#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
XPO5	57510	broad.mit.edu	37	6	43496612	43496612	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:43496612G>T	ENST00000265351.7	-	24	2939	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	910					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATACCAGGGCTTCATAGTG	0.478																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2728-2730)gCc>gAc		exportin 5							54.0	56.0	56.0					6																	43496612		1888	4104	5992	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43496612G>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2729C>A	6.37:g.43496612G>T	ENSP00000265351:p.Ala910Asp					POLR1C_ENST00000304004.3_Intron	p.A910D	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		24	2939	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		910					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2729C>A	CCDS47430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.257113|3.257113	0.59321|0.59321	.|.	.|.	ENSG00000124571|ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465|ENST00000455285	T|.	0.66099|.	-0.19|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.272209|.	0.39475|.	N|.	0.001348|.	T|T	0.23289|0.23289	0.0563|0.0563	N|N	0.03608|0.03608	-0.345|-0.345	0.36695|0.36695	D|D	0.87981|0.87981	B|.	0.19817|.	0.039|.	B|.	0.16722|.	0.016|.	T|T	0.23190|0.23190	-1.0195|-1.0195	10|5	0.10636|.	T|.	0.68|.	-0.5402|-0.5402	18.3382|18.3382	0.90295|0.90295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	910|.	Q9HAV4|.	XPO5_HUMAN|.	D|T	910;615;450;538|14	ENSP00000265351:A910D|.	ENSP00000265351:A910D|.	A|P	-|-	2|1	0|0	XPO5|XPO5	43604590|43604590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.575000|4.575000	0.60908|0.60908	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.478	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		4	45	1	0	2.56e-06	1	2.61525e-06	4	45				
SPTBN5	51332	broad.mit.edu	37	15	42180130	42180130	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42180130G>C	ENST00000320955.6	-	5	882	c.655C>G	c.(655-657)Cac>Gac	p.H219D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	219	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCACACCTGTGGGCATGGATG	0.602																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(655-657)Cac>Gac		spectrin, beta, non-erythrocytic 5							34.0	36.0	36.0					15																	42180130		2028	4172	6200	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42180130G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.655C>G	15.37:g.42180130G>C	ENSP00000317790:p.His219Asp						p.H219D	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	5	882	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	219			Actin-binding.|CH 2.			Missense_Mutation	SNP	ENST00000320955.6	37	c.655C>G		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186789	0.78789	.	.	ENSG00000137877	ENST00000320955	D	0.95035	-3.59	3.96	3.96	0.45880	Calponin homology domain (5);	0.183014	0.33553	N	0.004787	D	0.98118	0.9379	H	0.97315	3.98	0.51233	D	0.999918	D	0.76494	0.999	D	0.73708	0.981	D	0.99120	1.0849	10	0.87932	D	0	.	14.0002	0.64429	0.0:0.0:1.0:0.0	.	219	Q9NRC6	SPTN5_HUMAN	D	219	ENSP00000317790:H219D	ENSP00000317790:H219D	H	-	1	0	SPTBN5	39967422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.413000	0.90235	2.020000	0.59435	0.563000	0.77884	CAC		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	22	0	0	0	1	0	7	22				
PLA2G4F	255189	broad.mit.edu	37	15	42438416	42438416	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42438416G>A	ENST00000382396.4	-	14	1529	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PLA2G4F_ENST00000397272.3_Silent_p.D483D			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	481	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTGTTGGTCAGACAGCT	0.612																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1447-1449)gaC>gaT		phospholipase A2, group IVF							70.0	66.0	67.0					15																	42438416		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42438416G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1443C>T	15.37:g.42438416G>A						PLA2G4F_ENST00000382396.4_Silent_p.D481D	p.D483D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	14	1540	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	481			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1449C>T	CCDS32204.1																																																																																				0.612	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		5	104	0	0	0	1	0	5	104				
LYST	1130	broad.mit.edu	37	1	235950608	235950608	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:235950608T>C	ENST00000389794.3	-	14	4928	c.4754A>G	c.(4753-4755)aAt>aGt	p.N1585S	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N1585S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGGAAAATATTCTCCTGTGA	0.413																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4753-4755)aAt>aGt		lysosomal trafficking regulator							203.0	199.0	201.0					1																	235950608		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950608T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4754A>G	1.37:g.235950608T>C	ENSP00000374444:p.Asn1585Ser					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N1585S	p.N1585S			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4928	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1585					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4754A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456474	0.63401	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.86	4.74	0.60224	.	0.402292	0.32473	N	0.006045	T	0.60983	0.2311	M	0.65975	2.015	0.80722	D	1	D	0.54964	0.969	B	0.42995	0.404	T	0.64884	-0.6302	10	0.62326	D	0.03	.	11.6999	0.51564	0.0:0.0689:0.0:0.9311	.	1585	Q99698	LYST_HUMAN	S	1585	ENSP00000374444:N1585S;ENSP00000374443:N1585S	ENSP00000374443:N1585S	N	-	2	0	LYST	234017231	0.997000	0.39634	0.969000	0.41365	0.993000	0.82548	2.933000	0.48948	1.055000	0.40461	0.477000	0.44152	AAT		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			17	343	0	0	0	1	0	17	343				
CYSLTR1	10800	broad.mit.edu	37	X	77528954	77528954	+	Missense_Mutation	SNP	C	C	T	rs199711042		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:77528954C>T	ENST00000373304.3	-	3	582	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	97					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGTGCTGAGGCGGCACAAGAA	0.443																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(289-291)cGc>cAc		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						61.0	48.0	52.0					X																	77528954		2202	4300	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528954C>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.290G>A	X.37:g.77528954C>T	ENSP00000362401:p.Arg97His						p.R97H	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	582	-			97					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.290G>A	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.228496	0.58777	.	.	ENSG00000173198	ENST00000373304	T	0.72942	-0.7	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.83953	2.67	0.48185	D	0.999603	D	0.89917	1.0	D	0.91635	0.999	D	0.86884	0.2044	10	0.72032	D	0.01	.	13.8027	0.63212	0.0:1.0:0.0:0.0	.	97	Q9Y271	CLTR1_HUMAN	H	97	ENSP00000362401:R97H	ENSP00000362401:R97H	R	-	2	0	CYSLTR1	77415610	1.000000	0.71417	0.997000	0.53966	0.299000	0.27559	7.602000	0.82796	1.823000	0.53134	0.452000	0.29995	CGC		0.443	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			16	73	0	0	0	1	0	16	73				
SPRY3	10251	broad.mit.edu	37	X	155004315	155004315	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:155004315G>A	ENST00000302805.2	+	2	1213	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	261	Cys-rich.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTGCCGCTGCAAGAGG	0.572																																						ENST00000302805.2																			0											c.(781-783)cGc>cAc		sprouty homolog 3 (Drosophila)							151.0	147.0	148.0					X																	155004315		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004315G>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.782G>A	X.37:g.155004315G>A	ENSP00000302978:p.Arg261His						p.R261H	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	1213	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		261			Cys-rich.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.782G>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711940	0.68730	.	.	ENSG00000168939	ENST00000302805	T	0.68479	-0.33	2.94	2.94	0.34122	.	0.000000	0.64402	D	0.000001	T	0.77890	0.4198	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.67304	-0.5704	9	0.59425	D	0.04	-16.0959	10.9825	0.47504	0.0:0.0:1.0:0.0	.	261	O43610	SPY3_HUMAN	H	261	ENSP00000302978:R261H	ENSP00000302978:R261H	R	+	2	0	SPRY3	154657509	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.117000	0.94347	1.494000	0.48533	0.279000	0.19357	CGC		0.572	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		23	315	0	0	0	1	0	23	315				
ASB13	79754	broad.mit.edu	37	10	5693260	5693260	+	Missense_Mutation	SNP	A	A	C	rs139712171		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5693260A>C	ENST00000357700.6	-	3	324	c.298T>G	c.(298-300)Tgt>Ggt	p.C100G	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	100					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		AGCTTCACACACTCGATGCTG	0.632																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(298-300)Tgt>Ggt		ankyrin repeat and SOCS box containing 13							59.0	51.0	54.0					10																	5693260		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5693260A>C	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.298T>G	10.37:g.5693260A>C	ENSP00000350331:p.Cys100Gly					ASB13_ENST00000479033.1_Intron	p.C100G	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	324	-			100					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.298T>G	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294450	0.81025	.	.	ENSG00000196372	ENST00000357700	T	0.65549	-0.16	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.83774	2.66	0.58432	D	0.999999	D;P	0.57257	0.979;0.814	P;P	0.51079	0.658;0.625	T	0.78981	-0.1989	10	0.87932	D	0	-6.6247	13.6562	0.62339	1.0:0.0:0.0:0.0	.	100;100	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	G	100	ENSP00000350331:C100G	ENSP00000350331:C100G	C	-	1	0	ASB13	5733266	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.751000	0.91628	1.716000	0.51395	0.459000	0.35465	TGT		0.632	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			20	74	0	0	0	1	0	20	74				
