#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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	57	0	0	0	1	0	3	57				
CORIN	10699	broad.mit.edu	37	4	47788901	47788901	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr4:47788901G>A	ENST00000273857.4	-	3	249	c.250C>T	c.(250-252)Cct>Tct	p.P84S	CORIN_ENST00000505909.1_Missense_Mutation_p.P84S|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	84					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTGACCAAAGGTTCACTCCCA	0.358																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(250-252)Cct>Tct		corin, serine peptidase							73.0	68.0	70.0					4																	47788901		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788901G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.250C>T	4.37:g.47788901G>A	ENSP00000273857:p.Pro84Ser					CORIN_ENST00000505909.1_Missense_Mutation_p.P84S|CORIN_ENST00000504584.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron	p.P84S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			3	249	-			84					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.250C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838388	0.32513	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92299	-2.52;-2.41;-3.01	4.78	3.93	0.45458	.	0.537818	0.18389	N	0.142737	D	0.88559	0.6469	L	0.32530	0.975	0.28097	N	0.931574	B;D;P	0.54601	0.031;0.967;0.454	B;P;B	0.49799	0.006;0.622;0.058	T	0.81607	-0.0856	10	0.37606	T	0.19	.	8.2817	0.31904	0.1043:0.0:0.8957:0.0	.	84;84;84	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	S	84	ENSP00000273857:P84S;ENSP00000425401:P84S;ENSP00000423216:P84S	ENSP00000273857:P84S	P	-	1	0	CORIN	47483658	0.998000	0.40836	1.000000	0.80357	0.503000	0.33858	1.931000	0.40134	2.677000	0.91161	0.558000	0.71614	CCT		0.358	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	18	0	0	0	1	0	15	18				
LCE2C	353140	broad.mit.edu	37	1	152648603	152648603	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:152648603G>T	ENST00000368783.1	+	2	167	c.112G>T	c.(112-114)Gct>Tct	p.A38S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	38	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGTGCCCAGCTCCATGTTT	0.617																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(112-114)Gct>Tct		late cornified envelope 2C							129.0	138.0	135.0					1																	152648603		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648603G>T		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.112G>T	1.37:g.152648603G>T	ENSP00000357772:p.Ala38Ser					LCE2B_ENST00000417924.2_Intron	p.A38S	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	167	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.112G>T	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	G	3.996	-0.003448	0.07773	.	.	ENSG00000187180	ENST00000368783	T	0.03831	3.79	2.47	2.47	0.30058	.	.	.	.	.	T	0.02267	0.0070	L	0.35644	1.08	0.20074	N	0.999937	P	0.41947	0.766	B	0.43386	0.418	T	0.44159	-0.9346	9	0.87932	D	0	.	8.4121	0.32648	0.0:0.0:1.0:0.0	.	38	Q5TA81	LCE2C_HUMAN	S	38	ENSP00000357772:A38S	ENSP00000357772:A38S	A	+	1	0	LCE2C	150915227	0.011000	0.17503	0.626000	0.29213	0.223000	0.24884	0.660000	0.25009	1.381000	0.46364	0.563000	0.77884	GCT		0.617	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		63	91	1	0	2.18419e-29	1	2.33228e-29	63	91				
PTPRC	5788	broad.mit.edu	37	1	198719693	198719693	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:198719693A>G	ENST00000367376.2	+	29	3310	c.3139A>G	c.(3139-3141)Atg>Gtg	p.M1047V	PTPRC_ENST00000594404.1_Missense_Mutation_p.M886V|PTPRC_ENST00000442510.2_Missense_Mutation_p.M1049V|PTPRC_ENST00000348564.6_Missense_Mutation_p.M888V|PTPRC_ENST00000352140.3_Missense_Mutation_p.M999V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1047	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTTTGGCAGATGATCTTCCA	0.403																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3139-3141)Atg>Gtg		protein tyrosine phosphatase, receptor type, C							149.0	146.0	147.0					1																	198719693		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719693A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3139A>G	1.37:g.198719693A>G	ENSP00000356346:p.Met1047Val					PTPRC_ENST00000594404.1_Missense_Mutation_p.M886V|PTPRC_ENST00000352140.3_Missense_Mutation_p.M999V|PTPRC_ENST00000348564.6_Missense_Mutation_p.M888V|PTPRC_ENST00000442510.2_Missense_Mutation_p.M1049V	p.M1047V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3310	+			1047			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3139A>G		.	.	.	.	.	.	.	.	.	.	A	19.15	3.771646	0.69992	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.21734	1.99	5.79	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.56097	D	0.000035	T	0.50309	0.1608	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56780	-0.7922	10	0.87932	D	0	.	11.7866	0.52045	0.9317:0.0:0.0683:0.0	.	888;999;1047	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	V	1049;999;1047;886	ENSP00000193532:M999V	ENSP00000306782:M886V	M	+	1	0	PTPRC	196986316	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.021000	0.76425	1.037000	0.40024	0.455000	0.32223	ATG		0.403	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				40	62	0	0	0	1	0	40	62				
IQCA1	79781	broad.mit.edu	37	2	237405943	237405943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:237405943G>A	ENST00000409907.3	-	2	473	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Q67*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Q63*	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	67							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTCGTTTCTGGGGGTGGACG	0.473																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(199-201)Cag>Tag		IQ motif containing with AAA domain 1							69.0	69.0	69.0					2																	237405943		1921	4125	6046	SO:0001587	stop_gained	79781						ATP binding	g.chr2:237405943G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.199C>T	2.37:g.237405943G>A	ENSP00000387347:p.Gln67*					IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Q67*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Q63*	p.Q67*			Q86XH1	IQCA1_HUMAN			2	473	-			67					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Nonsense_Mutation	SNP	ENST00000409907.3	37	c.199C>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.828475|7.828475	0.98513|0.98513	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	T|.	0.37411|.	1.2|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.64402	.|D	.|0.000019	T|.	0.81791|.	0.4897|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83768|.	0.0218|.	5|.	0.72032|0.87932	D|D	0.01|0	.|.	19.4741|19.4741	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	85|67;74;63;67;63	ENSP00000390964:P85L|.	ENSP00000390964:P85L|ENSP00000254653:Q67X	P|Q	-|-	2|1	0|0	IQCA1|IQCA1	237070682|237070682	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.649000|0.649000	0.38597|0.38597	9.583000|9.583000	0.98217|0.98217	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		9	21	0	0	0	1	0	9	21				
HECTD2	143279	broad.mit.edu	37	10	93220201	93220201	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:93220201A>G	ENST00000298068.5	+	3	380	c.286A>G	c.(286-288)Att>Gtt	p.I96V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.I96V|HECTD2_ENST00000371681.4_Missense_Mutation_p.I96V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	96					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACCACCACCAATTTGCCTTGA	0.353																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(286-288)Att>Gtt		HECT domain containing E3 ubiquitin protein ligase 2							149.0	140.0	143.0					10																	93220201		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93220201A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.286A>G	10.37:g.93220201A>G	ENSP00000298068:p.Ile96Val					HECTD2_ENST00000371681.4_Missense_Mutation_p.I96V|HECTD2_ENST00000298068.5_Missense_Mutation_p.I96V	p.I96V			Q5U5R9	HECD2_HUMAN			3	386	+			96					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.286A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	5.893	0.348947	0.11182	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.51817	1.24;0.69;1.24	5.26	-3.13	0.05266	.	0.364321	0.29745	N	0.011306	T	0.34135	0.0887	L	0.59436	1.845	0.80722	D	1	B;B;B	0.16603	0.001;0.004;0.018	B;B;B	0.14578	0.001;0.003;0.011	T	0.04593	-1.0940	10	0.25106	T	0.35	.	6.4207	0.21742	0.4271:0.2318:0.341:0.0	.	96;96;96	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	V	96	ENSP00000401023:I96V;ENSP00000360746:I96V;ENSP00000298068:I96V	ENSP00000298068:I96V	I	+	1	0	HECTD2	93210181	0.011000	0.17503	0.804000	0.32291	0.126000	0.20510	-0.158000	0.10070	-0.936000	0.03723	-1.391000	0.01154	ATT		0.353	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			51	34	0	0	0	1	0	51	34				
LYPLAL1	127018	broad.mit.edu	37	1	219347260	219347260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:219347260C>T	ENST00000366928.5	+	1	75	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	LYPLAL1_ENST00000483635.1_3'UTR|RP11-135J2.4_ENST00000441331.1_RNA|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q10*	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	10					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GTCGGTTCTGCAGCGCTGTAT	0.627																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(28-30)Cag>Tag		lysophospholipase-like 1							61.0	55.0	57.0					1																	219347260		2203	4300	6503	SO:0001587	stop_gained	127018					cytoplasm	lysophospholipase activity	g.chr1:219347260C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.28C>T	1.37:g.219347260C>T	ENSP00000355895:p.Gln10*					LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q10*|RP11-135J2.4_ENST00000441331.1_RNA	p.Q10*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	1	75	+			10					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Nonsense_Mutation	SNP	ENST00000366928.5	37	c.28C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877864	0.91664	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	4.99	3.07	0.35406	.	1.818590	0.04189	U	0.327966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	6.8471	0.23994	0.0:0.7277:0.1773:0.095	.	.	.	.	X	10	.	ENSP00000355894:Q10X	Q	+	1	0	LYPLAL1	217413883	0.653000	0.27358	0.001000	0.08648	0.042000	0.13812	3.868000	0.56055	0.776000	0.33473	0.591000	0.81541	CAG		0.627	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		19	32	0	0	0	1	0	19	32				
C19orf35	374872	broad.mit.edu	37	19	2278617	2278617	+	Missense_Mutation	SNP	G	G	A	rs149444944	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:2278617G>A	ENST00000342063.3	-	3	671	c.578C>T	c.(577-579)gCg>gTg	p.A193V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	193										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GTCCTCGTGCGCGCGCACCAC	0.692													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13931	0.0		0.0	False		,,,				2504	0.0					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(577-579)gCg>gTg		chromosome 19 open reading frame 35		G	VAL/ALA	4,4386		0,4,2191	27.0	28.0	28.0		578	-0.2	0.0	19	dbSNP_134	28	0,8580		0,0,4290	yes	missense	C19orf35	NM_198532.2	64	0,4,6481	AA,AG,GG		0.0,0.0911,0.0308	benign	193/474	2278617	4,12966	2195	4290	6485	SO:0001583	missense	374872							g.chr19:2278617G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.578C>T	19.37:g.2278617G>A	ENSP00000345102:p.Ala193Val						p.A193V	NM_198532.2	NP_940934.1	Q6ZS72	CS035_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)	3	671	-			193						Missense_Mutation	SNP	ENST00000342063.3	37	c.578C>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	0.971	-0.700047	0.03279	9.11E-4	0.0	ENSG00000188305	ENST00000342063	T	0.15952	2.38	4.37	-0.209	0.13180	.	.	.	.	.	T	0.05090	0.0136	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	9	0.06236	T	0.91	.	4.4486	0.11609	0.4209:0.1883:0.3907:0.0	.	193	Q6ZS72	CS035_HUMAN	V	193	ENSP00000345102:A193V	ENSP00000345102:A193V	A	-	2	0	C19orf35	2229617	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.182000	0.09726	-0.171000	0.10797	-0.522000	0.04353	GCG		0.692	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		7	23	0	0	0	1	0	7	23				
