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCTTCAGTCCTCACTTCGAG	0.478																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(181-183)aGg>aCg		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							85.0	75.0	78.0					10																	125805547		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805547C>G	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.182G>C	10.37:g.125805547C>G	ENSP00000333947:p.Arg61Thr					CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Missense_Mutation_p.R61T|CHST15_ENST00000421115.1_Missense_Mutation_p.R61T	p.R61T	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	824	-			61					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.182G>C	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162306	0.78226	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.170100	0.52532	D	0.000071	T	0.47303	0.1438	N	0.19112	0.55	0.37942	D	0.932379	D;P	0.56035	0.974;0.956	P;B	0.50659	0.647;0.366	T	0.57797	-0.7749	9	0.87932	D	0	-33.6323	12.4941	0.55918	0.0:0.9236:0.0:0.0764	.	61;61	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	T	61	.	ENSP00000333947:R61T	R	-	2	0	CHST15	125795537	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.974000	0.49272	1.400000	0.46741	0.561000	0.74099	AGG		0.478	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		24	53	0	0	0	1	0	24	53				
TP53	7157	broad.mit.edu	37	17	7577109	7577109	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7577109A>C	ENST00000269305.4	-	8	1018	c.829T>G	c.(829-831)Tgt>Ggt	p.C277G	TP53_ENST00000455263.2_Missense_Mutation_p.C277G|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C277G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C277G|TP53_ENST00000359597.4_Missense_Mutation_p.C277G	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.0?(8)|p.C277G(5)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277R(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CTCCCAGGACAGGCACAAACA	0.552		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"""		32	Whole gene deletion(8)|Deletion - In frame(7)|Substitution - Missense(6)|Deletion - Frameshift(5)|Insertion - Frameshift(2)|Unknown(2)|Complex - frameshift(2)	p.0?(8)|p.C277G(5)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277R(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(4)|breast(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|oesophagus(1)|lung(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(829-831)Tgt>Ggt	Other conserved DNA damage response genes	tumor protein p53							71.0	62.0	65.0					17																	7577109		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.chr17:7577109A>C	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.829T>G	17.37:g.7577109A>C	ENSP00000269305:p.Cys277Gly	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_ENST00000455263.2_Missense_Mutation_p.C277G|TP53_ENST00000359597.4_Missense_Mutation_p.C277G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277G|TP53_ENST00000445888.2_Missense_Mutation_p.C277G	p.C277G	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)	8	961	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|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.829T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731358	0.69189	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.13	2.86	0.33363	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	N	0.000000	D	0.99757	0.9902	M	0.81802	2.56	0.58432	D	0.999994	B;D;P;B	0.89917	0.335;1.0;0.758;0.216	P;D;P;P	0.79784	0.564;0.993;0.686;0.5	D	0.98638	1.0674	10	0.87932	D	0	-10.0792	6.9374	0.24474	0.6962:0.1553:0.0:0.1485	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	277;277;277;277;277;266;145	ENSP00000352610:C277G;ENSP00000269305:C277G;ENSP00000398846:C277G;ENSP00000391127:C277G;ENSP00000391478:C277G;ENSP00000425104:C145G	ENSP00000269305:C277G	C	-	1	0	TP53	7517834	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.060000	0.93907	0.387000	0.25024	0.379000	0.24179	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	15	0	0	0	1	0	15	15				
ABCC8	6833	broad.mit.edu	37	11	17414551	17414551	+	Missense_Mutation	SNP	C	C	T	rs143557848		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:17414551C>T	ENST00000389817.3	-	39	4801	c.4733G>A	c.(4732-4734)cGt>cAt	p.R1578H	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1579H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1578	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTTGTCTGCACGGACGAAGGA	0.552																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4735-4737)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	C	HIS/ARG	0,4400		0,0,2200	110.0	94.0	100.0		4733	5.4	0.9	11	dbSNP_134	100	2,8584	2.2+/-6.3	0,2,4291	no	missense	ABCC8	NM_000352.3	29	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	benign	1578/1582	17414551	2,12984	2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17414551C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4733G>A	11.37:g.17414551C>T	ENSP00000374467:p.Arg1578His					ABCC8_ENST00000389817.3_Missense_Mutation_p.R1578H	p.R1579H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	39	4861	-			1578					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4736G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623814	0.87460	0.0	2.33E-4	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.92199	-2.99;-2.99	5.37	5.37	0.77165	ABC transporter-like (1);	0.066698	0.56097	D	0.000024	D	0.88665	0.6498	N	0.24115	0.695	0.40928	D	0.984368	D	0.54397	0.966	P	0.49999	0.628	D	0.89438	0.3721	10	0.66056	D	0.02	.	10.29	0.43590	0.0:0.8787:0.0:0.1213	.	1578	Q09428	ABCC8_HUMAN	H	1578;1579	ENSP00000374467:R1578H;ENSP00000303960:R1579H	ENSP00000303960:R1579H	R	-	2	0	ABCC8	17371127	0.792000	0.28813	0.949000	0.38748	0.998000	0.95712	1.380000	0.34351	2.513000	0.84729	0.561000	0.74099	CGT		0.552	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		9	88	0	0	0	1	0	9	88				
RNF180	285671	broad.mit.edu	37	5	63509890	63509890	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr5:63509890A>T	ENST00000389100.4	+	4	809	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Y246F	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	246					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCCACTTTATATGAAATACAT	0.373																																						ENST00000389100.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(736-738)tAt>tTt		ring finger protein 180							76.0	84.0	81.0					5																	63509890		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509890A>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.737A>T	5.37:g.63509890A>T	ENSP00000373752:p.Tyr246Phe					RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Y246F	p.Y246F	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	809	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	246					Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.737A>T	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	A	4.558	0.103596	0.08731	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.42131	0.98	6.08	3.6	0.41247	.	0.405503	0.25616	N	0.029457	T	0.22898	0.0553	L	0.45137	1.4	0.80722	D	1	B;B	0.32753	0.126;0.383	B;B	0.26094	0.015;0.066	T	0.07888	-1.0749	10	0.08381	T	0.77	-8.5946	1.3756	0.02219	0.4716:0.2455:0.1515:0.1314	.	246;246	Q86T96;Q86T96-2	RN180_HUMAN;.	F	246	ENSP00000373752:Y246F	ENSP00000296615:Y246F	Y	+	2	0	RNF180	63545646	0.952000	0.32445	0.985000	0.45067	0.991000	0.79684	0.150000	0.16263	1.130000	0.42092	0.533000	0.62120	TAT		0.373	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		26	76	0	0	0	1	0	26	76				
FBXL3	26224	broad.mit.edu	37	13	77581837	77581837	+	Silent	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:77581837A>G	ENST00000355619.5	-	5	1054	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	244					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCAGAAGACAATGCAAGTAAC	0.403																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(730-732)Ttg>Ctg		F-box and leucine-rich repeat protein 3							98.0	94.0	95.0					13																	77581837		2203	4300	6503	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581837A>G	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.730T>C	13.37:g.77581837A>G						FBXL3_ENST00000477982.1_Intron	p.L244L	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1054	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	244					B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.730T>C	CCDS9457.1																																																																																				0.403	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			26	52	0	0	0	1	0	26	52				