BAIAP3	8938	broad.mit.edu	37	16	1395342	1395342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:1395342G>A	ENST00000324385.5	+	22	2296	c.2138G>A	c.(2137-2139)tGg>tAg	p.W713*	BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	713	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGGCCAAGTGGAGGCTTCAG	0.682																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2137-2139)tGg>tAg		BAI1-associated protein 3							50.0	43.0	46.0					16																	1395342		2198	4300	6498	SO:0001587	stop_gained	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1395342G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2138G>A	16.37:g.1395342G>A	ENSP00000324510:p.Trp713*					BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	p.W713*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			22	2296	+		Hepatocellular(780;0.0893)	713			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	ENST00000324385.5	37	c.2138G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242447	0.95272	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.7	0.559	0.17272	.	0.944188	0.08982	N	0.865598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.2147	1.7974	0.03064	0.1155:0.2499:0.4009:0.2336	.	.	.	.	X	678;695;713;695;642	.	ENSP00000324510:W713X	W	+	2	0	BAIAP3	1335343	0.571000	0.26659	0.912000	0.35992	0.308000	0.27856	1.110000	0.31147	0.763000	0.33175	0.436000	0.28706	TGG		0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			5	81	0	0	0	1	0	5	81				
UBR4	23352	broad.mit.edu	37	1	19523634	19523634	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:19523634C>T	ENST00000375254.3	-	8	1046		c.e8+1		UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAACTTCTCACCTGCATACAG	0.428																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.e8+1		ubiquitin protein ligase E3 component n-recognin 4							131.0	119.0	123.0					1																	19523634		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19523634C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1018+1G>A	1.37:g.19523634C>T						UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site				Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	8	1022	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)						A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37		CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540105	0.85917	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9374	0.92590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR4	19396221	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.440000	0.80464	2.820000	0.97059	0.650000	0.86243	.		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron	20	83	0	0	0	1	0	20	83				
RIMKLA	284716	broad.mit.edu	37	1	42880615	42880615	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:42880615C>T	ENST00000431473.3	+	5	1275	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	382					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACATTAACAACAGGATTGCTT	0.458																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1144-1146)aaC>aaT		ribosomal modification protein rimK-like family member A							64.0	74.0	71.0					1																	42880615		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880615C>T	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1146C>T	1.37:g.42880615C>T							p.N382N	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1275	+			382					Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.1146C>T	CCDS466.2																																																																																				0.458	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		12	133	0	0	0	1	0	12	133				
SLC6A13	6540	broad.mit.edu	37	12	330125	330125	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:330125A>T	ENST00000343164.4	-	15	1850	c.1798T>A	c.(1798-1800)Tct>Act	p.S600T	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	600					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TAGCAGTGAGACTCTAGCTCT	0.662																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1798-1800)Tct>Act		solute carrier family 6 (neurotransmitter transporter), member 13							63.0	55.0	58.0					12																	330125		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330125A>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1798T>A	12.37:g.330125A>T	ENSP00000339260:p.Ser600Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	p.S600T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1850	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		600					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1798T>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	1.387	-0.581913	0.03827	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73897	-0.75;-0.79	4.15	1.76	0.24704	.	1.605550	0.03670	U	0.243790	T	0.45637	0.1352	N	0.02916	-0.46	0.35997	D	0.837137	P;B;B	0.36465	0.554;0.002;0.001	B;B;B	0.32393	0.145;0.003;0.001	T	0.55541	-0.8125	10	0.02654	T	1	.	7.144	0.25573	0.8175:0.0:0.1825:0.0	.	508;579;600	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	508;579;600	ENSP00000407104:S508T;ENSP00000339260:S600T	ENSP00000318097:S579T	S	-	1	0	SLC6A13	200386	1.000000	0.71417	0.586000	0.28679	0.440000	0.31957	2.966000	0.49208	0.194000	0.20326	0.368000	0.22195	TCT		0.662	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		6	48	0	0	0	1	0	6	48				
SLC25A43	203427	broad.mit.edu	37	X	118540573	118540573	+	Silent	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:118540573A>T	ENST00000217909.7	+	2	770	c.426A>T	c.(424-426)ccA>ccT	p.P142P	SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	142					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TACTGGAACCATCGTACAGGG	0.488																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(424-426)ccA>ccT		solute carrier family 25, member 43							116.0	102.0	107.0					X																	118540573		2203	4300	6503	SO:0001819	synonymous_variant	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118540573A>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.426A>T	X.37:g.118540573A>T						SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	p.P142P	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			2	770	+			142					O75854|Q8N9L5	Silent	SNP	ENST00000217909.7	37	c.426A>T	CCDS14577.1																																																																																				0.488	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		22	204	0	0	0	1	0	22	204				
PLCH2	9651	broad.mit.edu	37	1	2436221	2436221	+	Missense_Mutation	SNP	C	C	T	rs375251663		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2436221C>T	ENST00000419816.2	+	22	4094	c.3820C>T	c.(3820-3822)Cgc>Tgc	p.R1274C	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1274C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1274					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCGGCTCCCGCAGACTGAG	0.687																																						ENST00000419816.2																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(3820-3822)Cgc>Tgc		phospholipase C, eta 2		C	CYS/ARG	0,4086		0,0,2043	18.0	22.0	21.0		3820	-1.7	0.0	1		21	1,8279		0,1,4139	no	missense	PLCH2	NM_014638.2	180	0,1,6182	TT,TC,CC		0.0121,0.0,0.0081	probably-damaging	1274/1417	2436221	1,12365	2043	4140	6183	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2436221C>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3820C>T	1.37:g.2436221C>T	ENSP00000389803:p.Arg1274Cys					PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1274C	p.R1274C			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	4094	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1274					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3820C>T		.	.	.	.	.	.	.	.	.	.	C	10.98	1.505266	0.26949	0.0	1.21E-4	ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878	T;T	0.27557	1.78;1.66	2.62	-1.68	0.08212	.	5.923810	0.00496	N	0.000141	T	0.28599	0.0708	L	0.39898	1.24	0.22933	N	0.998546	D;D	0.60575	0.988;0.988	P;P	0.44477	0.451;0.451	T	0.38067	-0.9678	10	0.72032	D	0.01	.	6.4369	0.21829	0.4461:0.4141:0.1399:0.0	.	1026;1274	B9DI82;O75038	.;PLCH2_HUMAN	C	1274;1238;1026	ENSP00000367747:R1274C;ENSP00000367749:R1238C	ENSP00000278878:R1026C	R	+	1	0	PLCH2	2426081	0.143000	0.22626	0.008000	0.14137	0.085000	0.17905	0.067000	0.14510	-0.102000	0.12197	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		13	22	0	0	0	1	0	13	22				
PANK4	55229	broad.mit.edu	37	1	2452693	2452693	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2452693C>T	ENST00000378466.3	-	3	281	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Missense_Mutation_p.R90Q	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	90					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAAGTGCAGTCGAGCAGTGAT	0.502																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(268-270)cGa>cAa		pantothenate kinase 4							163.0	164.0	164.0					1																	2452693		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452693C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.269G>A	1.37:g.2452693C>T	ENSP00000367727:p.Arg90Gln					PANK4_ENST00000435556.3_Missense_Mutation_p.R90Q	p.R90Q	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	281	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	90					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.269G>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269648	0.80469	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99586	-6.23;-4.16	4.74	4.74	0.60224	.	0.140688	0.48767	D	0.000180	D	0.99576	0.9847	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.98001	1.0360	10	0.72032	D	0.01	-25.5754	16.6921	0.85324	0.0:1.0:0.0:0.0	.	90;90	E9PHT6;Q9NVE7	.;PANK4_HUMAN	Q	90	ENSP00000367727:R90Q;ENSP00000421433:R90Q	ENSP00000367727:R90Q	R	-	2	0	PANK4	2442553	1.000000	0.71417	0.101000	0.21167	0.460000	0.32559	7.132000	0.77251	2.177000	0.69029	0.462000	0.41574	CGA		0.502	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			4	165	0	0	0	1	0	4	165				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	37	0	0	0	1	0	3	37				
POLR2A	5430	broad.mit.edu	37	17	7406572	7406572	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:7406572G>A	ENST00000322644.6	+	17	3288	c.2889G>A	c.(2887-2889)cgG>cgA	p.R963R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	963					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAGGATCGGGAGGTGCTCA	0.602																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2887-2889)cgG>cgA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							134.0	129.0	131.0					17																	7406572		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406572G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2889G>A	17.37:g.7406572G>A							p.R963R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3288	+		Prostate(122;0.173)	963					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.2889G>A	CCDS32548.1																																																																																				0.602	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	125	0	0	0	1	0	6	125				