CCDC85A	114800	broad.mit.edu	37	2	56599551	56599551	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:56599551C>T	ENST00000407595.2	+	4	1892	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	464										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAGAGCCCGGCGGGTCTT	0.522																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1390-1392)Cgg>Tgg		coiled-coil domain containing 85A							29.0	34.0	32.0					2																	56599551		1918	4118	6036	SO:0001583	missense	114800							g.chr2:56599551C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1390C>T	2.37:g.56599551C>T	ENSP00000384040:p.Arg464Trp					RP11-482H16.1_ENST00000607540.1_RNA	p.R464W	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1892	+			464						Missense_Mutation	SNP	ENST00000407595.2	37	c.1390C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061149	0.76074	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.96	0.65561	.	0.122489	0.31936	N	0.006837	T	0.27454	0.0674	N	0.08118	0	0.35662	D	0.812608	D	0.64830	0.994	P	0.47744	0.556	T	0.21008	-1.0258	9	0.38643	T	0.18	-14.8007	9.8696	0.41166	0.0:0.9095:0.0:0.0905	.	464	Q96PX6	CC85A_HUMAN	W	464;53	.	ENSP00000384040:R464W	R	+	1	2	CCDC85A	56453055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.149000	0.42244	2.767000	0.95098	0.591000	0.81541	CGG		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			3	14	0	0	0	1	0	3	14				
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A	rs201791007		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						ENST00000421285.3																			1	Substitution - coding silent(1)	p.A289A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(865-867)gcG>gcA		golgin A6 family, member B							32.0	31.0	32.0					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A							p.A289A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	867	+			289					A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		4	45	0	0	0	1	0	4	45				
CARD11	84433	broad.mit.edu	37	7	2962846	2962846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:2962846G>A	ENST00000396946.4	-	16	2465	c.2062C>T	c.(2062-2064)Cga>Tga	p.R688*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	688	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGCTCCCTCGCGCGTTGCCC	0.701			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2062-2064)Cga>Tga		caspase recruitment domain family, member 11							42.0	43.0	43.0					7																	2962846		2203	4298	6501	SO:0001587	stop_gained	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962846G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2062C>T	7.37:g.2962846G>A	ENSP00000380150:p.Arg688*						p.R688*	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	16	2465	-		Ovarian(82;0.0115)	688			PDZ.		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	ENST00000396946.4	37	c.2062C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	42	9.286587	0.99125	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	.	.	.	4.89	0.535	0.17133	.	0.309163	0.33217	N	0.005142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.3815	7.4554	0.27264	0.0861:0.0:0.3307:0.5832	.	.	.	.	X	688;159	.	ENSP00000347695:R159X	R	-	1	2	CARD11	2929372	0.769000	0.28531	0.000000	0.03702	0.409000	0.31022	1.841000	0.39240	0.090000	0.17273	0.555000	0.69702	CGA		0.701	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		29	10	0	0	0	1	0	29	10				
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A	rs202189737		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403																																						ENST00000390673.2																			1	Substitution - Missense(1)	p.R210W(1)	lung(1)	breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(628-630)Cgg>Tgg		taste receptor, type 2, member 19							146.0	144.0	144.0					12																	11174543		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174543G>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.628C>T	12.37:g.11174543G>A	ENSP00000375091:p.Arg210Trp					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R210W	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	676	-			210					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.628C>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664227	0.29604	.	.	ENSG00000212124	ENST00000390673	T	0.00873	5.59	2.69	0.739	0.18324	.	2.120730	0.03861	U	0.273979	T	0.03390	0.0098	L	0.58101	1.795	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.36065	-0.9763	10	0.87932	D	0	.	3.8416	0.08917	0.2604:0.1987:0.5409:0.0	.	210	P59542	T2R19_HUMAN	W	210	ENSP00000375091:R210W	ENSP00000375091:R210W	R	-	1	2	TAS2R19	11065810	0.012000	0.17670	0.002000	0.10522	0.028000	0.11728	1.761000	0.38440	-0.004000	0.14419	-1.111000	0.02071	CGG		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	142	0	0	0	1	0	4	142				
ESX1	80712	broad.mit.edu	37	X	103498923	103498923	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chrX:103498923G>A	ENST00000372588.4	-	2	501	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	140					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGGCGGCGGCGTTTCCTCTCT	0.632																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(418-420)Cgc>Tgc		ESX homeobox 1							34.0	33.0	33.0					X																	103498923		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498923G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.418C>T	X.37:g.103498923G>A	ENSP00000361669:p.Arg140Cys						p.R140C	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	501	-			140					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.418C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.192792	0.58017	.	.	ENSG00000123576	ENST00000372588	D	0.97352	-4.35	4.48	3.62	0.41486	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	.	.	.	.	D	0.97964	0.9330	M	0.84948	2.725	0.32492	N	0.540023	D	0.89917	1.0	D	0.79784	0.993	D	0.97057	0.9768	9	0.87932	D	0	1.0992	5.3808	0.16189	0.1115:0.2019:0.6866:0.0	.	140	Q8N693	ESX1_HUMAN	C	140	ENSP00000361669:R140C	ENSP00000361669:R140C	R	-	1	0	ESX1	103385579	0.998000	0.40836	0.313000	0.25210	0.070000	0.16714	3.325000	0.52030	1.239000	0.43787	0.534000	0.68092	CGC		0.632	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		3	39	0	0	0	1	0	3	39				
NID1	4811	broad.mit.edu	37	1	236143233	236143233	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:236143233G>A	ENST00000264187.6	-	18	3480	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	NID1_ENST00000366595.3_Missense_Mutation_p.A1000V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1133					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGGCATTCCGCCCGATTGGT	0.493																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(3397-3399)gCg>gTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						82.0	79.0	80.0					1																	236143233		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236143233G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3398C>T	1.37:g.236143233G>A	ENSP00000264187:p.Ala1133Val					NID1_ENST00000366595.3_Missense_Mutation_p.A1000V	p.A1133V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		18	3480	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	1133					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.3398C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	9.700	1.154133	0.21371	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.22539	1.95;1.95	5.92	1.1	0.20463	Six-bladed beta-propeller, TolB-like (1);	0.469991	0.25756	N	0.028502	T	0.05227	0.0139	N	0.00648	-1.295	0.22754	N	0.998776	B;B	0.25390	0.125;0.023	B;B	0.08055	0.001;0.003	T	0.35871	-0.9771	10	0.35671	T	0.21	.	8.5724	0.33578	0.6091:0.0:0.3909:0.0	.	1000;1133	P14543-2;P14543	.;NID1_HUMAN	V	1133;1000	ENSP00000264187:A1133V;ENSP00000355554:A1000V	ENSP00000264187:A1133V	A	-	2	0	NID1	234209856	0.866000	0.29940	0.382000	0.26119	0.310000	0.27922	3.953000	0.56699	0.307000	0.22880	0.655000	0.94253	GCG		0.493	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		30	32	0	0	0	1	0	30	32				
GRIA1	2890	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2563-2565)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	67.0	66.0					5																	153190627		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190627C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2563C>T	5.37:g.153190627C>T	ENSP00000285900:p.Arg855Trp					GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2906	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	855					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2563C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.56;2.49;2.56;2.49;2.5;2.56;2.56	5.16	3.33	0.38152	.	0.057658	0.64402	D	0.000001	T	0.28995	0.0720	L	0.50333	1.59	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;P;D;P;D	0.67725	0.642;0.642;0.915;0.804;0.953	T	0.01087	-1.1456	10	0.87932	D	0	.	13.146	0.59461	0.2919:0.7081:0.0:0.0	.	865;865;775;855;855	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	855;855;775;855;788;786;865;865	ENSP00000285900:R855W;ENSP00000427920:R775W;ENSP00000339343:R855W;ENSP00000427864:R788W;ENSP00000442108:R786W;ENSP00000428994:R865W;ENSP00000415569:R865W	ENSP00000285900:R855W	R	+	1	2	GRIA1	153170820	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.503000	0.22610	0.525000	0.28522	-0.181000	0.13052	CGG		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			32	42	0	0	0	1	0	32	42				
HLTF	6596	broad.mit.edu	37	3	148793758	148793758	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:148793758T>C	ENST00000310053.5	-	3	498	c.305A>G	c.(304-306)aAt>aGt	p.N102S	HLTF_ENST00000392912.2_Missense_Mutation_p.N102S|HLTF_ENST00000494055.1_Missense_Mutation_p.N102S|HLTF_ENST00000465259.1_Missense_Mutation_p.N102S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	102					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCATTCACATTGTTTACTTT	0.318																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(304-306)aAt>aGt		helicase-like transcription factor							113.0	103.0	106.0					3																	148793758		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148793758T>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.305A>G	3.37:g.148793758T>C	ENSP00000308944:p.Asn102Ser					HLTF_ENST00000392912.2_Missense_Mutation_p.N102S|HLTF_ENST00000494055.1_Missense_Mutation_p.N102S|HLTF_ENST00000465259.1_Missense_Mutation_p.N102S	p.N102S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	498	-			102					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.305A>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507113	0.85282	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.54	5.54	0.83059	HIP116, Rad5p N-terminal (2);	.	.	.	.	D	0.96315	0.8798	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.999	D	0.96708	0.9523	9	0.72032	D	0.01	2.3701	14.9583	0.71135	0.0:0.0:0.0:1.0	.	102;102;102	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	102;102;102;102;99;99	ENSP00000420745:N102S;ENSP00000308944:N102S;ENSP00000376644:N102S;ENSP00000420429:N102S	ENSP00000308944:N102S	N	-	2	0	HLTF	150276448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.288000	0.78691	2.243000	0.73865	0.482000	0.46254	AAT		0.318	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			4	49	0	0	0	1	0	4	49				