ROPN1	54763	broad.mit.edu	37	3	123689003	123689003	+	Missense_Mutation	SNP	G	G	A	rs140868038		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433																																						ENST00000184183.4																			1	Substitution - Missense(1)	p.S153L(1)	skin(1)	lung(2)|ovary(1)|skin(1)	4						c.(457-459)tCg>tTg		rhophilin associated tail protein 1							144.0	128.0	133.0					3																	123689003		2203	4300	6503	SO:0001583	missense	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123689003G>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.458C>T	3.37:g.123689003G>A	ENSP00000184183:p.Ser153Leu					ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	6	798	-			153					D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	c.458C>T	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576882	0.13686	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.25749	1.78;1.78	4.84	3.06	0.35304	.	0.263021	0.28515	N	0.015079	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03641	-1.1017	10	0.44086	T	0.13	0.0093	11.6213	0.51119	0.0981:0.0:0.9019:0.0	.	153	Q9HAT0	ROP1A_HUMAN	L	153	ENSP00000184183:S153L;ENSP00000385919:S153L	ENSP00000184183:S153L	S	-	2	0	ROPN1	125171693	1.000000	0.71417	0.463000	0.27130	0.000000	0.00434	2.704000	0.47118	0.600000	0.29862	-0.921000	0.02739	TCG		0.433	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		8	90	0	0	0	1	0	8	90				
ANKZF1	55139	broad.mit.edu	37	2	220099691	220099691	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:220099691C>A	ENST00000323348.5	+	10	1522	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q240K|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q450K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	450						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCGAGACCAGGAGGCTGG	0.542																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1348-1350)Cag>Aag		ankyrin repeat and zinc finger domain containing 1							53.0	60.0	58.0					2																	220099691		2062	4192	6254	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220099691C>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1348C>A	2.37:g.220099691C>A	ENSP00000321617:p.Gln450Lys					ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q450K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q240K	p.Q450K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1522	+		Renal(207;0.0474)	450					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1348C>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.359398	0.01245	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.23950	1.88;2.07;1.88	5.41	3.49	0.39957	.	1.334980	0.04422	N	0.367791	T	0.17195	0.0413	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.28170	-1.0052	10	0.06099	T	0.92	-0.4643	7.4231	0.27083	0.2868:0.4719:0.2413:0.0	.	450	Q9H8Y5	ANKZ1_HUMAN	K	450;240;450	ENSP00000321617:Q450K;ENSP00000386815:Q240K;ENSP00000386337:Q450K	ENSP00000321617:Q450K	Q	+	1	0	ANKZF1	219807935	0.076000	0.21285	0.200000	0.23457	0.116000	0.19942	0.363000	0.20301	1.452000	0.47756	0.591000	0.81541	CAG		0.542	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		9	36	1	0	2.17888e-05	1	2.28263e-05	9	36				
LRRK2	120892	broad.mit.edu	37	12	40702283	40702283	+	Missense_Mutation	SNP	G	G	A	rs72546338	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:40702283G>A	ENST00000298910.7	+	29	4032	c.3974G>A	c.(3973-3975)cGa>cAa	p.R1325Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1325					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTCAACAGCGATTAAAAAAG	0.318																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	GRCh37	CM081326	LRRK2	M	rs72546338	c.(3973-3975)cGa>cAa		leucine-rich repeat kinase 2		G	GLN/ARG	0,4406		0,0,2203	45.0	46.0	46.0		3974	5.6	1.0	12	dbSNP_130	46	3,8595	2.2+/-6.3	0,3,4296	yes	missense	LRRK2	NM_198578.3	43	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1325/2528	40702283	3,13001	2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40702283G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3974G>A	12.37:g.40702283G>A	ENSP00000298910:p.Arg1325Gln						p.R1325Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			29	4032	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1325					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3974G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429116	0.83667	0.0	3.49E-4	ENSG00000188906	ENST00000298910	T	0.71698	-0.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.977;0.983	T	0.74156	-0.3756	10	0.30854	T	0.27	.	19.5134	0.95153	0.0:0.0:1.0:0.0	.	1325;1325	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1325	ENSP00000298910:R1325Q	ENSP00000298910:R1325Q	R	+	2	0	LRRK2	38988550	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	9.165000	0.94761	2.600000	0.87896	0.585000	0.79938	CGA		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	30	0	0	0	1	0	5	30				
CHMP2B	25978	broad.mit.edu	37	3	87289861	87289861	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:87289861A>T	ENST00000263780.4	+	2	285	c.47A>T	c.(46-48)gAa>gTa	p.E16V	CHMP2B_ENST00000494980.1_Missense_Mutation_p.E16V|CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	16					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTAATAAAGGAACAGAATCGA	0.328																																						ENST00000263780.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(46-48)gAa>gTa		charged multivesicular body protein 2B							91.0	93.0	92.0					3																	87289861		2203	4300	6503	SO:0001583	missense	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87289861A>T	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.47A>T	3.37:g.87289861A>T	ENSP00000263780:p.Glu16Val					CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.E16V|CHMP2B_ENST00000472024.1_3'UTR	p.E16V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	285	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	16					B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	c.47A>T	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415152	0.83449	.	.	ENSG00000083937	ENST00000263780;ENST00000494980	T;T	0.75367	-0.93;-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.86178	2.8	0.80722	D	1	P	0.41131	0.739	P	0.48114	0.567	D	0.85771	0.1355	10	0.72032	D	0.01	-0.5184	15.5659	0.76290	1.0:0.0:0.0:0.0	.	16	Q9UQN3	CHM2B_HUMAN	V	16	ENSP00000263780:E16V;ENSP00000418920:E16V	ENSP00000263780:E16V	E	+	2	0	CHMP2B	87372551	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	8.473000	0.90410	2.057000	0.61298	0.528000	0.53228	GAA		0.328	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		30	36	0	0	0	1	0	30	36				
OR6C68	403284	broad.mit.edu	37	12	55886852	55886852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:55886852C>T	ENST00000548615.1	+	1	691	c.691C>T	c.(691-693)Caa>Taa	p.Q231*	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Nonsense_Mutation_p.Q236*|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	231						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(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTGTTCAACAAAAGAAAAA	0.353																																						ENST00000379662.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(706-708)Caa>Taa		olfactory receptor, family 6, subfamily C, member 68							80.0	76.0	77.0					12																	55886852		2203	4300	6503	SO:0001587	stop_gained	403284				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55886852C>T		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.691C>T	12.37:g.55886852C>T	ENSP00000448811:p.Gln231*					OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q231*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.Q236*			A6NDL8	O6C68_HUMAN			1	706	+			231						Nonsense_Mutation	SNP	ENST00000548615.1	37	c.706C>T	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927944	0.92389	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	.	.	.	5.3	4.35	0.52113	.	0.000000	0.46145	D	0.000312	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.1429	0.59444	0.0:0.6729:0.3271:0.0	.	.	.	.	X	236;231	.	ENSP00000368983:Q236X	Q	+	1	0	OR6C68	54173119	0.003000	0.15002	0.622000	0.29159	0.909000	0.53808	0.227000	0.17795	2.648000	0.89879	0.603000	0.83216	CAA		0.353	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			10	39	0	0	0	1	0	10	39				