RPL5	6125	broad.mit.edu	37	1	93301832	93301832	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:93301832G>A	ENST00000370321.3	+	5	500	c.410G>A	c.(409-411)gGt>gAt	p.G137D	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	137					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGCATTGATGGTCAGCCAGGT	0.483																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(409-411)gGt>gAt		ribosomal protein L5							113.0	114.0	114.0					1																	93301832		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301832G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.410G>A	1.37:g.93301832G>A	ENSP00000359345:p.Gly137Asp						p.G137D	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	500	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	137					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.410G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	6.337	0.430294	0.12045	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	D	0.82526	-1.62	4.63	3.72	0.42706	.	0.050954	0.85682	D	0.000000	T	0.54481	0.1861	N	0.16743	0.435	0.80722	D	1	B	0.22346	0.068	B	0.24848	0.056	T	0.50224	-0.8853	10	0.18276	T	0.48	.	12.9191	0.58222	0.0797:0.0:0.9203:0.0	.	137	P46777	RL5_HUMAN	D	87;137;87	ENSP00000359345:G137D	ENSP00000359338:G87D	G	+	2	0	RPL5	93074420	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	6.617000	0.74210	0.933000	0.37291	-0.460000	0.05396	GGT		0.483	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	139	0	0	0	1	0	5	139				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	96	0	0	0	1	0	5	96				
HRH1	3269	broad.mit.edu	37	3	11301252	11301252	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:11301252G>A	ENST00000397056.1	+	3	720	c.529G>A	c.(529-531)Gag>Aag	p.E177K	HRH1_ENST00000438284.2_Missense_Mutation_p.E177K|HRH1_ENST00000431010.2_Missense_Mutation_p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGTGCGCCGAGAGGACAAGTG	0.522																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(529-531)Gag>Aag		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						174.0	147.0	156.0					3																	11301252		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301252G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.529G>A	3.37:g.11301252G>A	ENSP00000380247:p.Glu177Lys					HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K	p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	720	+			177					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.529G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991579	0.18966	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.37235	1.21;1.21;1.21	5.98	-1.23	0.09465	GPCR, rhodopsin-like superfamily (1);	0.466272	0.24467	N	0.038270	T	0.26557	0.0649	L	0.56199	1.76	0.09310	N	0.999991	B	0.15719	0.014	B	0.23419	0.046	T	0.27905	-1.0060	10	0.19147	T	0.46	-3.7866	6.296	0.21087	0.299:0.2096:0.4914:0.0	.	177	P35367	HRH1_HUMAN	K	177	ENSP00000406705:E177K;ENSP00000397028:E177K;ENSP00000380247:E177K	ENSP00000380247:E177K	E	+	1	0	HRH1	11276252	0.028000	0.19301	0.000000	0.03702	0.414000	0.31173	1.371000	0.34250	-0.584000	0.05913	-0.176000	0.13171	GAG		0.522	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			10	240	0	0	0	1	0	10	240				
CYLC2	1539	broad.mit.edu	37	9	105767734	105767734	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:105767734A>T	ENST00000374798.3	+	5	891	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	274	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAAAGATAAGAAGAAGCCC	0.393																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(820-822)aAg>aTg		cylicin, basic protein of sperm head cytoskeleton 2							102.0	98.0	100.0					9																	105767734		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767734A>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.821A>T	9.37:g.105767734A>T	ENSP00000420256:p.Lys274Met					CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			5	891	+		all_hematologic(171;0.125)	274			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.821A>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644146	0.29246	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16597	2.33;2.33	4.5	0.625	0.17665	.	1.660540	0.03869	N	0.275258	T	0.23766	0.0575	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.40496	-0.9560	10	0.62326	D	0.03	-2.6262	10.3899	0.44162	0.4947:0.5053:0.0:0.0	.	274	Q14093	CYLC2_HUMAN	M	274	ENSP00000420256:K274M;ENSP00000417674:K274M	ENSP00000420256:K274M	K	+	2	0	CYLC2	104807555	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.265000	0.08644	0.024000	0.15214	0.467000	0.42956	AAG		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		72	99	0	0	0	1	0	72	99				
TMEM201	199953	broad.mit.edu	37	1	9661304	9661304	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:9661304C>T	ENST00000340381.6	+	5	757	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TMEM201_ENST00000340305.5_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCTGGCCCTGCCACCTGG	0.697																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(748-750)Ctg>Ttg		transmembrane protein 201							45.0	47.0	47.0					1																	9661304		2203	4298	6501	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661304C>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.748C>T	1.37:g.9661304C>T						TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	757	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	250					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.748C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145426	0.21288	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.0	0.46444	.	.	.	.	.	T	0.59649	0.2209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56013	-0.8049	4	.	.	.	-15.5829	9.6369	0.39814	0.0:0.8934:0.0:0.1066	.	.	.	.	L	159	.	.	P	+	2	0	TMEM201	9583891	0.990000	0.36364	0.998000	0.56505	0.924000	0.55760	0.753000	0.26376	0.966000	0.38159	0.563000	0.77884	CCT		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		12	26	0	0	0	1	0	12	26				
SLITRK4	139065	broad.mit.edu	37	X	142716492	142716492	+	Silent	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:142716492A>G	ENST00000381779.4	-	2	2658	c.2433T>C	c.(2431-2433)taT>taC	p.Y811Y	SLITRK4_ENST00000338017.4_Silent_p.Y811Y|SLITRK4_ENST00000356928.1_Silent_p.Y811Y	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	811						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTCAAAATACTCACTCT	0.413																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2431-2433)taT>taC		SLIT and NTRK-like family, member 4							145.0	124.0	131.0					X																	142716492		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716492A>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2433T>C	X.37:g.142716492A>G						SLITRK4_ENST00000338017.4_Silent_p.Y811Y|SLITRK4_ENST00000356928.1_Silent_p.Y811Y	p.Y811Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2658	-	Acute lymphoblastic leukemia(192;6.56e-05)		811					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2433T>C	CCDS14679.1																																																																																				0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		5	242	0	0	0	1	0	5	242				
SEC14L1	6397	broad.mit.edu	37	17	75205560	75205560	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:75205560T>C	ENST00000413679.2	+	14	1914		c.e14+2		SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site|SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCACATGAGGTACGTCCTCCG	0.612																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.e14+2		SEC14-like 1 (S. cerevisiae)							67.0	56.0	60.0					17																	75205560		2203	4300	6503	SO:0001630	splice_region_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205560T>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1611+2T>C	17.37:g.75205560T>C						SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site|SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site		NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1914	+								A8K4E8|B4DDI5|D5G3K1|Q99780	Splice_Site	SNP	ENST00000413679.2	37		CCDS11752.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172190	0.38315	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	.	.	.	5.48	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7996	0.52120	0.0:0.0:0.1472:0.8528	.	.	.	.	.	-1	.	.	.	+	.	.	SEC14L1	72717155	1.000000	0.71417	0.851000	0.33527	0.252000	0.25951	5.847000	0.69451	0.872000	0.35775	0.533000	0.62120	.		0.612	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	Intron	10	36	0	0	0	1	0	10	36				
LMBRD2	92255	broad.mit.edu	37	5	36124351	36124351	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:36124351T>A	ENST00000296603.4	-	7	1226	c.764A>T	c.(763-765)aAt>aTt	p.N255I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	255						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGCTTTCATTCACTTTACG	0.274																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(763-765)aAt>aTt		LMBR1 domain containing 2							54.0	52.0	53.0					5																	36124351		2193	4280	6473	SO:0001583	missense	92255					integral to membrane		g.chr5:36124351T>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.764A>T	5.37:g.36124351T>A	ENSP00000296603:p.Asn255Ile						p.N255I	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1226	-	all_lung(31;0.000146)		255					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.764A>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084616	0.36758	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.31510	1.49	5.61	4.45	0.53987	LMBR1-like membrane protein (1);	0.142728	0.64402	D	0.000005	T	0.25791	0.0628	L	0.44542	1.39	0.47094	D	0.999318	B	0.06786	0.001	B	0.09377	0.004	T	0.04579	-1.0941	10	0.56958	D	0.05	-19.0217	9.2153	0.37344	0.0:0.1588:0.0:0.8412	.	255	Q68DH5	LMBD2_HUMAN	I	255;149	ENSP00000296603:N255I	ENSP00000296603:N255I	N	-	2	0	LMBRD2	36160108	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.843000	0.48238	0.960000	0.38005	0.477000	0.44152	AAT		0.274	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		36	56	0	0	0	1	0	36	56				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77228080	77228080	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:77228080A>C	ENST00000237642.6	+	1	902	c.158A>C	c.(157-159)cAt>cCt	p.H53P	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		CCGGGAGGCCATCAGAGTGGC	0.667											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000237642.6																			0											c.(157-159)cAt>cCt									23.0	33.0	29.0					4																	77228080		2202	4299	6501	SO:0001583	missense	0							g.chr4:77228080A>C		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.158A>C	4.37:g.77228080A>C	ENSP00000237642:p.His53Pro		OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1174	FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron	p.H53P	NM_003943.4	NP_003934.1					1	902	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.158A>C	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.750975	0.15778	.	.	ENSG00000118804	ENST00000237642	T	0.21543	2.0	4.75	-0.496	0.12027	.	0.788733	0.10386	N	0.681006	T	0.09158	0.0226	N	0.08118	0	0.09310	N	0.999996	B	0.16603	0.018	B	0.17433	0.018	T	0.31724	-0.9933	10	0.41790	T	0.15	-2.5351	4.1686	0.10318	0.4913:0.1812:0.3275:0.0	.	53	O95210	STBD1_HUMAN	P	53	ENSP00000237642:H53P	ENSP00000237642:H53P	H	+	2	0	STBD1	77447104	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.385000	0.20685	0.026000	0.15269	0.383000	0.25322	CAT		0.667	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			4	19	0	0	0	1	0	4	19				