SNRPG	6637	broad.mit.edu	37	2	70520767	70520767	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:70520767G>C	ENST00000272348.2	-	1	136	c.15C>G	c.(13-15)caC>caG	p.H5Q	SNRPG_ENST00000454893.1_Missense_Mutation_p.H5Q|SNRPG_ENST00000449935.2_5'Flank|SNRPG_ENST00000413456.2_5'Flank|SNRPG_ENST00000482975.2_5'Flank|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_5'Flank	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	5					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						ACTCGGGAGGGTGAGCTTTGC	0.562																																					NSCLC(57;761 1258 15082 39958 48415)	ENST00000272348.2																			0				endometrium(1)	1						c.(13-15)caC>caG		small nuclear ribonucleoprotein polypeptide G							189.0	158.0	168.0					2																	70520767		2203	4300	6503	SO:0001583	missense	6637				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr2:70520767G>C	X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.15C>G	2.37:g.70520767G>C	ENSP00000272348:p.His5Gln					SNRPG_ENST00000454893.1_Missense_Mutation_p.H5Q|SNRPG_ENST00000429728.1_5'UTR	p.H5Q	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN			1	136	-			5					D6W5G6|Q15357|Q6IB86	Missense_Mutation	SNP	ENST00000272348.2	37	c.15C>G	CCDS1903.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174109	0.21704	.	.	ENSG00000143977	ENST00000272348;ENST00000454893	.	.	.	4.98	1.18	0.20946	.	0.000000	0.64402	U	0.000001	T	0.39118	0.1066	.	.	.	0.52099	D	0.999941	B	0.02656	0.0	B	0.06405	0.002	T	0.09773	-1.0659	8	0.20519	T	0.43	.	8.9896	0.36014	0.3091:0.0:0.6909:0.0	.	5	P62308	RUXG_HUMAN	Q	5	.	ENSP00000272348:H5Q	H	-	3	2	SNRPG	70374271	0.999000	0.42202	0.999000	0.59377	0.664000	0.39144	0.475000	0.22164	0.105000	0.17753	-0.142000	0.14014	CAC		0.562	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2			24	75	0	0	0	1	0	24	75				
KIF20B	9585	broad.mit.edu	37	10	91474844	91474844	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:91474844A>G	ENST00000371728.3	+	8	910	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	KIF20B_ENST00000394289.2_Missense_Mutation_p.Y282C|KIF20B_ENST00000260753.4_Missense_Mutation_p.Y282C|KIF20B_ENST00000416354.1_Missense_Mutation_p.Y282C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TACAATGAATATATTTATGAC	0.299																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(844-846)tAt>tGt		kinesin family member 20B							44.0	50.0	48.0					10																	91474844		2200	4281	6481	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91474844A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.845A>G	10.37:g.91474844A>G	ENSP00000360793:p.Tyr282Cys					KIF20B_ENST00000260753.4_Missense_Mutation_p.Y282C|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y282C|KIF20B_ENST00000371728.3_Missense_Mutation_p.Y282C	p.Y282C			Q96Q89	KI20B_HUMAN			8	917	+			282			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.845A>G		.	.	.	.	.	.	.	.	.	.	A	9.878	1.200926	0.22121	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.66	2.36	0.29203	Kinesin, motor domain (4);	0.561347	0.16328	N	0.219222	T	0.51500	0.1678	N	0.10733	0.035	0.26603	N	0.972973	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.38672	-0.9650	10	0.27785	T	0.31	-1.2348	9.6725	0.40021	0.1372:0.0:0.739:0.1238	.	282;282	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	282	ENSP00000260753:Y282C;ENSP00000411545:Y282C;ENSP00000377830:Y282C;ENSP00000360793:Y282C	ENSP00000260753:Y282C	Y	+	2	0	KIF20B	91464824	0.991000	0.36638	0.999000	0.59377	0.982000	0.71751	0.478000	0.22212	0.749000	0.32854	-0.182000	0.12963	TAT		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		3	43	0	0	0	1	0	3	43				
PTH1R	5745	broad.mit.edu	37	3	46944116	46944116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:46944116C>T	ENST00000313049.5	+	12	1515	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	PTH1R_ENST00000430002.2_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000449590.1_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.Q438*			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	438					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GACGCTCTGGCAAGTCCAGAT	0.607																																						ENST00000449590.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1312-1314)Caa>Taa		parathyroid hormone 1 receptor							95.0	76.0	82.0					3																	46944116		2203	4300	6503	SO:0001587	stop_gained	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944116C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1312C>T	3.37:g.46944116C>T	ENSP00000321999:p.Gln438*					PTH1R_ENST00000430002.2_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.Q438*	p.Q438*	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN			14	1515	+			438					Q2M1U3	Nonsense_Mutation	SNP	ENST00000313049.5	37	c.1312C>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	37	6.445539	0.97572	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.2871	0.87145	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;438;438;438;716;10	.	ENSP00000321999:Q438X	Q	+	1	0	PTH1R	46919120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.591000	0.61019	2.553000	0.86117	0.655000	0.94253	CAA		0.607	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		3	37	0	0	0	1	0	3	37				
TTBK2	146057	broad.mit.edu	37	15	43109261	43109261	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:43109261C>A	ENST00000267890.6	-	7	680	c.572G>T	c.(571-573)cGt>cTt	p.R191L	TTBK2_ENST00000567840.1_Missense_Mutation_p.R191L|TTBK2_ENST00000567274.1_Missense_Mutation_p.R156L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGATGCATAACGAACTGTCCC	0.398																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(571-573)cGt>cTt		tau tubulin kinase 2							73.0	68.0	70.0					15																	43109261		1969	4139	6108	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43109261C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.572G>T	15.37:g.43109261C>A	ENSP00000267890:p.Arg191Leu					TTBK2_ENST00000567274.1_Missense_Mutation_p.R156L|TTBK2_ENST00000567840.1_Missense_Mutation_p.R191L	p.R191L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	7	680	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	191			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.572G>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.857878	0.97036	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66638	-0.22	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.97110	1.0;0.998;0.996;0.982	T	0.82697	-0.0329	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	171;122;191;191	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	L	191;121;171	ENSP00000267890:R191L	ENSP00000263802:R171L	R	-	2	0	TTBK2	40896553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.880000	0.98712	0.650000	0.86243	CGT		0.398	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		13	14	1	0	0.00316338	1	0.00316338	13	14				
NAV2	89797	broad.mit.edu	37	11	20005785	20005785	+	Silent	SNP	C	C	T	rs143699420		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr11:20005785C>T	ENST00000396087.3	+	12	2928	c.2829C>T	c.(2827-2829)gaC>gaT	p.D943D	NAV2_ENST00000360655.4_Silent_p.D856D|NAV2_ENST00000540292.1_Silent_p.D874D|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Silent_p.D920D|NAV2_ENST00000396085.1_Silent_p.D920D|NAV2_ENST00000527559.2_Silent_p.D872D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	943					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCCTCGGAGACGCTGACAGGT	0.587																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2758-2760)gaC>gaT		neuron navigator 2		C	,,	0,4406		0,0,2203	88.0	81.0	83.0		2568,2760,2760	-8.3	0.5	11	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	856/2366,920/2430,920/2433	20005785	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20005785C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2829C>T	11.37:g.20005785C>T						NAV2_ENST00000396087.3_Silent_p.D943D|NAV2_ENST00000527559.2_Silent_p.D872D|NAV2_ENST00000360655.4_Silent_p.D856D|NAV2_ENST00000349880.4_Silent_p.D920D|NAV2_ENST00000540292.1_Silent_p.D874D	p.D920D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			11	3121	+			943					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2760C>T	CCDS58126.1																																																																																				0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		17	34	0	0	0	1	0	17	34				
OXA1L	5018	broad.mit.edu	37	14	23239012	23239012	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr14:23239012C>T	ENST00000604262.1	+	4	475	c.452C>T	c.(451-453)gCc>gTc	p.A151V	OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V|OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000358043.5_Missense_Mutation_p.A135V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	151					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACAGTCTTTGCCCGCTGCCTG	0.478																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(403-405)gCc>gTc		oxidase (cytochrome c) assembly 1-like							579.0	563.0	568.0					14																	23239012		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239012C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.452C>T	14.37:g.23239012C>T	ENSP00000474623:p.Ala151Val					OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000604262.1_Missense_Mutation_p.A151V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V	p.A135V			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	722	+	all_cancers(95;8.44e-05)		151					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.404C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.303862	0.23736	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26518	1.73;1.78;1.78	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10629	0.01	0.80722	D	1	P;B;D	0.69078	0.926;0.246;0.997	P;B;D	0.69307	0.762;0.262;0.963	T	0.06058	-1.0848	10	0.02654	T	1	-8.7499	14.367	0.66812	0.0:0.9281:0.0:0.0719	.	151;151;211	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	V	211;20;151;135	ENSP00000285848:A211V;ENSP00000387601:A151V;ENSP00000350740:A135V	ENSP00000285848:A211V	A	+	2	0	OXA1L	22308852	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.694000	0.61760	1.540000	0.49301	0.655000	0.94253	GCC		0.478	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		5	342	0	0	0	1	0	5	342				
HCN1	348980	broad.mit.edu	37	5	45303942	45303942	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:45303942C>T	ENST00000303230.4	-	6	1435		c.e6-1			NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTATCTCCTAAAGATGTC	0.333																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.e6-1		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							82.0	86.0	85.0					5																	45303942		2203	4300	6503	SO:0001630	splice_region_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303942C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1378-1G>A	5.37:g.45303942C>T								NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1435	-									Splice_Site	SNP	ENST00000303230.4	37		CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632669	0.87660	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HCN1	45339699	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.718000	0.84743	2.809000	0.96659	0.655000	0.94253	.		0.333	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	Intron	28	43	0	0	0	1	0	28	43				