SRCAP	10847	broad.mit.edu	37	16	30732114	30732114	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:30732114C>G	ENST00000262518.4	+	20	3453	c.3068C>G	c.(3067-3069)cCa>cGa	p.P1023R	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1023R|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1023R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1023	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCCTGTCCCAGTTCGACCT	0.612																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3067-3069)cCa>cGa		Snf2-related CREBBP activator protein							59.0	66.0	64.0					16																	30732114		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732114C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3068C>G	16.37:g.30732114C>G	ENSP00000262518:p.Pro1023Arg					SRCAP_ENST00000344771.4_Missense_Mutation_p.P1023R|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1023R	p.P1023R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		20	3453	+			1023			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3068C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037574	0.35989	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90620	-2.7;-2.65;-2.6	5.25	5.25	0.73442	.	0.130056	0.35495	N	0.003167	D	0.89458	0.6721	N	0.14661	0.345	0.33501	D	0.589892	P;D;D	0.67145	0.928;0.996;0.993	P;P;P	0.62813	0.734;0.907;0.809	D	0.88177	0.2868	10	0.18276	T	0.48	-5.1098	17.7693	0.88487	0.0:1.0:0.0:0.0	.	1023;1023;1023	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1023	ENSP00000262518:P1023R;ENSP00000378499:P1023R;ENSP00000343042:P1023R	ENSP00000262518:P1023R	P	+	2	0	SRCAP	30639615	1.000000	0.71417	0.891000	0.34965	0.438000	0.31896	4.547000	0.60712	2.729000	0.93468	0.557000	0.71058	CCA		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		42	69	0	0	0	1	0	42	69				
TTN	7273	broad.mit.edu	37	2	179434641	179434641	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:179434641T>C	ENST00000591111.1	-	276	71519	c.71295A>G	c.(71293-71295)ccA>ccG	p.P23765P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P16533P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P16466P|TTN_ENST00000460472.2_Silent_p.P16341P|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.P22838P|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.P25406P|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23765					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGGGTCCTGGTTTATAAA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76216-76218)ccA>ccG		titin							128.0	119.0	122.0					2																	179434641		1840	4096	5936	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434641T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71295A>G	2.37:g.179434641T>C						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P23765P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P16341P|TTN_ENST00000359218.5_Silent_p.P16466P|TTN_ENST00000342992.6_Silent_p.P22838P|TTN_ENST00000342175.6_Silent_p.P16533P|TTN-AS1_ENST00000586452.1_RNA	p.P25406P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76442	-			23765			Fibronectin type-III 84.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.76218A>G																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	39	0	0	0	1	0	10	39				
CSMD3	114788	broad.mit.edu	37	8	113563056	113563056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr8:113563056G>A	ENST00000297405.5	-	27	4652	c.4408C>T	c.(4408-4410)Cga>Tga	p.R1470*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1470*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1366*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1430*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1470	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCAGACTCGGAGTATATCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4408-4410)Cga>Tga		CUB and Sushi multiple domains 3							71.0	68.0	69.0					8																	113563056		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113563056G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4408C>T	8.37:g.113563056G>A	ENSP00000297405:p.Arg1470*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1366*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1430*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1470*	p.R1470*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			27	4652	-			1470			CUB 8.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.4408C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	45	11.648884	0.99587	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.22	4.22	0.49857	.	0.097964	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	17.1136	0.86682	0.0:0.0:1.0:0.0	.	.	.	.	X	1430;1470;810;1366;1470	.	ENSP00000297405:R1470X	R	-	1	2	CSMD3	113632232	0.980000	0.34600	1.000000	0.80357	0.887000	0.51463	1.810000	0.38932	2.342000	0.79632	0.491000	0.48974	CGA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	43	0	0	0	1	0	16	43				
BARD1	580	broad.mit.edu	37	2	215593641	215593641	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:215593641C>T	ENST00000260947.4	-	11	2227	c.2093G>A	c.(2092-2094)gGt>gAt	p.G698D	BARD1_ENST00000449967.2_Missense_Mutation_p.V553M|BARD1_ENST00000432456.1_Missense_Mutation_p.G69D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	698	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGCCCCCACCTGCAGTGAC	0.488									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2092-2094)gGt>gAt		BRCA1 associated RING domain 1							135.0	107.0	116.0					2																	215593641		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215593641C>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2093G>A	2.37:g.215593641C>T	ENSP00000260947:p.Gly698Asp					BARD1_ENST00000432456.1_Missense_Mutation_p.G69D|BARD1_ENST00000449967.2_Missense_Mutation_p.V553M	p.G698D	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	2227	-		Renal(323;0.0243)	698			BRCT 2.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.2093G>A	CCDS2397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221250|3.221250	0.58560|0.58560	.|.	.|.	ENSG00000138376|ENSG00000138376	ENST00000260947;ENST00000432456|ENST00000449967	T;T|T	0.79247|0.65732	2.73;-1.25|-0.17	5.81|5.81	2.98|2.98	0.34508|0.34508	BRCT (3);|.	0.270877|.	0.34932|.	N|.	0.003575|.	T|T	0.61009|0.61009	0.2313|0.2313	M|M	0.66939|0.66939	2.045|2.045	0.32306|0.32306	N|N	0.564396|0.564396	D|P	0.56746|0.34997	0.977|0.479	P|B	0.50590|0.24701	0.645|0.055	T|T	0.67616|0.67616	-0.5625|-0.5625	10|9	0.72032|0.72032	D|D	0.01|0.01	-5.5205|-5.5205	19.6328|19.6328	0.95718|0.95718	0.0:0.541:0.459:0.0|0.0:0.541:0.459:0.0	.|.	698|553	Q99728|E7EUI3	BARD1_HUMAN|.	D|M	698;69|553	ENSP00000260947:G698D;ENSP00000405020:G69D|ENSP00000406752:V553M	ENSP00000260947:G698D|ENSP00000406752:V553M	G|V	-|-	2|1	0|0	BARD1|BARD1	215301886|215301886	0.879000|0.879000	0.30193|0.30193	0.785000|0.785000	0.31869|0.31869	0.937000|0.937000	0.57800|0.57800	1.482000|1.482000	0.35486|0.35486	0.345000|0.345000	0.23873|0.23873	-0.340000|-0.340000	0.08031|0.08031	GGT|GTG		0.488	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		11	43	0	0	0	1	0	11	43				
CRYBA4	1413	broad.mit.edu	37	22	27019213	27019213	+	Missense_Mutation	SNP	G	G	A	rs148346157		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr22:27019213G>A	ENST00000354760.3	+	3	90	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	19	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGTGTGGGATGAGGACGGCTT	0.607																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(55-57)Gag>Aag		crystallin, beta A4		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	90.0	101.0	97.0		55	0.9	0.6	22	dbSNP_134	97	0,8600		0,0,4300	no	missense	CRYBA4	NM_001886.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	19/197	27019213	1,13005	2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27019213G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.55G>A	22.37:g.27019213G>A	ENSP00000346805:p.Glu19Lys					CRYBA4_ENST00000466315.1_Intron	p.E19K	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			3	90	+			19			Beta/gamma crystallin 'Greek key' 1.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.55G>A	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873576	0.72180	2.27E-4	0.0	ENSG00000196431	ENST00000354760	T	0.75704	-0.96	4.44	0.866	0.19079	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.122258	0.52532	D	0.000065	T	0.78329	0.4266	L	0.28458	0.855	0.52099	D	0.999943	B	0.25904	0.137	P	0.53518	0.728	T	0.78489	-0.2184	10	0.66056	D	0.02	.	13.7243	0.62748	0.0:0.4589:0.5411:0.0	.	19	P53673	CRBA4_HUMAN	K	19	ENSP00000346805:E19K	ENSP00000346805:E19K	E	+	1	0	CRYBA4	25349213	0.922000	0.31269	0.554000	0.28268	0.980000	0.70556	1.242000	0.32755	0.486000	0.27676	-0.156000	0.13503	GAG		0.607	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		6	113	0	0	0	1	0	6	113				