ZGRF1	55345	broad.mit.edu	37	4	113539732	113539732	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:113539732G>T	ENST00000505019.1	-	6	1591	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y|C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		489						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATTACTAGATTCAATTTG	0.333																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1465-1467)tCt>tAt		chromosome 4 open reading frame 21							84.0	90.0	88.0					4																	113539732		2202	4299	6501	SO:0001583	missense	55345							g.chr4:113539732G>T																												ENST00000505019.1:c.1466C>A	4.37:g.113539732G>T	ENSP00000424737:p.Ser489Tyr					C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y|C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y	p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1591	-		Ovarian(17;0.156)	489					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1466C>A		.	.	.	.	.	.	.	.	.	.	G	9.967	1.224360	0.22457	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84730	-1.89;1.63;1.19	5.42	4.57	0.56435	.	0.785958	0.11407	N	0.567231	D	0.86752	0.6008	M	0.64997	1.995	0.09310	N	1	B;B	0.31054	0.306;0.215	B;B	0.40228	0.311;0.323	T	0.74685	-0.3582	10	0.29301	T	0.29	-6.1645	15.3876	0.74714	0.0763:0.0:0.9237:0.0	.	489;489	Q86YA3;G5EA02	CD021_HUMAN;.	Y	489;489;458	ENSP00000424737:S489Y;ENSP00000309095:S489Y;ENSP00000390505:S458Y	ENSP00000309095:S489Y	S	-	2	0	C4orf21	113759181	0.031000	0.19500	0.011000	0.14972	0.009000	0.06853	1.380000	0.34351	0.784000	0.33661	-1.151000	0.01829	TCT		0.333	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			44	183	1	0	5.78141e-17	1	6.03648e-17	44	183				
CYTH4	27128	broad.mit.edu	37	22	37708164	37708164	+	Missense_Mutation	SNP	G	G	A	rs369905837		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:37708164G>A	ENST00000248901.6	+	12	1248	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	354	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAATCGTACCGCATCTCAGCC	0.622																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(1060-1062)cGc>cAc		cytohesin 4		G	HIS/ARG	0,4406		0,0,2203	136.0	119.0	125.0		1061	3.7	1.0	22		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTH4	NM_013385.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	354/395	37708164	1,13005	2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37708164G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1061G>A	22.37:g.37708164G>A	ENSP00000248901:p.Arg354His						p.R354H	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			12	1248	+			354			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.1061G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534140	0.27475	0.0	1.16E-4	ENSG00000100055	ENST00000248901	T	0.16324	2.35	4.71	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361979	0.27645	N	0.018445	T	0.11452	0.0279	L	0.35644	1.08	0.80722	D	1	P	0.44690	0.841	B	0.37451	0.25	T	0.04678	-1.0934	10	0.31617	T	0.26	.	8.7161	0.34411	0.1695:0.0:0.8305:0.0	.	354	Q9UIA0	CYH4_HUMAN	H	354	ENSP00000248901:R354H	ENSP00000248901:R354H	R	+	2	0	CYTH4	36038110	0.000000	0.05858	0.953000	0.39169	0.044000	0.14063	0.002000	0.13061	2.339000	0.79563	0.561000	0.74099	CGC		0.622	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			50	61	0	0	0	1	0	50	61				
MTPAP	55149	broad.mit.edu	37	10	30602556	30602556	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:30602556T>C	ENST00000263063.4	-	9	1774	c.1731A>G	c.(1729-1731)acA>acG	p.T577T	MTPAP_ENST00000358107.4_Silent_p.T707T|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	577					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAGTACTAATTGTTCTCTTCC	0.348																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2119-2121)acA>acG		mitochondrial poly(A) polymerase							152.0	152.0	152.0					10																	30602556		2203	4300	6503	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602556T>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1731A>G	10.37:g.30602556T>C						MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.T577T	p.T707T			Q9NVV4	PAPD1_HUMAN			10	2120	-			577					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.2121A>G	CCDS7165.1																																																																																				0.348	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		6	406	0	0	0	1	0	6	406				
MSLNL	401827	broad.mit.edu	37	16	830602	830602	+	Intron	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:830602C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.A133A			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTGCAGGCACGCATGTGTAG	0.557																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(397-399)gcG>gcA		mesothelin-like							305.0	261.0	276.0					16																	830602		2181	4268	6449	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830602C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-440G>A	16.37:g.830602C>T						MSLNL_ENST00000442466.1_Intron	p.A133A			Q96KJ4	MSLNL_HUMAN			3	398	-			0						Silent	SNP	ENST00000442466.1	37	c.399G>A																																																																																					0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		7	466	0	0	0	1	0	7	466				
CACNA2D1	781	broad.mit.edu	37	7	81598290	81598290	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:81598290C>G	ENST00000356253.5	-	29	2600		c.e29-1		CACNA2D1_ENST00000356860.3_Splice_Site|CACNA2D1_ENST00000535308.1_Intron			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTCCACTTTCtaaaaaaaaa	0.284																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e29-1		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						54.0	58.0	56.0					7																	81598290		2199	4292	6491	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81598290C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2345-1G>C	7.37:g.81598290C>G						CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000535308.1_Intron		NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			29	2647	-								Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP	ENST00000356253.5	37			.	.	.	.	.	.	.	.	.	.	C	15.55	2.865720	0.51588	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9785	0.86321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81436226	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.800000	0.38833	2.518000	0.84900	0.484000	0.47621	.		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Intron	5	214	0	0	0	1	0	5	214				
CEP152	22995	broad.mit.edu	37	15	49097830	49097830	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:49097830C>T	ENST00000380950.2	-	2	204	c.17G>A	c.(16-18)gGc>gAc	p.G6D	CEP152_ENST00000325747.5_Missense_Mutation_p.G6D|CEP152_ENST00000399334.3_Missense_Mutation_p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	6					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCCACACTGCCAAAGTCTAA	0.398																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(16-18)gGc>gAc		centrosomal protein 152kDa							136.0	126.0	129.0					15																	49097830		1849	4100	5949	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49097830C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.17G>A	15.37:g.49097830C>T	ENSP00000370337:p.Gly6Asp					CEP152_ENST00000399334.3_Missense_Mutation_p.G6D|CEP152_ENST00000325747.5_Missense_Mutation_p.G6D	p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	2	204	-		all_lung(180;0.0428)	6					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.17G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756997	0.31137	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.40476	1.18;1.03;1.23	5.02	5.02	0.67125	.	0.054399	0.64402	D	0.000001	T	0.22205	0.0535	L	0.29908	0.895	0.28402	N	0.918582	B;P;P	0.40619	0.233;0.724;0.724	B;B;B	0.36845	0.038;0.234;0.234	T	0.21861	-1.0233	10	0.05833	T	0.94	-11.8808	5.9752	0.19375	0.0:0.778:0.0:0.222	.	6;6;6	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	6	ENSP00000370337:G6D;ENSP00000321000:G6D;ENSP00000382271:G6D	ENSP00000321000:G6D	G	-	2	0	CEP152	46885122	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.068000	0.57534	2.606000	0.88127	0.591000	0.81541	GGC		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		7	144	0	0	0	1	0	7	144				
ANK3	288	broad.mit.edu	37	10	61835771	61835771	+	Missense_Mutation	SNP	C	C	T	rs143606308		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61835771C>T	ENST00000280772.2	-	37	5059	c.4868G>A	c.(4867-4869)cGa>cAa	p.R1623Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1623	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAGAGGTTCGAGAGGAAAA	0.478																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4867-4869)cGa>cAa		ankyrin 3, node of Ranvier (ankyrin G)		C	,,,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	65.0	68.0	67.0		,,,4868	6.0	1.0	10	dbSNP_134	67	0,8600		0,0,4300	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,possibly-damaging	,,,1623/4378	61835771	2,13004	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835771C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4868G>A	10.37:g.61835771C>T	ENSP00000280772:p.Arg1623Gln					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R1623Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5059	-			1623			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4868G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496866	0.85069	4.54E-4	0.0	ENSG00000151150	ENST00000280772	T	0.74002	-0.8	5.98	5.98	0.97165	.	0.000000	0.34906	N	0.003599	D	0.85682	0.5753	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85283	0.1063	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1623	Q12955	ANK3_HUMAN	Q	1623	ENSP00000280772:R1623Q	ENSP00000280772:R1623Q	R	-	2	0	ANK3	61505777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.847000	0.97988	0.591000	0.81541	CGA		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		89	111	0	0	0	1	0	89	111				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	87	0	0	0	1	0	5	87				
C1orf115	79762	broad.mit.edu	37	1	220870064	220870064	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:220870064C>T	ENST00000294889.5	+	2	978	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	140						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGGTATCCTTCGTGCGCTAAT	0.592																																						ENST00000294889.5																			0				large_intestine(1)|lung(1)	2						c.(418-420)ttC>ttT		chromosome 1 open reading frame 115							68.0	68.0	68.0					1																	220870064		2203	4300	6503	SO:0001819	synonymous_variant	79762					integral to membrane		g.chr1:220870064C>T	AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.420C>T	1.37:g.220870064C>T							p.F140F	NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN		GBM - Glioblastoma multiforme(131;0.0273)	2	978	+			140					B3KRN3|D3DTB2	Silent	SNP	ENST00000294889.5	37	c.420C>T	CCDS1524.1																																																																																				0.592	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090922.3	NM_024709		16	156	0	0	0	1	0	16	156				