ADAMDEC1	27299	broad.mit.edu	37	8	24261576	24261576	+	Missense_Mutation	SNP	G	G	A	rs146989743	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr8:24261576G>A	ENST00000256412.4	+	13	1601	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G382R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.G382R	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	461	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AACTGATTGCGGAGGAGATGC	0.423																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(1144-1146)Gga>Aga		ADAM-like, decysin 1		G	ARG/GLY,ARG/GLY,ARG/GLY	5,4401	9.9+/-24.2	0,5,2198	216.0	199.0	205.0		1144,1144,1381	0.9	0.0	8	dbSNP_134	205	1,8599		0,1,4299	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	125,125,125	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign,benign,benign	382/392,382/392,461/471	24261576	6,13000	2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24261576G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1381G>A	8.37:g.24261576G>A	ENSP00000256412:p.Gly461Arg					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G461R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G382R	p.G382R	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	14	1691	+		Prostate(55;0.0181)	461			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.1144G>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185402	0.21870	0.001135	1.16E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.10763	2.84;2.84;2.84	5.34	0.936	0.19488	Blood coagulation inhibitor, Disintegrin (3);	1.118330	0.06669	N	0.765787	T	0.08714	0.0216	L	0.28115	0.83	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.42085	-0.9472	10	0.37606	T	0.19	0.0837	7.6455	0.28318	0.3973:0.0:0.6027:0.0	.	461	O15204	ADEC1_HUMAN	R	461;382;382	ENSP00000256412:G461R;ENSP00000442592:G382R;ENSP00000428993:G382R	ENSP00000256412:G461R	G	+	1	0	ADAMDEC1	24317521	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.355000	0.07671	-0.128000	0.11641	0.305000	0.20034	GGA		0.423	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		16	29	0	0	0	1	0	16	29				
MAB21L1	4081	broad.mit.edu	37	13	36050006	36050006	+	Silent	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr13:36050006G>A	ENST00000379919.4	-	1	826	c.270C>T	c.(268-270)gaC>gaT	p.D90D	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	90					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTGAGCCATCGTCCACGAAGT	0.577																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(268-270)gaC>gaT		mab-21-like 1 (C. elegans)							80.0	80.0	80.0					13																	36050006		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050006G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.270C>T	13.37:g.36050006G>A						NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	p.D90D	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	826	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	90					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.270C>T	CCDS9353.1																																																																																				0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		27	49	0	0	0	1	0	27	49				
TPH2	121278	broad.mit.edu	37	12	72425419	72425419	+	Missense_Mutation	SNP	G	G	A	rs147025898		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:72425419G>A	ENST00000333850.3	+	11	1558	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	473					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CCTTCGCAGCGACTTGAATAC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19736	0.0		0.001	False		,,,				2504	0.0					ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1417-1419)Gac>Aac		tryptophan hydroxylase 2	L-Tryptophan(DB00150)	G	ASN/ASP	0,4406		0,0,2203	174.0	168.0	170.0		1417	5.9	1.0	12	dbSNP_134	170	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TPH2	NM_173353.3	23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	473/491	72425419	3,13003	2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425419G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1417G>A	12.37:g.72425419G>A	ENSP00000329093:p.Asp473Asn						p.D473N	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1558	+			473					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1417G>A	CCDS31859.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	33	5.195543	0.94960	0.0	3.49E-4	ENSG00000139287	ENST00000333850	D	0.99567	-6.18	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	L	0.61387	1.9	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	D	0.99907	1.1183	10	0.87932	D	0	-27.6116	20.1858	0.98214	0.0:0.0:1.0:0.0	.	473	Q8IWU9	TPH2_HUMAN	N	473	ENSP00000329093:D473N	ENSP00000329093:D473N	D	+	1	0	TPH2	70711686	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	GAC		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		38	94	0	0	0	1	0	38	94				
LILRB1	10859	broad.mit.edu	37	19	55148290	55148290	+	Silent	SNP	A	A	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:55148290A>T	ENST00000396331.1	+	16	2271	c.1914A>T	c.(1912-1914)ccA>ccT	p.P638P	LILRB1_ENST00000396321.2_Silent_p.P638P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P689P|LILRB1_ENST00000396317.1_Silent_p.P622P|LILRB1_ENST00000396332.4_Silent_p.P639P|LILRB1_ENST00000418536.2_Silent_p.P622P|LILRB1_ENST00000324602.7_Silent_p.P640P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.P638P|LILRB1_ENST00000396327.3_Silent_p.P639P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Silent_p.P640P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	638					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCTCTCCAGCTGTGCCCA	0.647										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1912-1914)ccA>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							86.0	74.0	78.0					19																	55148290		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148290A>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1914A>T	19.37:g.55148290A>T		HNSCC(37;0.09)				LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P689P|LILRB1_ENST00000434867.2_Silent_p.P638P|LILRB1_ENST00000396317.1_Silent_p.P622P|LILRB1_ENST00000396315.1_Silent_p.P640P|LILRB1_ENST00000324602.7_Silent_p.P640P|LILRB1_ENST00000396321.2_Silent_p.P638P|LILRB1_ENST00000396327.3_Silent_p.P639P|LILRB1_ENST00000396332.4_Silent_p.P639P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P622P|LILRB1_ENST00000462628.1_3'UTR	p.P638P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2271	+			638					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1914A>T	CCDS42617.1																																																																																				0.647	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			26	46	0	0	0	1	0	26	46				
RAMP1	10267	broad.mit.edu	37	2	238786003	238786003	+	Splice_Site	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:238786003A>G	ENST00000254661.4	+	2	322	c.190A>G	c.(190-192)Agg>Ggg	p.R64G	RAMP1_ENST00000409726.1_Splice_Site_p.R42G|RAMP1_ENST00000403885.1_Splice_Site_p.R42G|RAMP1_ENST00000404910.2_Splice_Site_p.R42G	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	64					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CAGGACCATCAGGTGAGTCCC	0.647																																					NSCLC(177;211 2889 43936 50767)	ENST00000254661.4																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.e2+1		receptor (G protein-coupled) activity modifying protein 1	Pramlintide(DB01278)						66.0	63.0	64.0					2																	238786003		2203	4300	6503	SO:0001630	splice_region_variant	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238786003A>G	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.191+1A>G	2.37:g.238786003A>G						RAMP1_ENST00000409726.1_Splice_Site_p.R42_splice|RAMP1_ENST00000403885.1_Splice_Site_p.R42_splice|RAMP1_ENST00000404910.2_Splice_Site_p.R42_splice	p.R64_splice	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	2	322	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	64					Q6FGS5	Splice_Site	SNP	ENST00000254661.4	37	c.191_splice	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	A	0.752	-0.772589	0.02951	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.75	-8.01	0.01122	.	0.690462	0.14661	N	0.305992	T	0.14527	0.0351	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13575	-1.0504	10	0.25106	T	0.35	-7.4403	7.6051	0.28097	0.3973:0.4377:0.1649:0.0	.	64	O60894	RAMP1_HUMAN	G	42;64;42;42	ENSP00000384688:R42G;ENSP00000254661:R64G;ENSP00000386720:R42G;ENSP00000386046:R42G	ENSP00000254661:R64G	R	+	1	2	RAMP1	238450742	0.000000	0.05858	0.005000	0.12908	0.062000	0.15995	-1.881000	0.01626	-1.519000	0.01775	-2.607000	0.00160	AGG		0.647	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855	Missense_Mutation	28	31	0	0	0	1	0	28	31				
MIS18A	54069	broad.mit.edu	37	21	33651140	33651140	+	Silent	SNP	G	G	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr21:33651140G>T	ENST00000290130.3	-	1	240	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	62					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TCTCCATGTCGGCCACCGACG	0.692																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(184-186)gcC>gcA		MIS18 kinetochore protein A							17.0	16.0	16.0					21																	33651140		2200	4296	6496	SO:0001819	synonymous_variant	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651140G>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.186C>A	21.37:g.33651140G>T						MIS18A-AS1_ENST00000453549.1_RNA	p.A62A	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	240	-			62					B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	37	c.186C>A	CCDS13611.1																																																																																				0.692	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		5	0	1	0	0.000602214	1	0.000621959	5	0				
PRPF8	10594	broad.mit.edu	37	17	1563231	1563231	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr17:1563231C>T	ENST00000572621.1	-	30	5115	c.4850G>A	c.(4849-4851)cGa>cAa	p.R1617Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1617Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATATGACTTTCGGGGATGGAT	0.443																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4849-4851)cGa>cAa		pre-mRNA processing factor 8							174.0	143.0	153.0					17																	1563231		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563231C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4850G>A	17.37:g.1563231C>T	ENSP00000460348:p.Arg1617Gln					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1617Q	p.R1617Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5115	-			1617					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4850G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	36	5.719413	0.96839	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82255	-1.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91623	0.5312	10	0.41790	T	0.15	-2.5008	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1617	Q6P2Q9	PRP8_HUMAN	Q	1617;144	ENSP00000304350:R1617Q	ENSP00000304350:R1617Q	R	-	2	0	PRPF8	1509981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.738000	0.84966	2.882000	0.98803	0.655000	0.94253	CGA		0.443	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			24	41	0	0	0	1	0	24	41				
TRAJ10	28745	broad.mit.edu	37	14	23000897	23000897	+	RNA	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr14:23000897A>G	ENST00000390527.1	+	0	0				TRAJ12_ENST00000390525.1_RNA|TRAJ11_ENST00000390526.1_RNA|TRAJ14_ENST00000390523.1_RNA|TRAJ13_ENST00000390524.1_RNA					T cell receptor alpha joining 10																		TGGGATGGATAGCAGCTATAA	0.458																																						ENST00000390525.1																			0																				158.0	154.0	155.0					14																	23000897		1881	4110	5991			0							g.chr14:23000897A>G	M94081		14q11.2	2012-02-07			ENSG00000211879	ENSG00000211879		"""T cell receptors / TRA locus"""	12038	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170957		14.37:g.23000897A>G														0	9	+									RNA	SNP	ENST00000390527.1	37																																																																																						0.458	TRAJ10-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410988.1	NG_001332		30	47	0	0	0	1	0	30	47				