FAM155A	728215	broad.mit.edu	37	13	108518299	108518299	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:108518299A>C	ENST00000375915.2	-	1	784	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	216						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GACAAGTTCCAGAGCGGAGTG	0.582																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(646-648)Tgg>Ggg		family with sequence similarity 155, member A							83.0	93.0	90.0					13																	108518299		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518299A>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.646T>G	13.37:g.108518299A>C	ENSP00000365080:p.Trp216Gly						p.W216G	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	784	-			216					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.646T>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	9.564	1.119315	0.20877	.	.	ENSG00000204442	ENST00000375915	T	0.10573	2.86	5.03	3.83	0.44106	.	0.342537	0.28161	N	0.016370	T	0.06234	0.0161	N	0.08118	0	0.33358	D	0.572019	B	0.14012	0.009	B	0.13407	0.009	T	0.06807	-1.0806	10	0.72032	D	0.01	.	10.5552	0.45112	0.8377:0.1623:0.0:0.0	.	216	B1AL88	F155A_HUMAN	G	216	ENSP00000365080:W216G	ENSP00000365080:W216G	W	-	1	0	FAM155A	107316300	1.000000	0.71417	0.950000	0.38849	0.196000	0.23810	3.696000	0.54757	0.986000	0.38683	-0.313000	0.08912	TGG		0.582	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		32	107	0	0	0	1	0	32	107				
SEPT11	55752	broad.mit.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438																																						ENST00000264893.6																			1	Substitution - Missense(1)	p.A226T(1)	large_intestine(1)	endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(676-678)Gca>Aca		septin 11							127.0	115.0	119.0					4																	77936159		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77936159G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.676G>A	4.37:g.77936159G>A	ENSP00000264893:p.Ala226Thr					SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T	p.A226T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN			5	877	+			226					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.676G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846765	0.32606	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.36110	0.0955	N	0.17901	0.54	0.47994	D	0.999564	B;B;B	0.27316	0.145;0.015;0.175	B;B;B	0.21708	0.021;0.013;0.036	T	0.09015	-1.0694	10	0.25106	T	0.35	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	236;218;226	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	T	226;226;218;226;236;236	ENSP00000264893:A226T;ENSP00000426344:A226T;ENSP00000420839:A218T;ENSP00000424925:A226T;ENSP00000422896:A236T;ENSP00000443701:A236T	ENSP00000264893:A226T	A	+	1	0	SEPT11	78155183	1.000000	0.71417	0.381000	0.26106	0.006000	0.05464	4.064000	0.57506	2.687000	0.91594	0.655000	0.94253	GCA		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		18	79	0	0	0	1	0	18	79				
WAPAL	23063	broad.mit.edu	37	10	88259531	88259531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:88259531G>A	ENST00000298767.5	-	3	1941	c.1469C>T	c.(1468-1470)cCt>cTt	p.P490L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	490	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGGGGGAGGCTGCAAGGA	0.393																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(1468-1470)cCt>cTt		wings apart-like homolog (Drosophila)							160.0	149.0	153.0					10																	88259531		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259531G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1469C>T	10.37:g.88259531G>A	ENSP00000298767:p.Pro490Leu						p.P490L	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1941	-			490			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1469C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504253	0.64410	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.45276	0.9	5.44	4.54	0.55810	.	0.313592	0.31601	N	0.007370	T	0.36193	0.0958	L	0.40543	1.245	0.80722	D	1	P;P;P	0.42692	0.455;0.455;0.787	B;B;B	0.39379	0.111;0.111;0.298	T	0.23226	-1.0194	10	0.54805	T	0.06	.	14.1529	0.65398	0.0723:0.0:0.9277:0.0	.	490;490;533	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	L	575;490;575	ENSP00000298767:P490L	ENSP00000298767:P490L	P	-	2	0	WAPAL	88249511	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.778000	0.75043	1.309000	0.44985	-0.136000	0.14681	CCT		0.393	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		29	68	0	0	0	1	0	29	68				
CSHL1	1444	broad.mit.edu	37	17	61987405	61987405	+	Intron	SNP	A	A	T	rs2006122	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:61987405A>T	ENST00000309894.5	-	4	471				CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Silent_p.P102P|CSHL1_ENST00000346606.6_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ATGAAGAATAAGGTGAGTTCT	0.547													A|||	987	0.197085	0.2731	0.196	5008	,	,		19953	0.0794		0.2624	False		,,,				2504	0.1493					ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(304-306)ccT>ccA		chorionic somatomammotropin hormone-like 1																																				SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987405A>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.471+116T>A	17.37:g.61987405A>T						CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron	p.P102P			Q14406	CSHL_HUMAN			3	543	-			0					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.306T>A	CCDS11652.1																																																																																				0.547	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		8	129	0	0	0	1	0	8	129				
FAM86JP	100125556	broad.mit.edu	37	3	125643915	125643915	+	RNA	SNP	T	T	C	rs79335314	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:125643915T>C	ENST00000485843.1	+	0	439					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		TGGCCTTTACTGTCCGCAACC	0.652													.|||	309	0.0617013	0.0953	0.0476	5008	,	,		15476	0.0913		0.0149	False		,,,				2504	0.044					ENST00000485843.1																			0																																																			100125556							g.chr3:125643915T>C			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125643915T>C								NR_024251.1						0	439	+									RNA	SNP	ENST00000485843.1	37																																																																																						0.652	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		5	87	0	0	0	1	0	5	87				
GPT2	84706	broad.mit.edu	37	16	46960923	46960923	+	Silent	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr16:46960923G>A	ENST00000340124.4	+	11	1567	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	GPT2_ENST00000440783.2_Silent_p.G385G	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	485					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GTGGCTTTGGGCAGAGGGAAG	0.562																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(1153-1155)ggG>ggA		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						113.0	101.0	105.0					16																	46960923		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46960923G>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1455G>A	16.37:g.46960923G>A						GPT2_ENST00000340124.4_Silent_p.G485G	p.G385G	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			11	1820	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	485					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.1155G>A	CCDS10725.1																																																																																				0.562	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			31	77	0	0	0	1	0	31	77				