SIM1	6492	broad.mit.edu	37	6	100868816	100868816	+	Silent	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:100868816C>A	ENST00000369208.3	-	10	1799	c.1017G>T	c.(1015-1017)ggG>ggT	p.G339G	SIM1_ENST00000262901.4_Silent_p.G339G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	339	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAGCTGCAGCCCTTTGTATT	0.502																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1015-1017)ggG>ggT		single-minded family bHLH transcription factor 1							88.0	80.0	83.0					6																	100868816		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868816C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1017G>T	6.37:g.100868816C>A						SIM1_ENST00000262901.4_Silent_p.G339G	p.G339G			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1799	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	339			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1017G>T	CCDS5045.1																																																																																				0.502	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		3	50	1	0	6.4e-05	1	6.44539e-05	3	50				
PLS3	5358	broad.mit.edu	37	X	114880830	114880830	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:114880830G>C	ENST00000420625.2	+	13	1620	c.1486G>C	c.(1486-1488)Gct>Cct	p.A496P	PLS3_ENST00000289290.3_Missense_Mutation_p.A460P|PLS3_ENST00000537301.1_Missense_Mutation_p.A483P|PLS3_ENST00000355899.3_Missense_Mutation_p.A496P|PLS3_ENST00000539310.1_Missense_Mutation_p.A451P|PLS3_ENST00000543070.1_Missense_Mutation_p.A90P	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	496	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCTGACTTTAGCTTTAGTCTG	0.413																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(1486-1488)Gct>Cct		plastin 3							162.0	135.0	144.0					X																	114880830		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114880830G>C	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1486G>C	X.37:g.114880830G>C	ENSP00000398945:p.Ala496Pro					PLS3_ENST00000355899.3_Missense_Mutation_p.A496P|PLS3_ENST00000289290.3_Missense_Mutation_p.A460P|PLS3_ENST00000543070.1_Missense_Mutation_p.A90P|PLS3_ENST00000539310.1_Missense_Mutation_p.A451P|PLS3_ENST00000537301.1_Missense_Mutation_p.A483P	p.A496P	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			13	1620	+			496			Actin-binding 2.|CH 3.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.1486G>C	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061019	0.93846	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.33	5.33	0.75918	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.047969	0.85682	D	0.000000	D	0.98362	0.9456	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.969;0.999	D;D;P;D	0.79784	0.993;0.988;0.698;0.988	D	0.99731	1.1012	10	0.87932	D	0	-13.2141	16.5563	0.84486	0.0:0.0:1.0:0.0	.	469;483;460;496	B4DPW9;B4DGB4;F8W8D8;P13797	.;.;.;PLST_HUMAN	P	496;483;460;496;451;90	ENSP00000348163:A496P;ENSP00000445105:A483P;ENSP00000289290:A460P;ENSP00000398945:A496P;ENSP00000445339:A451P;ENSP00000439260:A90P	ENSP00000289290:A460P	A	+	1	0	PLS3	114787086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.216000	0.71823	0.506000	0.49869	GCT		0.413	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			4	260	0	0	0	1	0	4	260				
PABPC1L	80336	broad.mit.edu	37	20	43561000	43561000	+	Silent	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:43561000A>G	ENST00000217073.2	+	9	1257	c.1257A>G	c.(1255-1257)gcA>gcG	p.A419A	PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000255136.3_Silent_p.A419A|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	419	Pro-rich.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGGCTGCATACTATGGCT	0.622																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1255-1257)gcA>gcG		poly(A) binding protein, cytoplasmic 1-like							51.0	55.0	54.0					20																	43561000		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43561000A>G	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1257A>G	20.37:g.43561000A>G						PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000217073.2_Silent_p.A419A|PABPC1L_ENST00000537323.1_Intron	p.A419A	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			9	1339	+			419			Pro-rich.		Q4VY17	Silent	SNP	ENST00000217073.2	37	c.1257A>G	CCDS42878.1																																																																																				0.622	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			21	99	0	0	0	1	0	21	99				
PNMA5	114824	broad.mit.edu	37	X	152159711	152159711	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:152159711G>A	ENST00000439251.1	-	2	870	c.432C>T	c.(430-432)tcC>tcT	p.S144S	PNMA5_ENST00000361887.5_Silent_p.S144S|PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000535214.1_Silent_p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAAGGTGGGGATCTAACTT	0.537																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(430-432)tcC>tcT		paraneoplastic Ma antigen family member 5							146.0	148.0	147.0					X																	152159711		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159711G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.432C>T	X.37:g.152159711G>A						PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000361887.5_Silent_p.S144S|PNMA5_ENST00000535214.1_Silent_p.S144S	p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	870	-	Acute lymphoblastic leukemia(192;6.56e-05)		144					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.432C>T	CCDS14718.1																																																																																				0.537	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		33	385	0	0	0	1	0	33	385				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77228079	77228079	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:77228079C>T	ENST00000237642.6	+	1	901	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		TCCGGGAGGCCATCAGAGTGG	0.667											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000237642.6																			0											c.(157-159)Cat>Tat									24.0	33.0	30.0					4																	77228079		2202	4299	6501	SO:0001583	missense	0							g.chr4:77228079C>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.157C>T	4.37:g.77228079C>T	ENSP00000237642:p.His53Tyr		OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1174	FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron	p.H53Y	NM_003943.4	NP_003934.1					1	901	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.157C>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782560	0.16189	.	.	ENSG00000118804	ENST00000237642	T	0.21734	1.99	4.75	-0.398	0.12418	.	0.788733	0.10386	N	0.681006	T	0.10637	0.0260	N	0.08118	0	0.09310	N	0.999996	B	0.25272	0.122	B	0.22601	0.04	T	0.30679	-0.9970	10	0.48119	T	0.1	-2.5351	9.8625	0.41123	0.086:0.5329:0.381:0.0	.	53	O95210	STBD1_HUMAN	Y	53	ENSP00000237642:H53Y	ENSP00000237642:H53Y	H	+	1	0	STBD1	77447103	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.263000	0.18478	-0.053000	0.13289	-0.463000	0.05309	CAT		0.667	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			4	19	0	0	0	1	0	4	19				
SLC17A8	246213	broad.mit.edu	37	12	100813689	100813689	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:100813689G>A	ENST00000323346.5	+	12	1835	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	508					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGAAACAGGAGTGGGCTGA	0.483																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1522-1524)Gag>Aag		solute carrier family 17 (vesicular glutamate transporter), member 8							68.0	75.0	72.0					12																	100813689		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100813689G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1522G>A	12.37:g.100813689G>A	ENSP00000316909:p.Glu508Lys					SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K|SLC17A8_ENST00000552697.1_3'UTR	p.E508K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			12	1835	+			508					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1522G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852472	0.71719	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69040	0.01;-0.37	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.306097	0.35067	N	0.003463	T	0.50548	0.1622	N	0.10809	0.05	0.48185	D	0.999604	B;P	0.35033	0.0;0.481	B;B	0.32465	0.002;0.146	T	0.56625	-0.7948	10	0.51188	T	0.08	.	19.0814	0.93185	0.0:0.0:1.0:0.0	.	508;458	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	508;458	ENSP00000316909:E508K;ENSP00000376715:E458K	ENSP00000316909:E508K	E	+	1	0	SLC17A8	99337820	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.735000	0.62051	2.579000	0.87056	0.591000	0.81541	GAG		0.483	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		4	107	0	0	0	1	0	4	107				
EXPH5	23086	broad.mit.edu	37	11	108384958	108384958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:108384958G>A	ENST00000265843.4	-	6	1386	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C|EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	426					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.R426C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAACTAACACGTTGGTAAACA	0.413																																						ENST00000265843.4																			1	Substitution - Missense(1)	p.R426C(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1276-1278)Cgt>Tgt		exophilin 5							147.0	147.0	147.0					11																	108384958		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384958G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1276C>T	11.37:g.108384958G>A	ENSP00000265843:p.Arg426Cys					EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C	p.R426C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1386	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	426					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1276C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220915	0.22457	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04360	4.22;4.15;4.0;4.22;4.07;3.64	5.66	2.12	0.27331	.	0.642064	0.15822	N	0.242924	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	D	0.61697	0.99	P	0.47744	0.556	T	0.38607	-0.9653	10	0.62326	D	0.03	-0.7619	5.0948	0.14727	0.0:0.1639:0.1628:0.6733	.	426	Q8NEV8	EXPH5_HUMAN	C	426;350;238;419;270;350;238	ENSP00000265843:R426C;ENSP00000391966:R350C;ENSP00000411390:R238C;ENSP00000432546:R419C;ENSP00000432683:R350C;ENSP00000446434:R238C	ENSP00000265843:R426C	R	-	1	0	EXPH5	107890168	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.132000	0.15891	0.116000	0.18110	-0.479000	0.04858	CGT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		8	377	0	0	0	1	0	8	377				