FEM1A	55527	broad.mit.edu	37	19	4792690	4792690	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:4792690C>A	ENST00000269856.3	+	1	963	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	275					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTGCAGCTCCTCCCCAGAG	0.647																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(823-825)tCc>tAc		fem-1 homolog a (C. elegans)							37.0	41.0	40.0					19																	4792690		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792690C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.824C>A	19.37:g.4792690C>A	ENSP00000269856:p.Ser275Tyr					AC005523.2_ENST00000601192.1_RNA	p.S275Y	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	963	+		Hepatocellular(1079;0.137)	275					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.824C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	3.244	-0.154827	0.06544	.	.	ENSG00000141965	ENST00000269856	T	0.68479	-0.33	4.19	-0.11	0.13580	.	9.218410	0.02007	U	0.046716	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.43196	-0.9406	10	0.87932	D	0	.	3.4982	0.07662	0.2177:0.3217:0.3678:0.0929	.	275	Q9BSK4	FEM1A_HUMAN	Y	275	ENSP00000269856:S275Y	ENSP00000269856:S275Y	S	+	2	0	FEM1A	4743690	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	0.662000	0.25038	0.215000	0.20761	0.491000	0.48974	TCC		0.647	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			19	31	1	0	8.00594e-06	1	8.40624e-06	19	31				
ZNF99	7652	broad.mit.edu	37	19	22939396	22939396	+	IGR	SNP	A	A	G	rs577414244	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:22939396A>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.F925F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGATTGCTTAAAAGCTTTGC	0.378													A|||	72	0.014377	0.0499	0.0	5008	,	,		17649	0.004		0.0	False		,,,				2504	0.002					ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2773-2775)ttT>ttC		zinc finger protein 99							37.0	49.0	45.0					19																	22939396		1952	4262	6214	SO:0001628	intergenic_variant	7652							g.chr19:22939396A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939396A>G							p.F925F							7	2774	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2775T>C	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	26	0	0	0	1	0	10	26				
CYP2S1	29785	broad.mit.edu	37	19	41704370	41704370	+	Missense_Mutation	SNP	G	G	A	rs45457494		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:41704370G>A	ENST00000310054.4	+	4	713	c.497G>A	c.(496-498)cGc>cAc	p.R166H	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					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(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCAGGACGCCCATTCGAT	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		17728	0.0		0.001	False		,,,				2504	0.0					ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(496-498)cGc>cAc		cytochrome P450, family 2, subfamily S, polypeptide 1			HIS/ARG	0,4406		0,0,2203	122.0	115.0	117.0		497	-10.3	0.0	19	dbSNP_127	117	31,8569	21.0+/-64.5	0,31,4269	yes	missense	CYP2S1	NM_030622.6	29	0,31,6472	AA,AG,GG		0.3605,0.0,0.2384	benign	166/505	41704370	31,12975	2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704370G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.497G>A	19.37:g.41704370G>A	ENSP00000308032:p.Arg166His					CYP2S1_ENST00000542619.1_Intron	p.R166H	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	713	+			166					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.497G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.866946	0.51588	0.0	0.003605	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68903	-0.36	5.14	-10.3	0.00346	.	2.019370	0.02308	N	0.071858	T	0.59445	0.2194	L	0.58583	1.82	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.52049	-0.8627	10	0.62326	D	0.03	.	11.8986	0.52669	0.6985:0.1885:0.113:0.0	rs45457494;rs61736649	166	Q96SQ9	CP2S1_HUMAN	H	166	ENSP00000308032:R166H	ENSP00000301173:R166H	R	+	2	0	CYP2S1	46396210	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-2.438000	0.01017	-1.765000	0.01303	0.306000	0.20318	CGC		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			47	74	0	0	0	1	0	47	74				
CFAP61	26074	broad.mit.edu	37	20	20269374	20269374	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr20:20269374C>G	ENST00000245957.5	+	23	2994	c.2918C>G	c.(2917-2919)gCc>gGc	p.A973G	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		973										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACGACATAGCCATCAGAGCT	0.428																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2917-2919)gCc>gGc		chromosome 20 open reading frame 26							151.0	139.0	143.0					20																	20269374		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269374C>G																												ENST00000245957.5:c.2918C>G	20.37:g.20269374C>G	ENSP00000245957:p.Ala973Gly					C20orf26_ENST00000377309.2_Intron	p.A973G	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2994	+			973					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2918C>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164719	0.57476	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.35236	1.32	5.75	5.75	0.90469	.	0.449602	0.23426	N	0.048317	T	0.39600	0.1084	L	0.48642	1.525	0.80722	D	1	P	0.46142	0.873	P	0.46452	0.517	T	0.03852	-1.0998	10	0.22706	T	0.39	.	16.4258	0.83814	0.0:0.86:0.14:0.0	.	973	Q8NHU2	CT026_HUMAN	G	913;939;973	ENSP00000245957:A973G	ENSP00000245957:A973G	A	+	2	0	C20orf26	20217374	0.738000	0.28186	1.000000	0.80357	0.964000	0.63967	2.615000	0.46368	2.732000	0.93576	0.650000	0.86243	GCC		0.428	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			47	75	0	0	0	1	0	47	75				
DDX18	8886	broad.mit.edu	37	2	118577297	118577297	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:118577297A>C	ENST00000263239.2	+	3	571	c.443A>C	c.(442-444)gAa>gCa	p.E148A	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	148					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGAAACAGAAAATAATGTG	0.398											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(442-444)gAa>gCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							74.0	74.0	74.0					2																	118577297		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577297A>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.443A>C	2.37:g.118577297A>C	ENSP00000263239:p.Glu148Ala		OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1489	DDX18_ENST00000474694.1_3'UTR	p.E148A	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			3	571	+			148					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.443A>C	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	8.986	0.976607	0.18736	.	.	ENSG00000088205	ENST00000263239	T	0.21543	2.0	4.06	0.025	0.14143	.	1.041390	0.07513	N	0.909231	T	0.17280	0.0415	L	0.51422	1.61	0.21256	N	0.999748	B	0.25563	0.129	B	0.21151	0.033	T	0.31503	-0.9941	10	0.37606	T	0.19	-3.5062	4.1728	0.10337	0.4554:0.3509:0.1937:0.0	.	148	Q9NVP1	DDX18_HUMAN	A	148	ENSP00000263239:E148A	ENSP00000263239:E148A	E	+	2	0	DDX18	118293767	0.555000	0.26530	0.004000	0.12327	0.006000	0.05464	1.190000	0.32126	-0.070000	0.12908	-0.263000	0.10527	GAA		0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		21	18	0	0	0	1	0	21	18				
STYK1	55359	broad.mit.edu	37	12	10777358	10777358	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:10777358G>A	ENST00000075503.3	-	8	1338	c.818C>T	c.(817-819)gCt>gTt	p.A273V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTCATAAGCCAGGCCTAA	0.507										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(817-819)gCt>gTt		serine/threonine/tyrosine kinase 1							206.0	200.0	202.0					12																	10777358		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10777358G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.818C>T	12.37:g.10777358G>A	ENSP00000075503:p.Ala273Val	HNSCC(73;0.22)					p.A273V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			8	1338	-			273			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.818C>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204331	0.79127	.	.	ENSG00000060140	ENST00000075503	T	0.73789	-0.78	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.85496	0.5710	M	0.79343	2.45	0.58432	D	0.999993	D	0.56746	0.977	D	0.67382	0.951	D	0.87537	0.2456	10	0.87932	D	0	-12.8068	15.8643	0.79052	0.0:0.0:1.0:0.0	.	273	Q6J9G0	STYK1_HUMAN	V	273	ENSP00000075503:A273V	ENSP00000075503:A273V	A	-	2	0	STYK1	10668625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.436000	0.73417	2.419000	0.82065	0.655000	0.94253	GCT		0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		50	89	0	0	0	1	0	50	89				
KRT3	3850	broad.mit.edu	37	12	53185077	53185077	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:53185077C>T	ENST00000417996.2	-	7	1522	c.1448G>A	c.(1447-1449)cGt>cAt	p.R483H	KRT3_ENST00000309505.3_Missense_Mutation_p.R483H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	483	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R483H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGGTAGTCACGTAGCAGCCG	0.607																																						ENST00000417996.2																			1	Substitution - Missense(1)	p.R483H(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1447-1449)cGt>cAt		keratin 3							101.0	94.0	97.0					12																	53185077		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185077C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1448G>A	12.37:g.53185077C>T	ENSP00000413479:p.Arg483His					KRT3_ENST00000309505.3_Missense_Mutation_p.R483H	p.R483H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1522	-			483			Coil 2.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1448G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263047	0.39995	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.77489	-1.1;-1.1	4.71	2.82	0.32997	Filament (1);	0.811911	0.10179	N	0.706066	T	0.80412	0.4618	M	0.79011	2.435	0.09310	N	0.999991	D	0.61080	0.989	P	0.51324	0.666	T	0.68926	-0.5280	10	0.72032	D	0.01	.	3.1528	0.06494	0.1844:0.4633:0.0:0.3523	.	483	P12035	K2C3_HUMAN	H	483	ENSP00000413479:R483H;ENSP00000312206:R483H	ENSP00000312206:R483H	R	-	2	0	KRT3	51471344	0.000000	0.05858	0.189000	0.23252	0.176000	0.22953	0.409000	0.21082	0.666000	0.31087	-0.258000	0.10820	CGT		0.607	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		42	67	0	0	0	1	0	42	67				
XRCC6	2547	broad.mit.edu	37	22	42042990	42042990	+	Silent	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr22:42042990C>T	ENST00000359308.4	+	6	1519	c.864C>T	c.(862-864)ctC>ctT	p.L288L	Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000402580.3_Silent_p.L247L|XRCC6_ENST00000405878.1_Silent_p.L288L|XRCC6_ENST00000428575.2_Silent_p.L155L|XRCC6_ENST00000360079.3_Silent_p.L288L|XRCC6_ENST00000405506.1_Silent_p.L238L			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	288	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAATAAAGCTCTATCGGGAAA	0.458								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(862-864)ctC>ctT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							129.0	140.0	136.0					22																	42042990		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042990C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.864C>T	22.37:g.42042990C>T						XRCC6_ENST00000405506.1_Silent_p.L238L|XRCC6_ENST00000405878.1_Silent_p.L288L|XRCC6_ENST00000428575.2_Silent_p.L155L|XRCC6_ENST00000402580.3_Silent_p.L247L|XRCC6_ENST00000360079.3_Silent_p.L288L	p.L288L			P12956	XRCC6_HUMAN			6	1519	+			288			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.864C>T	CCDS14021.1																																																																																				0.458	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		65	112	0	0	0	1	0	65	112				