FRAS1	80144	broad.mit.edu	37	4	79284755	79284755	+	Silent	SNP	G	G	T	rs147300670		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:79284755G>T	ENST00000325942.6	+	21	2951	c.2511G>T	c.(2509-2511)ctG>ctT	p.L837L	FRAS1_ENST00000264895.6_Silent_p.L837L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	837					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTACCTGCTGCTCGGGGACC	0.567																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2509-2511)ctG>ctT		Fraser syndrome 1							43.0	43.0	43.0					4																	79284755		2076	4215	6291	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79284755G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2511G>T	4.37:g.79284755G>T						FRAS1_ENST00000325942.6_Silent_p.L837L	p.L837L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			21	2951	+			837					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.2511G>T	CCDS54772.1																																																																																				0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			5	14	1	0	0.014758	1	0.0148423	5	14				
FSTL5	56884	broad.mit.edu	37	4	162307341	162307341	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr4:162307341G>T	ENST00000306100.5	-	16	2538	c.2102C>A	c.(2101-2103)cCa>cAa	p.P701Q	FSTL5_ENST00000379164.4_Missense_Mutation_p.P700Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.P691Q|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	701						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTGGCCATCTGGAGAGACATA	0.468																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2101-2103)cCa>cAa		follistatin-like 5							120.0	111.0	114.0					4																	162307341		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307341G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2102C>A	4.37:g.162307341G>T	ENSP00000305334:p.Pro701Gln					FSTL5_ENST00000427802.2_Missense_Mutation_p.P691Q|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700Q	p.P701Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2538	-	all_hematologic(180;0.24)		701					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2102C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305292	0.81247	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.66264	-0.5967	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	691;700;701	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	701;700;691;700	ENSP00000305334:P701Q;ENSP00000368462:P700Q;ENSP00000389270:P691Q;ENSP00000440409:P700Q	ENSP00000305334:P701Q	P	-	2	0	FSTL5	162526791	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.242000	0.95408	2.614000	0.88457	0.655000	0.94253	CCA		0.468	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		29	46	1	0	1.68575e-08	1	1.85433e-08	29	46				
PARD3	56288	broad.mit.edu	37	10	34558645	34558645	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr10:34558645A>G	ENST00000374789.3	-	22	3693	c.3368T>C	c.(3367-3369)aTg>aCg	p.M1123T	PARD3_ENST00000350537.4_Missense_Mutation_p.M1077T|PARD3_ENST00000346874.4_Missense_Mutation_p.M1086T|PARD3_ENST00000545693.1_Missense_Mutation_p.M1107T|PARD3_ENST00000374788.3_Missense_Mutation_p.M1120T|PARD3_ENST00000374794.3_Missense_Mutation_p.M1011T|PARD3_ENST00000374790.3_Missense_Mutation_p.M1063T|PARD3_ENST00000545260.1_Missense_Mutation_p.M1033T|PARD3_ENST00000466092.1_5'Flank	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1123					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAAAGCATCCATCATATGCCC	0.498																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3367-3369)aTg>aCg		par-3 family cell polarity regulator							102.0	88.0	93.0					10																	34558645		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34558645A>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3368T>C	10.37:g.34558645A>G	ENSP00000363921:p.Met1123Thr					PARD3_ENST00000545260.1_Missense_Mutation_p.M1033T|PARD3_ENST00000350537.4_Missense_Mutation_p.M1077T|PARD3_ENST00000374790.3_Missense_Mutation_p.M1063T|PARD3_ENST00000374788.3_Missense_Mutation_p.M1120T|PARD3_ENST00000346874.4_Missense_Mutation_p.M1086T|PARD3_ENST00000374794.3_Missense_Mutation_p.M1011T|PARD3_ENST00000545693.1_Missense_Mutation_p.M1107T	p.M1123T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			22	3693	-		Breast(68;0.0707)	1123					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3368T>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860659	0.32884	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.12361	2.71;2.69;2.76;2.76;2.75;2.7;2.71;2.7	5.78	4.63	0.57726	.	0.425026	0.30658	N	0.009153	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.0	T	0.37244	-0.9714	10	0.18276	T	0.48	.	6.3661	0.21455	0.726:0.1395:0.1345:0.0	.	1011;1033;1040;1077;1107;1086;1120;1123	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	T	1107;1033;1123;1120;1086;1011;1077;1063	ENSP00000443147:M1107T;ENSP00000440857:M1033T;ENSP00000363921:M1123T;ENSP00000363920:M1120T;ENSP00000340591:M1086T;ENSP00000363926:M1011T;ENSP00000311986:M1077T;ENSP00000363922:M1063T	ENSP00000340591:M1086T	M	-	2	0	PARD3	34598651	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.634000	0.46528	2.333000	0.79357	0.482000	0.46254	ATG		0.498	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		15	46	0	0	0	1	0	15	46				
NDUFA9	4704	broad.mit.edu	37	12	4796104	4796104	+	Splice_Site	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr12:4796104A>G	ENST00000266544.5	+	11	984	c.964A>G	c.(964-966)Atg>Gtg	p.M322V	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Splice_Site_p.M81V	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	322					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)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TTATCCAAAGATGCACATCAC	0.478																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.e11-1		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						80.0	66.0	71.0					12																	4796104		2203	4300	6503	SO:0001630	splice_region_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4796104A>G	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.964-1A>G	12.37:g.4796104A>G						NDUFA9_ENST00000540688.1_Splice_Site_p.M81_splice|RP11-234B24.6_ENST00000544741.2_Intron	p.M322_splice	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			11	984	+			322					Q14076|Q2NKX0	Splice_Site	SNP	ENST00000266544.5	37	c.963_splice	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	6.171	0.399784	0.11696	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	T;T	0.77877	-1.13;-1.02	5.05	-4.99	0.03010	.	0.479353	0.24296	N	0.039776	T	0.58949	0.2158	L	0.47190	1.495	0.20074	N	0.999933	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	9	.	.	.	-7.5853	3.0078	0.06034	0.5423:0.1987:0.0908:0.1682	.	322	Q16795	NDUA9_HUMAN	V	322;81	ENSP00000266544:M322V;ENSP00000439818:M81V	.	M	+	1	0	NDUFA9	4666365	1.000000	0.71417	0.163000	0.22734	0.366000	0.29705	1.646000	0.37249	-0.749000	0.04747	-0.313000	0.08912	ATG		0.478	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002	Missense_Mutation	11	10	0	0	0	1	0	11	10				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		12	28	1	0	9.31168e-06	1	9.81351e-06	12	28				
CXorf66	347487	broad.mit.edu	37	X	139038215	139038215	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:139038215G>T	ENST00000370540.1	-	3	949	c.926C>A	c.(925-927)tCc>tAc	p.S309Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	309						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTTACGAAAGGACCTGGAAGA	0.378																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(925-927)tCc>tAc		chromosome X open reading frame 66							204.0	176.0	186.0					X																	139038215		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038215G>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.926C>A	X.37:g.139038215G>T	ENSP00000359571:p.Ser309Tyr						p.S309Y	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	949	-			309						Missense_Mutation	SNP	ENST00000370540.1	37	c.926C>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515245	0.27123	.	.	ENSG00000203933	ENST00000370540	T	0.50813	0.73	3.19	0.424	0.16468	.	0.564613	0.14968	N	0.287979	T	0.42607	0.1210	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.60286	0.872	T	0.24012	-1.0172	9	.	.	.	0.8754	5.2743	0.15641	0.4305:0.0:0.5695:0.0	.	309	Q5JRM2	CX066_HUMAN	Y	309	ENSP00000359571:S309Y	.	S	-	2	0	CXorf66	138865881	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.280000	0.18790	-0.029000	0.13827	0.589000	0.80489	TCC		0.378	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		54	37	1	0	9.52127e-25	1	1.18847e-24	54	37				