SULT1A2	6799	broad.mit.edu	37	16	28606983	28606983	+	Silent	SNP	C	C	T	rs559578354	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:28606983C>T	ENST00000395630.1	-	3	512	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SULT1A2_ENST00000533150.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	54					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAATCTGGCTCACCCAGGTGG	0.607													.|||	2	0.000399361	0.0	0.0	5008	,	,		20366	0.0		0.0	False		,,,				2504	0.002					ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(160-162)gtG>gtA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							87.0	81.0	83.0					16																	28606983		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28606983C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.162G>A	16.37:g.28606983C>T						SULT1A2_ENST00000395630.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V	p.V54V			P50226	ST1A2_HUMAN			2	1278	-			54					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.162G>A	CCDS10636.1																																																																																				0.607	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		12	163	0	0	0	1	0	12	163				
ANK3	288	broad.mit.edu	37	10	61832503	61832503	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61832503T>C	ENST00000280772.2	-	37	8327	c.8136A>G	c.(8134-8136)caA>caG	p.Q2712Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2712					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGTTTAGATTGTTTGAGCT	0.453																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8134-8136)caA>caG		ankyrin 3, node of Ranvier (ankyrin G)							115.0	114.0	114.0					10																	61832503		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832503T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8136A>G	10.37:g.61832503T>C						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.Q2712Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8327	-			2712					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.8136A>G	CCDS7258.1																																																																																				0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	387	0	0	0	1	0	5	387				
IHH	3549	broad.mit.edu	37	2	219920186	219920186	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:219920186C>T	ENST00000295731.6	-	3	978	c.979G>A	c.(979-981)Ggg>Agg	p.G327R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	327					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGGCCCCGAGGGCCACG	0.672																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(979-981)Ggg>Agg		indian hedgehog							28.0	29.0	29.0					2																	219920186		2202	4300	6502	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920186C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.979G>A	2.37:g.219920186C>T	ENSP00000295731:p.Gly327Arg						p.G327R	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	978	-		Renal(207;0.0915)	327					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.979G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406525	0.62399	.	.	ENSG00000163501	ENST00000295731	D	0.99848	-7.14	5.16	5.16	0.70880	Hedgehog/intein hint domain, C-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96499	0.9370	10	0.87932	D	0	.	18.2593	0.90030	0.0:1.0:0.0:0.0	.	327	Q14623	IHH_HUMAN	R	327	ENSP00000295731:G327R	ENSP00000295731:G327R	G	-	1	0	IHH	219628430	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.750000	0.85110	2.381000	0.81170	0.561000	0.74099	GGG		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		4	42	0	0	0	1	0	4	42				
VDR	7421	broad.mit.edu	37	12	48272841	48272841	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:48272841T>C	ENST00000395324.2	-	3	324	c.56A>G	c.(55-57)aAc>aGc	p.N19S	VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000229022.3_Missense_Mutation_p.N19S			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	19					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGGGGCACGTTCCGGTCAAA	0.587																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(55-57)aAc>aGc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						107.0	89.0	95.0					12																	48272841		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48272841T>C	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.56A>G	12.37:g.48272841T>C	ENSP00000378734:p.Asn19Ser					VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000395324.2_Missense_Mutation_p.N19S|VDR_ENST00000535672.1_5'UTR	p.N19S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	4	337	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	19					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.56A>G	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.270137	0.40194	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.93763	-3.16;-3.16;-3.16;-3.15;-2.74;-3.28;-3.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.41027	1.25	0.80722	D	1	B;B	0.32467	0.017;0.372	B;B	0.33196	0.009;0.159	D	0.87671	0.2541	10	0.27082	T	0.32	.	14.5878	0.68339	0.0:0.0:0.0:1.0	.	19;69	P11473;G3V1V9	VDR_HUMAN;.	S	19;19;19;69;19;19;19	ENSP00000378734:N19S;ENSP00000229022:N19S;ENSP00000449573:N19S;ENSP00000447173:N69S;ENSP00000448659:N19S;ENSP00000449561:N19S;ENSP00000450105:N19S	ENSP00000229022:N19S	N	-	2	0	VDR	46559108	1.000000	0.71417	0.881000	0.34555	0.815000	0.46073	4.956000	0.63645	2.126000	0.65437	0.533000	0.62120	AAC		0.587	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			13	106	0	0	0	1	0	13	106				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			73	110	0	0	0	1	0	73	110				
FAM208B	54906	broad.mit.edu	37	10	5782302	5782302	+	Silent	SNP	G	G	A	rs374458929		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5782302G>A	ENST00000328090.5	+	13	2794	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	723																	ATCGACCACCGTCTGCCCGTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000328090.5																			0											c.(2167-2169)ccG>ccA		family with sequence similarity 208, member B		G		0,3868		0,0,1934	75.0	74.0	74.0		2169	1.3	0.0	10		74	4,8244		0,4,4120	no	coding-synonymous	FAM208B	NM_017782.4		0,4,6054	AA,AG,GG		0.0485,0.0,0.033		723/2431	5782302	4,12112	1934	4124	6058	SO:0001819	synonymous_variant	54906							g.chr10:5782302G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2169G>A	10.37:g.5782302G>A						RP11-336A10.2_ENST00000411512.2_RNA	p.P723P	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2794	+			723					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.2169G>A	CCDS41485.1																																																																																				0.498	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		12	202	0	0	0	1	0	12	202				
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114.0	119.0	117.0					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		8	240	0	0	0	1	0	8	240				
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66.0	65.0	65.0					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			68	6	0	0	0	1	0	68	6				
CORO1A	11151	broad.mit.edu	37	16	30199764	30199764	+	Missense_Mutation	SNP	G	G	A	rs61736366	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:30199764G>A	ENST00000219150.5	+	10	1453	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	383					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTGGGGGGTCGGGATGCTGGG	0.697																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(1147-1149)cGg>cAg		coronin, actin binding protein, 1A		G	GLN/ARG,GLN/ARG	2,4392		0,2,2195	42.0	46.0	45.0		1148,1148	-0.6	0.9	16	dbSNP_129	45	2,8596		0,2,4297	yes	missense,missense	CORO1A	NM_001193333.2,NM_007074.3	43,43	0,4,6492	AA,AG,GG		0.0233,0.0455,0.0308	benign,benign	383/462,383/462	30199764	4,12988	2197	4299	6496	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30199764G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1148G>A	16.37:g.30199764G>A	ENSP00000219150:p.Arg383Gln					CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	p.R383Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			10	1453	+			383					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.1148G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	8.864	0.947545	0.18356	4.55E-4	2.33E-4	ENSG00000102879	ENST00000219150	T	0.28454	1.61	4.96	-0.622	0.11560	Domain of unknown function DUF1900 (1);	0.296607	0.31747	N	0.007129	T	0.08447	0.0210	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21314	-1.0249	10	0.17369	T	0.5	-7.2806	8.1064	0.30887	0.624:0.0:0.376:0.0	.	383	P31146	COR1A_HUMAN	Q	383	ENSP00000219150:R383Q	ENSP00000219150:R383Q	R	+	2	0	CORO1A	30107265	1.000000	0.71417	0.910000	0.35882	0.993000	0.82548	3.135000	0.50546	0.041000	0.15688	-0.258000	0.10820	CGG		0.697	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		23	193	0	0	0	1	0	23	193				
THSD1	55901	broad.mit.edu	37	13	52972267	52972267	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:52972267T>C	ENST00000258613.4	-	3	299	c.121A>G	c.(121-123)Aca>Gca	p.T41A	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.T41A	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	41					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACATACACTGTGTCGTTGCTT	0.438																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(121-123)Aca>Gca		thrombospondin, type I, domain containing 1							134.0	112.0	120.0					13																	52972267		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52972267T>C	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.121A>G	13.37:g.52972267T>C	ENSP00000258613:p.Thr41Ala					THSD1_ENST00000258613.4_Missense_Mutation_p.T41A|THSD1_ENST00000544466.1_Intron	p.T41A	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	665	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	41					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.121A>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731795	0.30684	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.19250	2.16;2.32	5.87	3.38	0.38709	.	0.259066	0.39083	N	0.001464	T	0.24624	0.0597	M	0.72118	2.19	0.26454	N	0.975556	P;P	0.43314	0.802;0.803	B;B	0.42495	0.389;0.338	T	0.15407	-1.0438	10	0.66056	D	0.02	-9.6369	6.9071	0.24315	0.2632:0.0:0.1375:0.5993	.	41;41	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	A	41	ENSP00000340650:T41A;ENSP00000258613:T41A	ENSP00000258613:T41A	T	-	1	0	THSD1	51870268	0.998000	0.40836	0.003000	0.11579	0.033000	0.12548	3.047000	0.49854	0.448000	0.26722	-0.336000	0.08194	ACA		0.438	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			27	216	0	0	0	1	0	27	216				
KCNU1	157855	broad.mit.edu	37	8	36793054	36793054	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:36793054C>T	ENST00000399881.3	+	27	3103	c.3066C>T	c.(3064-3066)gcC>gcT	p.A1022A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1022					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCGGCCAGCCAATGAGTTCA	0.458																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3064-3066)gcC>gcT		potassium channel, subfamily U, member 1							117.0	114.0	115.0					8																	36793054		1934	4159	6093	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793054C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3066C>T	8.37:g.36793054C>T							p.A1022A	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3103	+			1022						Silent	SNP	ENST00000399881.3	37	c.3066C>T	CCDS55220.1																																																																																				0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		9	245	0	0	0	1	0	9	245				