C2CD5	9847	broad.mit.edu	37	12	22646232	22646232	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:22646232C>T	ENST00000333957.4	-	11	1442	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	C2CD5_ENST00000544930.1_Missense_Mutation_p.R211K|C2CD5_ENST00000542676.1_Missense_Mutation_p.R396K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R409K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R396K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R398K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R387K	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	396					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TATTTCTTGTCTGATTTCTGC	0.328																																						ENST00000333957.4																			0											c.(1186-1188)aGa>aAa		C2 calcium-dependent domain containing 5							258.0	224.0	236.0					12																	22646232		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22646232C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1187G>A	12.37:g.22646232C>T	ENSP00000334229:p.Arg396Lys					C2CD5_ENST00000542676.1_Missense_Mutation_p.R396K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R398K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R396K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R409K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R387K|C2CD5_ENST00000544930.1_Missense_Mutation_p.R211K	p.R396K	NM_014802.1	NP_055617.1					11	1442	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1187G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450820	0.96205	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.996;0.999	D;D;D;D;D;D	0.87578	0.998;0.996;0.995;0.996;0.99;0.991	T	0.71324	-0.4627	10	0.51188	T	0.08	-21.2605	18.0362	0.89303	0.0:1.0:0.0:0.0	.	398;396;211;398;387;396	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	K	396;396;398;387;396;409;211	ENSP00000334229:R396K;ENSP00000388756:R396K;ENSP00000439392:R398K;ENSP00000379345:R387K;ENSP00000441951:R396K;ENSP00000443204:R409K;ENSP00000445288:R211K	ENSP00000334229:R396K	R	-	2	0	KIAA0528	22537499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.694000	0.91930	0.585000	0.79938	AGA		0.328	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		4	108	0	0	0	1	0	4	108				
ARHGEF5	7984	broad.mit.edu	37	7	144062368	144062368	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:144062368A>G	ENST00000056217.5	+	2	2780	c.2606A>G	c.(2605-2607)cAt>cGt	p.H869R	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	869					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CGGGGAGGACATATGAACTCA	0.622																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2605-2607)cAt>cGt		Rho guanine nucleotide exchange factor (GEF) 5							69.0	80.0	76.0					7																	144062368		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062368A>G	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2606A>G	7.37:g.144062368A>G	ENSP00000056217:p.His869Arg						p.H869R	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	2780	+	Melanoma(164;0.14)		869					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2606A>G	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.922|1.922	-0.448112|-0.448112	0.04572|0.04572	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217|ENST00000474817	T|.	0.72394|.	-0.65|.	4.27|4.27	1.78|1.78	0.24846|0.24846	.|.	0.737757|.	0.11554|.	N|.	0.552482|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22414|.	0.069|.	B|.	0.20384|.	0.029|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.23891|.	T|.	0.37|.	-7.973|-7.973	3.5049|3.5049	0.07686|0.07686	0.2072:0.1124:0.0:0.6804|0.2072:0.1124:0.0:0.6804	.|.	869|.	Q12774|.	ARHG5_HUMAN|.	R|V	869|123	ENSP00000056217:H869R|.	ENSP00000056217:H869R|.	H|I	+|+	2|1	0|0	ARHGEF5|ARHGEF5	143693301|143693301	0.004000|0.004000	0.15560|0.15560	0.136000|0.136000	0.22124|0.22124	0.027000|0.027000	0.11550|0.11550	1.108000|1.108000	0.31123|0.31123	0.678000|0.678000	0.31325|0.31325	-0.542000|-0.542000	0.04241|0.04241	CAT|ATA		0.622	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	94	0	0	0	1	0	4	94				
SPAG9	9043	broad.mit.edu	37	17	49057179	49057179	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr17:49057179G>C	ENST00000262013.7	-	26	3545	c.3337C>G	c.(3337-3339)Cgt>Ggt	p.R1113G	SPAG9_ENST00000357122.4_Missense_Mutation_p.R1099G|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1103G|SPAG9_ENST00000510283.1_Missense_Mutation_p.R956G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1113					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATAGAGACGGAGCGTAGAA	0.478																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3337-3339)Cgt>Ggt		sperm associated antigen 9							227.0	184.0	198.0					17																	49057179		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49057179G>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3337C>G	17.37:g.49057179G>C	ENSP00000262013:p.Arg1113Gly					SPAG9_ENST00000510283.1_Missense_Mutation_p.R956G|SPAG9_ENST00000357122.4_Missense_Mutation_p.R1099G|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1103G	p.R1113G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		26	3545	-			1113					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3337C>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799101	0.90538	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76621	-0.2892	10	0.87932	D	0	-12.3769	19.9144	0.97043	0.0:0.0:1.0:0.0	.	1103;1113;1099;956	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	G	1113;870;860;956;1103;1099;711	ENSP00000262013:R1113G;ENSP00000423165:R956G;ENSP00000426900:R1103G;ENSP00000349636:R1099G	ENSP00000262013:R1113G	R	-	1	0	SPAG9	46412178	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	3.522000	0.53480	2.716000	0.92895	0.491000	0.48974	CGT		0.478	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		29	55	0	0	0	1	0	29	55				
PCDHA13	56136	broad.mit.edu	37	5	140262056	140262056	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:140262056C>G	ENST00000289272.2	+	1	203	c.203C>G	c.(202-204)tCc>tGc	p.S68C	PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S68C|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	68	Cadherin 1. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGCGTCCAAAAGACAC	0.627																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(202-204)tCc>tGc									50.0	60.0	57.0					5																	140262056		2200	4276	6476	SO:0001583	missense	0							g.chr5:140262056C>G	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.203C>G	5.37:g.140262056C>G	ENSP00000289272:p.Ser68Cys					PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S68C|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.S68C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	203	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.203C>G	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301271	0.40694	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.44083	0.93;0.93	5.36	5.36	0.76844	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.75148	0.3810	H	0.95884	3.735	0.33468	D	0.58584	P;D;D	0.55172	0.945;0.97;0.962	P;D;P	0.63381	0.575;0.914;0.536	D	0.86823	0.2006	9	0.66056	D	0.02	.	18.7411	0.91773	0.0:1.0:0.0:0.0	.	68;68;68	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	68	ENSP00000386821:S68C;ENSP00000289272:S68C	ENSP00000289272:S68C	S	+	2	0	PCDHA13	140242240	0.000000	0.05858	1.000000	0.80357	0.469000	0.32828	0.686000	0.25392	2.514000	0.84764	0.556000	0.70494	TCC		0.627	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	168	0	0	0	1	0	5	168				
COLGALT1	79709	broad.mit.edu	37	19	17688065	17688065	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:17688065G>C	ENST00000252599.4	+	7	1131	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	337					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CACCGGACAAGATGGGCTTCG	0.672																																						ENST00000252599.4																			0											c.(1009-1011)aaG>aaC		collagen beta(1-O)galactosyltransferase 1							37.0	37.0	37.0					19																	17688065		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17688065G>C	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1011G>C	19.37:g.17688065G>C	ENSP00000252599:p.Lys337Asn						p.K337N	NM_024656.2	NP_078932.2					7	1131	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1011G>C	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460612	0.43736	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.79454	-1.27	4.71	3.66	0.41972	.	0.048127	0.85682	D	0.000000	D	0.83852	0.5344	M	0.88775	2.98	0.54753	D	0.999988	P;P	0.52692	0.644;0.955	P;P	0.52598	0.461;0.703	D	0.85729	0.1330	10	0.72032	D	0.01	-4.7187	8.1977	0.31407	0.1102:0.0:0.8898:0.0	.	65;337	E9PC06;Q8NBJ5	.;GT251_HUMAN	N	65;337	ENSP00000252599:K337N	ENSP00000252599:K337N	K	+	3	2	GLT25D1	17549065	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	0.808000	0.27154	2.347000	0.79759	0.579000	0.79373	AAG		0.672	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		9	25	0	0	0	1	0	9	25				
CES5A	221223	broad.mit.edu	37	16	55907858	55907858	+	Silent	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr16:55907858G>A	ENST00000290567.9	-	2	286	c.165C>T	c.(163-165)aaC>aaT	p.N55N	CES5A_ENST00000520435.1_Silent_p.N55N|CES5A_ENST00000521992.1_Silent_p.N84N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_De_novo_Start_InFrame|CES5A_ENST00000319165.9_Silent_p.N55N	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	55						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGAGGAACACGTTCACAGGCA	0.612																																						ENST00000518005.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39								carboxylesterase 5A							86.0	74.0	78.0					16																	55907858		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907858G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.165C>T	16.37:g.55907858G>A						CES5A_ENST00000290567.9_Silent_p.N55N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000521992.1_Silent_p.N84N|CES5A_ENST00000520435.1_Silent_p.N55N|CES5A_ENST00000319165.9_Silent_p.N55N				Q6NT32	EST5A_HUMAN			0	229	-								B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Translation_Start_Site	SNP	ENST00000290567.9	37		CCDS45490.1																																																																																				0.612	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		6	10	0	0	0	1	0	6	10				
CD69	969	broad.mit.edu	37	12	9913370	9913370	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:9913370G>C	ENST00000228434.3	-	1	127	c.47C>G	c.(46-48)cCg>cGg	p.P16R	CD69_ENST00000536709.1_Missense_Mutation_p.P16R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	16					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCCACTCTCCGGATGCAAAGA	0.363																																						ENST00000228434.3																			0				endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(46-48)cCg>cGg		CD69 molecule							157.0	143.0	148.0					12																	9913370		2203	4300	6503	SO:0001583	missense	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913370G>C	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.47C>G	12.37:g.9913370G>C	ENSP00000228434:p.Pro16Arg					CD69_ENST00000536709.1_Missense_Mutation_p.P16R	p.P16R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN			1	127	-			16						Missense_Mutation	SNP	ENST00000228434.3	37	c.47C>G	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	G	5.376	0.254616	0.10185	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.01527	5.13;4.8	5.0	-1.89	0.07689	.	0.859911	0.09869	N	0.745178	T	0.02083	0.0065	L	0.44542	1.39	0.09310	N	0.999998	P;P	0.41624	0.757;0.591	B;B	0.43123	0.409;0.149	T	0.43310	-0.9399	9	.	.	.	6.332	4.6871	0.12762	0.4013:0.0:0.4354:0.1633	.	16;16	B4E0H7;Q07108	.;CD69_HUMAN	R	16	ENSP00000228434:P16R;ENSP00000442597:P16R	.	P	-	2	0	CD69	9804637	0.000000	0.05858	0.142000	0.22268	0.161000	0.22273	-0.432000	0.06956	-0.397000	0.07691	-0.302000	0.09304	CCG		0.363	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			26	50	0	0	0	1	0	26	50				