ERBB4	2066	broad.mit.edu	37	2	212251760	212251760	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:212251760T>A	ENST00000342788.4	-	27	3609	c.3299A>T	c.(3298-3300)gAg>gTg	p.E1100V	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1084V|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1090V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1100					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATCAAAAATCTCAGCAGTAGC	0.552										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3298-3300)gAg>gTg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							132.0	124.0	127.0					2																	212251760		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251760T>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3299A>T	2.37:g.212251760T>A	ENSP00000342235:p.Glu1100Val	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.E1084V|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1090V	p.E1100V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3609	-		Renal(323;0.06)|Lung NSC(271;0.197)	1100					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3299A>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003731	0.54254	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76709	-1.04;-1.03;-1.04	5.73	5.73	0.89815	.	0.178514	0.48286	D	0.000184	T	0.68970	0.3059	N	0.22421	0.69	0.43919	D	0.996568	P;P;P;P	0.40398	0.589;0.716;0.589;0.454	B;B;B;B	0.39840	0.211;0.311;0.211;0.105	T	0.73833	-0.3858	10	0.66056	D	0.02	.	16.0209	0.80493	0.0:0.0:0.0:1.0	.	1074;1090;1084;1100	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	1100;1084;1090	ENSP00000342235:E1100V;ENSP00000403204:E1084V;ENSP00000385565:E1090V	ENSP00000342235:E1100V	E	-	2	0	ERBB4	211960005	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.313000	0.72844	2.186000	0.69663	0.459000	0.35465	GAG		0.552	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		33	100	0	0	0	1	0	33	100				
DGKK	139189	broad.mit.edu	37	X	50129580	50129580	+	RNA	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:50129580T>C	ENST00000376025.2	-	0	2182							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATACATTAAGTCACTCTATAT	0.488																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							66.0	53.0	57.0					X																	50129580		2038	4174	6212			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129580T>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129580T>C										Q5KSL6	DGKK_HUMAN			0	2182	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.488	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		10	13	0	0	0	1	0	10	13				
CACNA1E	777	broad.mit.edu	37	1	181702832	181702832	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:181702832G>A	ENST00000367573.2	+	21	3208	c.3208G>A	c.(3208-3210)Gtc>Atc	p.V1070I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1051I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1002I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V677I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1051I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1021I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1070					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCACCAGCGTCACCGTCGC	0.632																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3151-3153)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit							43.0	49.0	47.0					1																	181702832		2195	4272	6467	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702832G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3208G>A	1.37:g.181702832G>A	ENSP00000356545:p.Val1070Ile					CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V677I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1021I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1002I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1051I	p.V1051I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3316	+			1070					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3151G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841387	0.16963	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96073	-3.84;-3.84;-3.85;-3.84;-3.9;-3.84;-3.85	4.99	4.99	0.66335	.	5.177720	0.00357	N	0.000037	D	0.89653	0.6777	N	0.08118	0	0.32996	D	0.525562	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.79230	-0.1889	10	0.26408	T	0.33	.	6.8912	0.24230	0.225:0.0:0.775:0.0	.	1051;1070;1070	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1070;1051;1021;1002;677;1051;1070	ENSP00000356542:V1070I;ENSP00000434814:V1051I;ENSP00000350183:V1021I;ENSP00000351101:V1002I;ENSP00000356539:V677I;ENSP00000353222:V1051I;ENSP00000356545:V1070I	ENSP00000350183:V1021I	V	+	1	0	CACNA1E	179969455	0.998000	0.40836	0.953000	0.39169	0.289000	0.27227	3.210000	0.51129	2.313000	0.78055	0.561000	0.74099	GTC		0.632	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	28	0	0	0	1	0	4	28				
EPHX1	2052	broad.mit.edu	37	1	226030159	226030159	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:226030159G>A	ENST00000366837.4	+	7	1220	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	342					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATACCTGGAGGATGGAGGCCT	0.572																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1024-1026)Gat>Aat		epoxide hydrolase 1, microsomal (xenobiotic)							99.0	109.0	106.0					1																	226030159		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226030159G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1024G>A	1.37:g.226030159G>A	ENSP00000355802:p.Asp342Asn					EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N|RP11-285F7.2_ENST00000424332.1_RNA	p.D342N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			7	1220	+	Breast(184;0.197)		342					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1024G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754864	0.89843	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.08896	3.04;3.04	5.19	4.28	0.50868	Alpha/beta hydrolase fold-1 (1);	0.051285	0.85682	N	0.000000	T	0.25344	0.0616	M	0.80847	2.515	0.80722	D	1	B	0.31054	0.306	P	0.47827	0.558	T	0.02766	-1.1113	10	0.59425	D	0.04	-8.9518	14.1722	0.65517	0.0727:0.0:0.9273:0.0	.	342	P07099	HYEP_HUMAN	N	342	ENSP00000272167:D342N;ENSP00000355802:D342N	ENSP00000272167:D342N	D	+	1	0	EPHX1	224096782	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	6.649000	0.74364	1.315000	0.45114	0.561000	0.74099	GAT		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		17	38	0	0	0	1	0	17	38				
KBTBD12	166348	broad.mit.edu	37	3	127642128	127642128	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:127642128A>T	ENST00000405109.1	+	2	691	c.224A>T	c.(223-225)tAt>tTt	p.Y75F	KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y75F|KBTBD12_ENST00000343941.4_5'Flank|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTCATACTTTATGACATCACA	0.413																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(223-225)tAt>tTt		kelch repeat and BTB (POZ) domain containing 12							91.0	84.0	86.0					3																	127642128		1929	4132	6061	SO:0001583	missense	166348							g.chr3:127642128A>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.224A>T	3.37:g.127642128A>T	ENSP00000385957:p.Tyr75Phe					KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y75F	p.Y75F			Q3ZCT8	KBTBC_HUMAN			2	691	+			75			BTB.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.224A>T	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745237	0.30955	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.66995	-0.24;-0.24	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.59729	0.2215	N	0.25485	0.75	0.09310	N	1	B	0.21381	0.055	B	0.29440	0.102	T	0.56432	-0.7980	9	0.54805	T	0.06	.	15.9694	0.80001	1.0:0.0:0.0:0.0	.	75	Q3ZCT8	KBTBC_HUMAN	F	75	ENSP00000385957:Y75F;ENSP00000385879:Y75F	ENSP00000385957:Y75F	Y	+	2	0	KBTBD12	129124818	0.188000	0.23250	0.106000	0.21319	0.869000	0.49853	3.855000	0.55957	2.177000	0.69029	0.377000	0.23210	TAT		0.413	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		53	39	0	0	0	1	0	53	39				