C8orf34	116328	broad.mit.edu	37	8	69688649	69688649	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:69688649G>A	ENST00000539993.1	+	11	1711	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000337103.4_Missense_Mutation_p.G363R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	388										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCCTCCAGTGGAGTAGGACA	0.408																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1087-1089)Gga>Aga		chromosome 8 open reading frame 34							85.0	87.0	86.0					8																	69688649		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69688649G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1162G>A	8.37:g.69688649G>A	ENSP00000438159:p.Gly388Arg					C8orf34_ENST00000539993.1_Missense_Mutation_p.G388R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R	p.G363R			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	2679	+			388					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	G	13.09	2.132904	0.37630	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.44881	0.92;0.96;0.95;0.91	5.43	4.53	0.55603	.	0.479295	0.22792	N	0.055597	T	0.26376	0.0644	N	0.19112	0.55	0.33611	D	0.60362	B	0.22746	0.074	B	0.23574	0.047	T	0.23226	-1.0194	9	.	.	.	-13.2896	10.3287	0.43809	0.0907:0.0:0.9093:0.0	.	388	Q49A92	CH034_HUMAN	R	474;388;363;132	ENSP00000427820:G474R;ENSP00000438159:G388R;ENSP00000337174:G363R;ENSP00000319532:G132R	.	G	+	1	0	C8orf34	69851203	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.376000	0.44292	2.824000	0.97209	0.655000	0.94253	GGA		0.408	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		5	167	0	0	0	1	0	5	167				
HMX1	3166	broad.mit.edu	37	4	8869848	8869848	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:8869848C>T	ENST00000400677.3	-	2	820	c.618G>A	c.(616-618)acG>acA	p.T206T	HMX1_ENST00000506970.2_Intron	NM_018942.2	NP_061815.2	Q9NP08	HMX1_HUMAN	H6 family homeobox 1	206					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)										AGACTGTGCGCGTCTTCTTCT	0.726																																						ENST00000400677.3																			0											c.(616-618)acG>acA		H6 family homeobox 1							11.0	16.0	15.0					4																	8869848		690	1589	2279	SO:0001819	synonymous_variant	3166				multicellular organismal development|negative regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:8869848C>T	M99587	CCDS47018.1	4p16.1	2011-06-20	2007-07-09			ENSG00000215612		"""Homeoboxes / ANTP class : NKL subclass"""	5017	protein-coding gene	gene with protein product		142992	"""homeo box (H6 family) 1"""			1360670	Standard	NM_018942		Approved	H6, NKX5-3	uc003izz.1	Q9NP08		ENST00000400677.3:c.618G>A	4.37:g.8869848C>T						HMX1_ENST00000506970.2_Intron	p.T206T	NM_018942.2	NP_061815.2	Q9NP08	HMX1_HUMAN			2	820	-			206						Silent	SNP	ENST00000400677.3	37	c.618G>A	CCDS47018.1																																																																																				0.726	HMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359147.14	NM_018942		2	1	0	0	0	1	0	2	1				
OR13C4	138804	broad.mit.edu	37	9	107288802	107288802	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:107288802G>A	ENST00000277216.3	-	1	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230*(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCCTGTGGCCGAGTTCGTTCG	0.418																																						ENST00000277216.3																			1	Substitution - Nonsense(1)	p.S230*(1)	lung(1)	breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(688-690)tCg>tTg		olfactory receptor, family 13, subfamily C, member 4							126.0	126.0	126.0					9																	107288802		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288802G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.689C>T	9.37:g.107288802G>A	ENSP00000277216:p.Ser230Leu						p.S230L	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	688	-			230					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.689C>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	6.878	0.531354	0.13127	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00330	8.08	4.05	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.199806	0.24681	N	0.036471	T	0.00815	0.0027	M	0.93808	3.46	0.09310	N	1	D	0.67145	0.996	P	0.60541	0.876	T	0.29971	-0.9994	10	0.87932	D	0	.	8.1999	0.31419	0.1954:0.0:0.8046:0.0	.	230	Q8NGS5	O13C4_HUMAN	L	230;259	ENSP00000277216:S230L	ENSP00000277216:S230L	S	-	2	0	OR13C4	106328623	0.001000	0.12720	0.348000	0.25681	0.005000	0.04900	1.159000	0.31749	0.460000	0.27045	0.585000	0.79938	TCG		0.418	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			5	266	0	0	0	1	0	5	266				
DGKZ	8525	broad.mit.edu	37	11	46391072	46391072	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:46391072G>A	ENST00000454345.1	+	6	1162	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	DGKZ_ENST00000532868.2_Missense_Mutation_p.R162H|DGKZ_ENST00000318201.8_Missense_Mutation_p.R158H|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R158H|DGKZ_ENST00000527911.1_Missense_Mutation_p.R158H|DGKZ_ENST00000395574.3_Missense_Mutation_p.R124H|DGKZ_ENST00000456247.2_Missense_Mutation_p.R157H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R174H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	346					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCGTCCTTCCGTGAATCAGGC	0.572											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1036-1038)cGt>cAt		diacylglycerol kinase, zeta							113.0	109.0	110.0					11																	46391072		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46391072G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1037G>A	11.37:g.46391072G>A	ENSP00000412178:p.Arg346His		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_ENST00000318201.8_Missense_Mutation_p.R158H|DGKZ_ENST00000395574.3_Missense_Mutation_p.R124H|DGKZ_ENST00000421244.2_Missense_Mutation_p.R158H|DGKZ_ENST00000456247.2_Missense_Mutation_p.R157H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R174H|DGKZ_ENST00000532868.2_Missense_Mutation_p.R162H|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.R158H	p.R346H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	6	1162	+			346					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1037G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532483	0.85812	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	T;T;T;T;T;T;T;T;T	0.25912	2.33;2.52;2.58;3.51;2.33;2.4;2.44;1.77;2.6	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.56396	1.775	0.80722	D	1	D;P;D;D;P;D;D;D;P	0.89917	0.981;0.955;1.0;1.0;0.953;0.973;1.0;1.0;0.955	B;B;D;D;B;P;D;D;B	0.76575	0.431;0.332;0.973;0.973;0.425;0.476;0.988;0.973;0.332	T	0.51220	-0.8733	10	0.62326	D	0.03	.	17.5453	0.87859	0.0:0.0:1.0:0.0	.	158;123;124;158;346;157;158;124;174	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	H	174;124;123;158;157;158;158;346;42	ENSP00000343065:R174H;ENSP00000378941:R124H;ENSP00000436273:R123H;ENSP00000436291:R158H;ENSP00000395684:R157H;ENSP00000391021:R158H;ENSP00000320340:R158H;ENSP00000412178:R346H;ENSP00000435763:R42H	ENSP00000320340:R158H	R	+	2	0	DGKZ	46347648	1.000000	0.71417	0.977000	0.42913	0.675000	0.39556	9.618000	0.98365	2.212000	0.71576	0.561000	0.74099	CGT		0.572	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		4	199	0	0	0	1	0	4	199				
ABRACL	58527	broad.mit.edu	37	6	139363876	139363876	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:139363876G>A	ENST00000367660.3	+	3	282	c.82G>A	c.(82-84)Gtg>Atg	p.V28M		NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like	28																	AAAGTTAAGCGTGAAATTTGG	0.368																																						ENST00000367660.3																			0											c.(82-84)Gtg>Atg		ABRA C-terminal like							233.0	213.0	219.0					6																	139363876		1895	4113	6008	SO:0001583	missense	58527							g.chr6:139363876G>A	BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 115"""	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.82G>A	6.37:g.139363876G>A	ENSP00000356632:p.Val28Met						p.V28M	NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN			3	282	+			28					Q5SZC8|Q9P0A1	Missense_Mutation	SNP	ENST00000367660.3	37	c.82G>A	CCDS43509.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790367	0.90367	.	.	ENSG00000146386	ENST00000367660	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83134	-0.0112	8	0.87932	D	0	-1.381	19.8961	0.96958	0.0:0.0:1.0:0.0	.	28	Q9P1F3	CF115_HUMAN	M	28	.	ENSP00000356632:V28M	V	+	1	0	C6orf115	139405569	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	9.334000	0.96470	2.699000	0.92147	0.655000	0.94253	GTG		0.368	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042445.1	NM_021243		8	349	0	0	0	1	0	8	349				
MAP1A	4130	broad.mit.edu	37	15	43822061	43822061	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:43822061A>G	ENST00000300231.5	+	5	8699	c.8249A>G	c.(8248-8250)aAt>aGt	p.N2750S	MAP1A_ENST00000382031.1_Missense_Mutation_p.N2988S|MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2750					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGGGGGAGAATCTTCAGGTG	0.557																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8962-8964)aAt>aGt		microtubule-associated protein 1A	Estramustine(DB01196)						38.0	41.0	40.0					15																	43822061		2081	4217	6298	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822061A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8249A>G	15.37:g.43822061A>G	ENSP00000300231:p.Asn2750Ser					MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S|MAP1A_ENST00000300231.5_Missense_Mutation_p.N2750S	p.N2988S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8994	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2750					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8963A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786345	0.49997	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02067	4.47;4.58;4.47	5.17	5.17	0.71159	.	.	.	.	.	T	0.10337	0.0253	M	0.63428	1.95	0.45621	D	0.998552	D	0.76494	0.999	D	0.69654	0.965	T	0.00681	-1.1612	9	0.72032	D	0.01	-16.4327	15.1864	0.73006	1.0:0.0:0.0:0.0	.	2750	P78559	MAP1A_HUMAN	S	2988;2750;2750	ENSP00000371462:N2988S;ENSP00000382380:N2750S;ENSP00000300231:N2750S	ENSP00000300231:N2750S	N	+	2	0	MAP1A	41609353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.176000	0.68965	0.379000	0.24179	AAT		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	69	0	0	0	1	0	5	69				