NEB	4703	broad.mit.edu	37	2	152420177	152420177	+	Silent	SNP	C	C	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:152420177C>G	ENST00000172853.10	-	91	13680	c.13533G>C	c.(13531-13533)gtG>gtC	p.V4511V	NEB_ENST00000409198.1_Silent_p.V4511V|NEB_ENST00000397345.3_Silent_p.V6212V|NEB_ENST00000604864.1_Silent_p.V6212V|NEB_ENST00000427231.2_Silent_p.V6212V|NEB_ENST00000603639.1_Silent_p.V6212V			P20929	NEBU_HUMAN	nebulin	4511					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTCACCGATCACTTTTCCAG	0.433																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18634-18636)gtG>gtC		nebulin							336.0	314.0	321.0					2																	152420177		1917	4134	6051	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420177C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13533G>C	2.37:g.152420177C>G						NEB_ENST00000603639.1_Silent_p.V6212V|NEB_ENST00000409198.1_Silent_p.V4511V|NEB_ENST00000427231.2_Silent_p.V6212V|NEB_ENST00000604864.1_Silent_p.V6212V|NEB_ENST00000172853.10_Silent_p.V4511V	p.V6212V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18838	-			6194					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18636G>C																																																																																					0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	224	0	0	0	1	0	17	224				
SLC4A9	83697	broad.mit.edu	37	5	139745496	139745496	+	Silent	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:139745496C>T	ENST00000230993.6	+	13	1895	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	SLC4A9_ENST00000507527.1_Silent_p.G620G|SLC4A9_ENST00000506757.2_Silent_p.G596G|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Silent_p.G582G	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	620	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCCTGGCTGTCATACAG	0.557																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(1858-1860)ggC>ggT		solute carrier family 4, sodium bicarbonate cotransporter, member 9							200.0	204.0	203.0					5																	139745496		2034	4184	6218	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139745496C>T	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1860C>T	5.37:g.139745496C>T						SLC4A9_ENST00000507527.1_Silent_p.G620G|SLC4A9_ENST00000506757.2_Silent_p.G596G|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Silent_p.G582G	p.G620G	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1895	+			620			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.1860C>T	CCDS58973.1																																																																																				0.557	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		54	100	0	0	0	1	0	54	100				
SLC44A4	80736	broad.mit.edu	37	6	31832450	31832450	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr6:31832450C>T	ENST00000229729.6	-	20	2010	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.D588N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622N	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	664					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAGAGCGTGTCCACACACATG	0.522																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1762-1764)Gac>Aac		solute carrier family 44, member 4	Choline(DB00122)						108.0	115.0	112.0					6																	31832450		1511	2709	4220	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832450C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1990G>A	6.37:g.31832450C>T	ENSP00000229729:p.Asp664Asn					SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622N|SLC44A4_ENST00000229729.6_Missense_Mutation_p.D664N	p.D588N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			20	2058	-			664					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1762G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027729	0.93518	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.28255	1.62;1.62;1.62	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	H	0.95780	3.72	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75578	-0.3269	10	0.87932	D	0	-11.349	17.0471	0.86507	0.0:1.0:0.0:0.0	.	664	Q53GD3	CTL4_HUMAN	N	664;622;588	ENSP00000229729:D664N;ENSP00000364712:D622N;ENSP00000444109:D588N	ENSP00000229729:D664N	D	-	1	0	SLC44A4	31940429	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.502000	0.66956	2.549000	0.85964	0.561000	0.74099	GAC		0.522	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			26	65	0	0	0	1	0	26	65				
BBX	56987	broad.mit.edu	37	3	107497259	107497259	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:107497259G>A	ENST00000325805.8	+	13	2383	c.2096G>A	c.(2095-2097)aGc>aAc	p.S699N	BBX_ENST00000402543.1_Missense_Mutation_p.S699N|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Missense_Mutation_p.S699N|BBX_ENST00000415149.2_Missense_Mutation_p.S699N|BBX_ENST00000416476.2_Missense_Mutation_p.A363T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	699	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAATTCAACAGCCTCCCTCAA	0.408																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(2095-2097)aGc>aAc		bobby sox homolog (Drosophila)							86.0	88.0	87.0					3																	107497259		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497259G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2096G>A	3.37:g.107497259G>A	ENSP00000319974:p.Ser699Asn					BBX_ENST00000325805.8_Missense_Mutation_p.S699N|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Missense_Mutation_p.S699N|BBX_ENST00000406780.1_Missense_Mutation_p.S699N|BBX_ENST00000416476.2_Missense_Mutation_p.A363T	p.S699N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2423	+			699			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2096G>A	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.065760|4.065760	0.76187|0.76187	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	D|T;T;T;T	0.99005|0.37235	-5.32|1.21;1.21;1.21;1.21	5.92|5.92	5.05|5.05	0.67936|0.67936	.|.	.|0.037581	.|0.85682	.|N	.|0.000000	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.34521|0.34521	1.04|1.04	0.47778|0.47778	D|D	0.999512|0.999512	B;B|D;D	0.32203|0.89917	0.36;0.18|1.0;0.992	B;B|D;D	0.38655|0.87578	0.278;0.03|0.998;0.961	T|T	0.53373|0.53373	-0.8448|-0.8448	9|10	0.87932|0.87932	D|D	0|0	-4.6297|-4.6297	14.8457|14.8457	0.70259|0.70259	0.0686:0.0:0.9313:0.0|0.0686:0.0:0.9313:0.0	.|.	10;363|699;699	Q9NRU5;A2RRM7|Q8WY36;Q8WY36-2	.;.|BBX_HUMAN;.	T|N	363|699	ENSP00000403860:A363T|ENSP00000408358:S699N;ENSP00000385317:S699N;ENSP00000319974:S699N;ENSP00000385530:S699N	ENSP00000403860:A363T|ENSP00000319974:S699N	A|S	+|+	1|2	0|0	BBX|BBX	108979949|108979949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.654000|7.654000	0.83653|0.83653	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.408	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		33	56	0	0	0	1	0	33	56				
AKR1C3	8644	broad.mit.edu	37	10	5139704	5139704	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:5139704G>A	ENST00000380554.3	+	3	983	c.331G>A	c.(331-333)Gtt>Att	p.V111I	AKR1C3_ENST00000439082.2_De_novo_Start_OutOfFrame|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88I|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	111					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATTGGACTATGTTGACCTCTA	0.403																																						ENST00000439082.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14								aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						146.0	138.0	141.0					10																	5139704		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5139704G>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.331G>A	10.37:g.5139704G>A	ENSP00000369927:p.Val111Ile					AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88I|AKR1C3_ENST00000380554.3_Missense_Mutation_p.V111I				P42330	AK1C3_HUMAN			0	444	+								A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Translation_Start_Site	SNP	ENST00000380554.3	37		CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	3.380	-0.126645	0.06795	.	.	ENSG00000196139	ENST00000380554	T	0.45276	0.9	1.62	0.671	0.17929	NADP-dependent oxidoreductase domain (3);	0.237158	0.29558	N	0.011809	T	0.24005	0.0581	N	0.13140	0.3	0.80722	D	1	B;B;B	0.30326	0.276;0.02;0.02	B;B;B	0.37387	0.248;0.078;0.078	T	0.03773	-1.1005	10	0.44086	T	0.13	.	4.0982	0.10002	0.3926:0.0:0.6074:0.0	.	111;111;111	B4DKT3;P42330;Q2XPP3	.;AK1C3_HUMAN;.	I	111	ENSP00000369927:V111I	ENSP00000369927:V111I	V	+	1	0	AKR1C3	5129704	1.000000	0.71417	0.072000	0.20136	0.187000	0.23431	2.141000	0.42168	0.234000	0.21139	0.305000	0.20034	GTT		0.403	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		34	46	0	0	0	1	0	34	46				
SNHG14	104472715	broad.mit.edu	37	15	25326458	25326458	+	RNA	SNP	A	A	G			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:25326458A>G	ENST00000546682.1	+	0	71				SNORD116-14_ENST00000383894.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-13_ENST00000384408.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTCCATATATACATTCCTTGG	0.463																																						ENST00000546682.1																			0																				233.0	211.0	218.0					15																	25326458		876	1991	2867			0							g.chr15:25326458A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25326458A>G						SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	71	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.463	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			4	219	0	0	0	1	0	4	219				
CCDC37	348807	broad.mit.edu	37	3	126135240	126135240	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:126135240C>T	ENST00000352312.1	+	5	406	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W|CCDC37_ENST00000393425.1_Missense_Mutation_p.R103W	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	103										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CACCAGCCTGCGGCGGCAGCT	0.662																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(307-309)Cgg>Tgg		coiled-coil domain containing 37							28.0	27.0	27.0					3																	126135240		2184	4264	6448	SO:0001583	missense	348807							g.chr3:126135240C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.307C>T	3.37:g.126135240C>T	ENSP00000344749:p.Arg103Trp					CCDC37_ENST00000352312.1_Missense_Mutation_p.R103W|CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W	p.R103W			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	5	406	+			103					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.307C>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455451	0.43634	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.36520	1.25;1.33;1.33	4.59	4.59	0.56863	.	0.214881	0.34314	N	0.004072	T	0.54367	0.1854	M	0.65498	2.005	0.20074	N	0.999935	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.50056	-0.8872	10	0.87932	D	0	-19.2008	12.8856	0.58042	0.0:1.0:0.0:0.0	.	103;103	Q494V2-2;Q494V2	.;CCD37_HUMAN	W	103	ENSP00000344749:R103W;ENSP00000377076:R103W;ENSP00000423046:R103W	ENSP00000344749:R103W	R	+	1	2	CCDC37	127617930	0.528000	0.26314	0.876000	0.34364	0.009000	0.06853	1.603000	0.36794	2.102000	0.63906	0.491000	0.48974	CGG		0.662	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		3	39	0	0	0	1	0	3	39				
PCDHB8	56128	broad.mit.edu	37	5	140558166	140558166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:140558166G>A	ENST00000239444.2	+	1	796	c.551G>A	c.(550-552)cGc>cAc	p.R184H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	184	Cadherin 2. {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)	p.R184H(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTCACCCGCAAACGCAGT	0.483																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.R184H(1)	kidney(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(550-552)cGc>cAc									38.0	59.0	52.0					5																	140558166		2200	4297	6497	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558166G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.551G>A	5.37:g.140558166G>A	ENSP00000239444:p.Arg184His						p.R184H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	796	+			184			Cadherin 2.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.551G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	7.040	0.562271	0.13498	.	.	ENSG00000120322	ENST00000239444	T	0.20598	2.06	4.25	3.38	0.38709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15478	0.0373	L	0.39514	1.22	0.09310	N	1	B	0.24258	0.1	B	0.24269	0.052	T	0.25882	-1.0119	9	0.30854	T	0.27	.	4.629	0.12491	0.1865:0.0:0.6385:0.175	.	184	Q9UN66	PCDB8_HUMAN	H	184	ENSP00000239444:R184H	ENSP00000239444:R184H	R	+	2	0	PCDHB8	140538350	0.000000	0.05858	0.120000	0.21714	0.898000	0.52572	0.457000	0.21875	0.778000	0.33520	-0.225000	0.12378	CGC		0.483	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		4	116	0	0	0	1	0	4	116				