TRBV7-4	28594	broad.mit.edu	37	7	142176774	142176774	+	RNA	SNP	A	A	G			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:142176774A>G	ENST00000390369.2	-	0	16									T cell receptor beta variable 7-4 (gene/pseudogene)																		CACCCAGCAGAGGAGCCTGGT	0.537																																						ENST00000390369.2																			0																				89.0	91.0	91.0					7																	142176774		1943	4123	6066			28594							g.chr7:142176774A>G	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176774A>G														0	16	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.537	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		28	58	0	0	0	1	0	28	58				
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	27	0	0	0	1	0	3	27				
CD68	968	broad.mit.edu	37	17	7484822	7484822	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:7484822C>T	ENST00000250092.6	+	6	1269	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	MPDU1_ENST00000250124.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_5'Flank|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_5'Flank|CD68_ENST00000380498.6_Missense_Mutation_p.A326V|MPDU1_ENST00000423172.2_5'Flank	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	353					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GCCTACCAGGCCCTCTGAGCA	0.577																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(1057-1059)gCc>gTc		CD68 molecule							90.0	84.0	86.0					17																	7484822		2203	4300	6503	SO:0001583	missense	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484822C>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.1058C>T	17.37:g.7484822C>T	ENSP00000250092:p.Ala353Val					CD68_ENST00000380498.6_Missense_Mutation_p.A326V	p.A353V	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			6	1269	+			353					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	c.1058C>T	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840858	0.32513	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.33865	1.39	5.22	4.23	0.50019	.	0.419016	0.20512	N	0.090875	T	0.27697	0.0681	N	0.22421	0.69	0.24841	N	0.992469	B;B	0.27286	0.077;0.174	B;B	0.33392	0.163;0.163	T	0.21793	-1.0235	10	0.39692	T	0.17	-8.5991	11.5788	0.50879	0.0:0.8207:0.1793:0.0	.	353;326	P34810;B4DVT4	CD68_HUMAN;.	V	353;296	ENSP00000250092:A353V	ENSP00000250092:A353V	A	+	2	0	CD68	7425546	0.988000	0.35896	1.000000	0.80357	0.134000	0.20937	3.583000	0.53928	1.397000	0.46682	0.655000	0.94253	GCC		0.577	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		26	34	0	0	0	1	0	26	34				
ZC3HAV1	56829	broad.mit.edu	37	7	138758754	138758754	+	Missense_Mutation	SNP	T	T	C	rs150148096	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr7:138758754T>C	ENST00000242351.5	-	7	2036	c.1720A>G	c.(1720-1722)Atc>Gtc	p.I574V	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I696V|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I574V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	574					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGAAAATTGATTGTATAACTT	0.423													T|||	10	0.00199681	0.0	0.0	5008	,	,		18405	0.006		0.004	False		,,,				2504	0.0					ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1720-1722)Atc>Gtc		zinc finger CCCH-type, antiviral 1		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	95.0	90.0	92.0		1720,1720	2.6	0.2	7	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ZC3HAV1	NM_020119.3,NM_024625.3	29,29	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign,benign	574/903,574/700	138758754	3,13003	2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138758754T>C	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1720A>G	7.37:g.138758754T>C	ENSP00000242351:p.Ile574Val					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I696V|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I574V	p.I574V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			7	2036	-			574					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1720A>G	CCDS5851.1	9|9	0.004120879120879121|0.004120879120879121	0|0	0.0|0.0	0|0	0.0|0.0	5|5	0.008741258741258742|0.008741258741258742	4|4	0.005277044854881266|0.005277044854881266	T|T	8.728|8.728	0.916006|0.916006	0.17907|0.17907	0.0|0.0	3.49E-4|3.49E-4	ENSG00000105939|ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247|ENST00000460845	T;T;T|.	0.16073|.	3.35;3.23;2.37|.	5.03|5.03	2.61|2.61	0.31194|0.31194	.|.	0.251664|.	0.28425|.	N|.	0.015399|.	T|T	0.19327|0.19327	0.0464|0.0464	L|L	0.34521|0.34521	1.04|1.04	0.22996|0.22996	N|N	0.998459|0.998459	B;B|.	0.28350|.	0.028;0.208|.	B;B|.	0.23716|.	0.03;0.048|.	T|T	0.18871|0.18871	-1.0323|-1.0323	10|5	0.37606|.	T|.	0.19|.	.|.	4.0192|4.0192	0.09657|0.09657	0.0:0.182:0.1809:0.6371|0.0:0.182:0.1809:0.6371	.|.	574;574|.	Q7Z2W4-2;Q7Z2W4|.	.;ZCCHV_HUMAN|.	V|S	574;696;574;334|138	ENSP00000242351:I574V;ENSP00000418385:I696V;ENSP00000419855:I574V|.	ENSP00000242351:I574V|.	I|N	-|-	1|2	0|0	ZC3HAV1|ZC3HAV1	138409294|138409294	0.000000|0.000000	0.05858|0.05858	0.201000|0.201000	0.23476|0.23476	0.042000|0.042000	0.13812|0.13812	-0.478000|-0.478000	0.06575|0.06575	0.379000|0.379000	0.24794|0.24794	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.423	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		22	59	0	0	0	1	0	22	59				
MYH8	4626	broad.mit.edu	37	17	10293783	10293783	+	Silent	SNP	G	G	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr17:10293783G>T	ENST00000403437.2	-	40	5896	c.5802C>A	c.(5800-5802)atC>atA	p.I1934I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1934					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCTGCACTGATTTTTGTGT	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5800-5802)atC>atA		myosin, heavy chain 8, skeletal muscle, perinatal							142.0	135.0	137.0					17																	10293783		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10293783G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5802C>A	17.37:g.10293783G>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.I1934I	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			40	5896	-			1934					Q14910	Silent	SNP	ENST00000403437.2	37	c.5802C>A	CCDS11153.1																																																																																				0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		27	116	1	0	4.87955e-14	1	5.68743e-14	27	116				
RC3H2	54542	broad.mit.edu	37	9	125627747	125627747	+	Silent	SNP	C	C	T			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr9:125627747C>T	ENST00000373670.1	-	9	2115	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	RC3H2_ENST00000357244.2_Silent_p.Q505Q|RC3H2_ENST00000423239.2_Silent_p.Q505Q|RC3H2_ENST00000373665.2_Missense_Mutation_p.S478N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	505					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTGAGATTAGCTGGGAAACAC	0.453																																						ENST00000373665.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1432-1434)aGc>aAc		ring finger and CCCH-type domains 2							171.0	156.0	161.0					9																	125627747		1888	4110	5998	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125627747C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1515G>A	9.37:g.125627747C>T						RC3H2_ENST00000357244.2_Silent_p.Q505Q|RC3H2_ENST00000373670.1_Silent_p.Q505Q|RC3H2_ENST00000423239.2_Silent_p.Q505Q	p.S478N			Q9HBD1	RC3H2_HUMAN			11	1673	-			0					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1433G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001071	0.54254	.	.	ENSG00000056586	ENST00000373665	T	0.32272	1.46	5.97	1.35	0.21983	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	T	0.26815	-1.0092	6	0.87932	D	0	-24.7182	9.441	0.38668	0.0:0.5657:0.0:0.4343	.	.	.	.	N	478	ENSP00000362769:S478N	ENSP00000362769:S478N	S	-	2	0	RC3H2	124667568	0.980000	0.34600	0.998000	0.56505	0.999000	0.98932	-0.016000	0.12613	0.056000	0.16144	0.650000	0.86243	AGC		0.453	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		29	93	0	0	0	1	0	29	93				
MED4	29079	broad.mit.edu	37	13	48653988	48653988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr13:48653988C>A	ENST00000258648.2	-	6	657	c.632G>T	c.(631-633)aGa>aTa	p.R211I	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R165I	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		ACCTGGCAATCTTCCTGCTGC	0.438																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(631-633)aGa>aTa		mediator complex subunit 4							139.0	122.0	128.0					13																	48653988		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48653988C>A	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.632G>T	13.37:g.48653988C>A	ENSP00000258648:p.Arg211Ile					MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R165I|MED4_ENST00000495013.1_5'UTR	p.R211I	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	657	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	211					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.632G>T	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087990	0.76642	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.79784	0.993;0.99	T	0.71331	-0.4625	9	0.41790	T	0.15	-22.5998	18.9634	0.92685	0.0:1.0:0.0:0.0	.	189;211	E9PDW1;Q9NPJ6	.;MED4_HUMAN	I	211;189;165;189	.	ENSP00000258648:R211I	R	-	2	0	MED4	47551989	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	7.660000	0.83776	2.793000	0.96121	0.563000	0.77884	AGA		0.438	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		29	81	1	0	1.16021e-09	1	1.29238e-09	29	81				
RLF	6018	broad.mit.edu	37	1	40702813	40702813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:40702813delC	ENST00000372771.4	+	8	2466	c.2439delC	c.(2437-2439)tacfs	p.Y813fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	813					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTTCTATTACTCCAAAATTG	0.383																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(2437-2439)tafs		rearranged L-myc fusion							70.0	68.0	69.0					1																	40702813		2203	4300	6503	SO:0001589	frameshift_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702813delC		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2439delC	1.37:g.40702813delC	ENSP00000361857:p.Tyr813fs						p.Y813fs	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2466	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	813					Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	c.2439delC	CCDS448.1																																																																																				0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		18	47						18	47	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120438120	120438120	+	Silent	SNP	T	T	C			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr1:120438120T>C	ENST00000369400.1	-	1	998	c.840A>G	c.(838-840)aaA>aaG	p.K280K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	280	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATACACTTTTTTTATATATTA	0.343																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(838-840)aaA>aaG		ADAM metallopeptidase domain 30							37.0	41.0	40.0					1																	120438120		2197	4299	6496	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438120T>C	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.840A>G	1.37:g.120438120T>C							p.K280K	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	998	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	280			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.840A>G	CCDS907.1																																																																																				0.343	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		36	48	0	0	0	1	0	36	48				
DLX2	1746	broad.mit.edu	37	2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-	rs376692475		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-138)del		distal-less homeobox 2				19,76,3319		3,0,13,8,60,1623						4.5	1.0			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967129_172967131delGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del					DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	497_499	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Del	DEL	ENST00000234198.4	37	c.136_138delAGC	CCDS2248.1																																																																																				0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	4						2	4	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188477995	188478003	+	In_Frame_Del	DEL	CATCTGCAA	CATCTGCAA	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr3:188477995_188478003delCATCTGCAA	ENST00000312675.4	+	8	1581_1589	c.1335_1343delCATCTGCAA	c.(1333-1344)atcatctgcaac>atc	p.ICN446del	LPP_ENST00000543006.1_In_Frame_Del_p.ICN446del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	446	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTACCTGCATCATCTGCAACAACAAGCTC	0.502			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1333-1344)atc>at		LIM domain containing preferred translocation partner in lipoma																																				SO:0001651	inframe_deletion	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188477995_188478003delCATCTGCAA	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1335_1343delCATCTGCAA	3.37:g.188477995_188478003delCATCTGCAA	ENSP00000318089:p.Ile446_Asn448del					LPP_ENST00000543006.1_In_Frame_Del_p.IICN445del	p.IICN445del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1581_1589	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	445			LIM zinc-binding 1.		A1L4L6|D3DNV6|Q8NFX5	In_Frame_Del	DEL	ENST00000312675.4	37	c.1335_1343delCATCTGCAA	CCDS3291.1																																																																																				0.502	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		22	77						22	77	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966722	132966723	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr6:132966722_132966723delAA	ENST00000275216.1	-	1	419_420	c.420_421delTT	c.(418-423)atttgtfs	p.IC140fs		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	140					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ATCATCACACAAATAACCAAGA	0.396																																						ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(418-423)atgtfs		trace amine associated receptor 1	Amphetamine(DB00182)																																			SO:0001589	frameshift_variant	134864					plasma membrane		g.chr6:132966722_132966723delAA	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.420_421delTT	6.37:g.132966722_132966723delAA	ENSP00000275216:p.Ile140fs						p.IC140fs	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	419_420	-	Breast(56;0.135)		140					Q2M1W5|Q3MIH8|Q5VUQ1	Frame_Shift_Del	DEL	ENST00000275216.1	37	c.420_421delTT	CCDS5158.1																																																																																				0.396	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		23	50						23	50	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					ENST00000330915.3																			2	Deletion - In frame(2)	p.D489_S492delDGDS(2)	large_intestine(1)|breast(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1465-1479)gag>ga		KN motif and ankyrin repeat domains 3				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			5	1532_1543	-			489					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		2	4						2	4	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153595205	153595205	+	Frame_Shift_Del	DEL	T	T	-	rs184864998		TCGA-D6-8569-01A-11D-2394-08	TCGA-D6-8569-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94b593da-a73a-40cd-bd87-1bac2ef88892	2980a1f4-2730-42c0-80af-7efc1d0b6f23	g.chrX:153595205delT	ENST00000369850.3	-	6	1118	c.882delA	c.(880-882)acafs	p.T294fs	FLNA_ENST00000344736.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.T294fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	294					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATGTTGCCTGTGGGCTCGA	0.657																																						ENST00000422373.1																			0				breast(6)	6						c.(880-882)acfs		filamin A, alpha							74.0	70.0	71.0					X																	153595205		2121	4234	6355	SO:0001589	frameshift_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153595205delT	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.882delA	X.37:g.153595205delT	ENSP00000358866:p.Thr294fs					FLNA_ENST00000344736.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.T294fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.T294fs	p.T294fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			6	1130	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		294					E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	ENST00000369850.3	37	c.882delA	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			26	16						26	16	---	---	---	---