ZNF577	84765	broad.mit.edu	37	19	52376325	52376325	+	Silent	SNP	G	G	C			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:52376325G>C	ENST00000301399.5	-	7	1283	c.918C>G	c.(916-918)acC>acG	p.T306T	ZNF577_ENST00000451628.2_Silent_p.T247T|ZNF577_ENST00000420592.1_Silent_p.T247T|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAAAATAGAAGGTTCTTCCAC	0.433																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(739-741)acC>acG		zinc finger protein 577							100.0	97.0	98.0					19																	52376325		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376325G>C	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.918C>G	19.37:g.52376325G>C						ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.T247T|ZNF577_ENST00000301399.5_Silent_p.T306T|ZNF577_ENST00000412216.1_Intron	p.T247T			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2074	-		all_neural(266;0.0602)	306					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.741C>G	CCDS12842.2																																																																																				0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		22	56	0	0	0	1	0	22	56				
CYP4Z1	199974	broad.mit.edu	37	1	47583591	47583591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:47583591delA	ENST00000334194.3	+	12	1506	c.1503delA	c.(1501-1503)gcafs	p.A501fs	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	501						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGTGTTTGCAAAAAAAGTTT	0.383																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1501-1503)gcfs		cytochrome P450, family 4, subfamily Z, polypeptide 1							53.0	48.0	50.0					1																	47583591		2203	4300	6503	SO:0001589	frameshift_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583591delA	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1503delA	1.37:g.47583591delA	ENSP00000334246:p.Ala501fs					CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	p.A501fs	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			12	1506	+			501					Q5VVE4	Frame_Shift_Del	DEL	ENST00000334194.3	37	c.1503delA	CCDS545.1																																																																																				0.383	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		7	27						7	27	---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125550359	125550359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr6:125550359delT	ENST00000534000.1	+	3	527	c.231delT	c.(229-231)aatfs	p.N77fs	TPD52L1_ENST00000304877.13_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000528193.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368388.2_Frame_Shift_Del_p.N77fs|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000368402.5_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000527711.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000534199.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000532429.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000524679.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000392482.2_Frame_Shift_Del_p.N48fs	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	77					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACCTGATGAATGAATTAAAAC	0.388																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(229-231)aafs		tumor protein D52-like 1							106.0	99.0	102.0					6																	125550359		2203	4300	6503	SO:0001589	frameshift_variant	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125550359delT	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.231delT	6.37:g.125550359delT	ENSP00000434142:p.Asn77fs					TPD52L1_ENST00000532429.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000392482.2_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000524679.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000528193.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368388.2_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000527711.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000304877.13_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368402.5_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000534199.1_Frame_Shift_Del_p.N48fs	p.N77fs	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	3	527	+			77					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Frame_Shift_Del	DEL	ENST00000534000.1	37	c.231delT	CCDS5130.1																																																																																				0.388	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			43	56						43	56	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96639271	96639271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:96639271delG	ENST00000518156.2	+	3	1224	c.794delG	c.(793-795)agtfs	p.S265fs	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Frame_Shift_Del_p.S137fs|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Frame_Shift_Del_p.S237fs			P56179	DLX6_HUMAN	distal-less homeobox 6	147					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AAGGGTGTCAGTATGCCCCCC	0.627																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(793-795)atfs		distal-less homeobox 6							35.0	37.0	36.0					7																	96639271		2180	4291	6471	SO:0001589	frameshift_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639271delG		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.794delG	7.37:g.96639271delG	ENSP00000428480:p.Ser265fs					DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Frame_Shift_Del_p.S237fs|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Frame_Shift_Del_p.S137fs	p.S265fs			P56179	DLX6_HUMAN			3	1224	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		147					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Frame_Shift_Del	DEL	ENST00000518156.2	37	c.794delG	CCDS47647.2																																																																																				0.627	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		21	12						21	12	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99123549	99123550	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:99123549_99123550delTT	ENST00000394170.2	+	6	1137_1138	c.886_887delTT	c.(886-888)tttfs	p.F296fs	ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.F296fs|ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.F296fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGATCCAGACTTTGCAGAAGTC	0.5																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(886-888)tfs		zinc finger with KRAB and SCAN domains 5																																				SO:0001589	frameshift_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123549_99123550delTT	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.886_887delTT	7.37:g.99123549_99123550delTT	ENSP00000377725:p.Phe296fs					ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.F296fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.F296fs	p.F296fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1137_1138	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		296					A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	c.886_887delTT	CCDS5667.1																																																																																				0.500	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		21	88						21	88	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53162773	53162775	+	In_Frame_Del	DEL	ACT	ACT	-	rs1464423|rs370657661|rs576463918|rs201384439	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:53162773_53162775delACT	ENST00000332411.2	-	9	1692_1694	c.1639_1641delAGT	c.(1639-1641)agtdel	p.S547del		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	547	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S547_G548insS(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctccatagccactgctgctgctg	0.635																																						ENST00000332411.2																			1	Insertion - In frame(1)	p.S547_G548insS(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1639-1641)del		keratin 76																																				SO:0001651	inframe_deletion	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162773_53162775delACT	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1639_1641delAGT	12.37:g.53162773_53162775delACT	ENSP00000330101:p.Ser547del						p.S547del	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1692_1694	-			547			Tail.		B4DRR3|Q7Z795	In_Frame_Del	DEL	ENST00000332411.2	37	c.1639_1641delAGT	CCDS8838.1																																																																																				0.635	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		2	4						2	4	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33261122	33261123	+	In_Frame_Ins	INS	-	-	CAA			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:33261122_33261123insCAA	ENST00000559047.1	-	5	2778_2779	c.2779_2780insTTG	c.(2779-2781)cca>cTTGca	p.927_927P>LA	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_In_Frame_Ins_p.704_704P>LA|FMN1_ENST00000561249.1_In_Frame_Ins_p.829_829P>LA			Q68DA7	FMN1_HUMAN	formin 1	927	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAgtgggggtgggggtgggggt	0.673																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2110-2112)acc>TTGacc		formin 1																																				SO:0001652	inframe_insertion	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261122_33261123insCAA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2779_2780insTTG	15.37:g.33261122_33261123insCAA	ENSP00000454047:p.Pro927delinsLeuAla					FMN1_ENST00000561249.1_In_Frame_Ins_p.828_829insL|FMN1_ENST00000559047.1_In_Frame_Ins_p.926_927insL	p.703_704insL	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2109_2110	-		all_lung(180;1.14e-07)	926			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	In_Frame_Ins	INS	ENST00000559047.1	37	c.2110_2111insTTG																																																																																					0.673	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		2	4						2	4	---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45368212	45368215	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr18:45368212_45368215delAGCA	ENST00000402690.2	-	11	1781_1784	c.1387_1390delTGCT	c.(1387-1392)tgctcafs	p.CS463fs	SMAD2_ENST00000356825.4_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000586040.1_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000262160.6_Frame_Shift_Del_p.CS463fs	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	463	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GACATGCTTGAGCAACGCACTGAA	0.431																																						ENST00000402690.2																			1	Deletion - Frameshift(1)	p.R462fs*>4(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1387-1392)cafs		SMAD family member 2																																				SO:0001589	frameshift_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368212_45368215delAGCA	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1387_1390delTGCT	18.37:g.45368212_45368215delAGCA	ENSP00000384449:p.Cys463fs					SMAD2_ENST00000586040.1_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000262160.6_Frame_Shift_Del_p.CS463fs|SMAD2_ENST00000356825.4_Frame_Shift_Del_p.CS433fs	p.CS463fs	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1781_1784	-			463			MH2.			Frame_Shift_Del	DEL	ENST00000402690.2	37	c.1387_1390delTGCT	CCDS11934.1																																																																																				0.431	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		14	45						14	45	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		7	56						7	56	---	---	---	---