KRTAP5-6	440023	broad.mit.edu	37	11	1718511	1718511	+	Silent	SNP	C	C	T	rs201204719	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:1718511C>T	ENST00000382160.1	+	1	87	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	12						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTGGCTCCGGCTGTGGGG	0.642													N|||	5	0.000998403	0.0008	0.0	5008	,	,		13667	0.0		0.0	False		,,,				2504	0.0041					ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(34-36)tcC>tcT		keratin associated protein 5-6							64.0	82.0	76.0					11																	1718511		2200	4296	6496	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718511C>T	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.36C>T	11.37:g.1718511C>T							p.S12S	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	87	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	12					A1L452	Silent	SNP	ENST00000382160.1	37	c.36C>T	CCDS31332.1																																																																																				0.642	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			21	360	0	0	0	1	0	21	360				
TENM3	55714	broad.mit.edu	37	4	183676100	183676100	+	Missense_Mutation	SNP	A	A	G	rs202067365		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:183676100A>G	ENST00000511685.1	+	22	4703	c.4580A>G	c.(4579-4581)aAt>aGt	p.N1527S	TENM3_ENST00000406950.2_Missense_Mutation_p.N1527S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1527					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTGACATCAATGGTACTCAC	0.383																																						ENST00000511685.1																			0											c.(4579-4581)aAt>aGt		teneurin transmembrane protein 3		A	SER/ASN	3,3809		0,3,1903	75.0	75.0	75.0		4580	5.2	1.0	4		75	0,8262		0,0,4131	yes	missense	ODZ3	NM_001080477.1	46	0,3,6034	GG,GA,AA		0.0,0.0787,0.0248	benign	1527/2700	183676100	3,12071	1906	4131	6037	SO:0001583	missense	55714							g.chr4:183676100A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4580A>G	4.37:g.183676100A>G	ENSP00000424226:p.Asn1527Ser					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1527S	p.N1527S							22	4703	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4580A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044359	0.36085	7.87E-4	0.0	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16196	2.36;2.36	5.25	5.25	0.73442	.	.	.	.	.	T	0.15522	0.0374	L	0.45422	1.42	0.58432	D	0.999999	P	0.42692	0.787	B	0.38056	0.264	T	0.06006	-1.0851	9	0.21014	T	0.42	.	15.3157	0.74074	1.0:0.0:0.0:0.0	.	1527	Q9P273	TEN3_HUMAN	S	1527	ENSP00000424226:N1527S;ENSP00000385276:N1527S	ENSP00000385276:N1527S	N	+	2	0	ODZ3	183913094	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.139000	0.94554	2.210000	0.71456	0.460000	0.39030	AAT		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	113	0	0	0	1	0	6	113				
RFWD3	55159	broad.mit.edu	37	16	74695259	74695259	+	Missense_Mutation	SNP	T	T	C	rs549873711		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:74695259T>C	ENST00000361070.4	-	2	186	c.89A>G	c.(88-90)cAa>cGa	p.Q30R	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	30					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGGTCCCCCTTGGCTGCTGGC	0.567													T|||	1	0.000199681	0.0	0.0	5008	,	,		17389	0.0		0.0	False		,,,				2504	0.001					ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(88-90)cAa>cGa		ring finger and WD repeat domain 3							105.0	110.0	108.0					16																	74695259		2197	4298	6495	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695259T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.89A>G	16.37:g.74695259T>C	ENSP00000354361:p.Gln30Arg					RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			2	186	-			30					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.89A>G	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.868036	0.32977	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.24723	1.84	4.09	2.97	0.34412	.	.	.	.	.	T	0.23965	0.0580	M	0.61703	1.905	0.09310	N	1	B	0.29432	0.244	B	0.27500	0.08	T	0.17107	-1.0380	9	0.32370	T	0.25	-9.5206	6.868	0.24104	0.2057:0.0:0.0:0.7943	.	30	Q6PCD5	RFWD3_HUMAN	R	30	ENSP00000354361:Q30R	ENSP00000354361:Q30R	Q	-	2	0	RFWD3	73252760	0.664000	0.27457	0.359000	0.25824	0.033000	0.12548	0.692000	0.25482	0.719000	0.32188	0.533000	0.62120	CAA		0.567	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		13	325	0	0	0	1	0	13	325				
HUWE1	10075	broad.mit.edu	37	X	53644041	53644041	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:53644041C>A	ENST00000342160.3	-	20	2304	c.1847G>T	c.(1846-1848)cGa>cTa	p.R616L	HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L|HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	616					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAAGACCTCGGGCATTCAA	0.478																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1846-1848)cGa>cTa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							62.0	55.0	58.0					X																	53644041		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53644041C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1847G>T	X.37:g.53644041C>A	ENSP00000340648:p.Arg616Leu					HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L|HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L	p.R616L			Q7Z6Z7	HUWE1_HUMAN			20	2304	-			616					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1847G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176442	0.94846	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	0.93;0.93;0.93	5.45	5.45	0.79879	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.67449	0.2894	M	0.80183	2.485	0.54753	D	0.999987	D	0.76494	0.999	D	0.76575	0.988	T	0.72286	-0.4338	10	0.72032	D	0.01	.	17.0476	0.86508	0.0:1.0:0.0:0.0	.	616	Q7Z6Z7	HUWE1_HUMAN	L	616	ENSP00000340648:R616L;ENSP00000262854:R616L;ENSP00000218328:R616L	ENSP00000218328:R616L	R	-	2	0	HUWE1	53660766	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.421000	0.80204	2.289000	0.77006	0.594000	0.82650	CGA		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		26	69	1	0	4.72057e-08	1	4.89286e-08	26	69				
OR52I1	390037	broad.mit.edu	37	11	4615307	4615307	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4615307T>C	ENST00000530443.2	+	1	39	c.39T>C	c.(37-39)ccT>ccC	p.P13P	OR52I1_ENST00000450052.2_Silent_p.P37P	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACCCCTGCCTCCTTCC	0.473																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(109-111)ccT>ccC		olfactory receptor, family 52, subfamily I, member 1							177.0	170.0	172.0					11																	4615307		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615307T>C	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.39T>C	11.37:g.4615307T>C						OR52I1_ENST00000530443.2_Silent_p.P13P	p.P37P			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	111	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	13					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.111T>C	CCDS59223.1																																																																																				0.473	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		68	330	0	0	0	1	0	68	330				
DYNC2H1	79659	broad.mit.edu	37	11	103052532	103052532	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:103052532A>T	ENST00000375735.2	+	40	6538	c.6394A>T	c.(6394-6396)Aat>Tat	p.N2132Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2132	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGGTTGAGGAATCAGCCTGC	0.289																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6394-6396)Aat>Tat		dynein, cytoplasmic 2, heavy chain 1							28.0	28.0	28.0					11																	103052532		1785	4033	5818	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103052532A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6394A>T	11.37:g.103052532A>T	ENSP00000364887:p.Asn2132Tyr					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y	p.N2132Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	40	6538	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2132			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6394A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530740	0.45073	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.25749	1.78;1.78	5.42	5.42	0.78866	.	.	.	.	.	T	0.24509	0.0594	L	0.54323	1.7	0.29903	N	0.824199	B;P	0.44044	0.267;0.825	B;B	0.37304	0.093;0.246	T	0.31447	-0.9943	9	0.72032	D	0.01	.	9.9076	0.41386	0.9238:0.0:0.0762:0.0	.	2132;2132	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	2132	ENSP00000364887:N2132Y;ENSP00000381167:N2132Y	ENSP00000364887:N2132Y	N	+	1	0	DYNC2H1	102557742	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.940000	0.56599	2.070000	0.61991	0.477000	0.44152	AAT		0.289	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	14	0	0	0	1	0	7	14				
BMP1	649	broad.mit.edu	37	8	22064961	22064961	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:22064961G>A	ENST00000306385.5	+	18	3177	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	836	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAGGCAGCCGCATGTTCCTG	0.642																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2506-2508)cGc>cAc		bone morphogenetic protein 1							55.0	52.0	53.0					8																	22064961		2202	4299	6501	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064961G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2507G>A	8.37:g.22064961G>A	ENSP00000305714:p.Arg836His					BMP1_ENST00000354870.5_3'UTR	p.R836H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	3177	+			836			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2507G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683420	0.47991	.	.	ENSG00000168487	ENST00000306385	T	0.19105	2.17	5.26	5.26	0.73747	CUB (5);	0.000000	0.39274	U	0.001412	T	0.14743	0.0356	N	0.20685	0.6	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.05835	-1.0861	10	0.33940	T	0.23	.	13.4054	0.60911	0.0:0.1582:0.8418:0.0	.	836	P13497	BMP1_HUMAN	H	836	ENSP00000305714:R836H	ENSP00000305714:R836H	R	+	2	0	BMP1	22120906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.173000	0.58249	2.457000	0.83068	0.561000	0.74099	CGC		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		4	152	0	0	0	1	0	4	152				
CYSLTR2	57105	broad.mit.edu	37	13	49281360	49281360	+	Missense_Mutation	SNP	G	G	A	rs201503697		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:49281360G>A	ENST00000282018.3	+	1	410	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	136					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.R136H(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGTGTTGTGCGTTTCCTGGCA	0.473																																						ENST00000282018.3																			1	Substitution - Missense(1)	p.R136H(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(406-408)cGt>cAt		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)	G	HIS/ARG	0,4406		0,0,2203	224.0	214.0	217.0		407	6.1	1.0	13		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYSLTR2	NM_020377.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	136/347	49281360	1,13005	2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281360G>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.407G>A	13.37:g.49281360G>A	ENSP00000282018:p.Arg136His						p.R136H	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	410	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	136					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.407G>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482943	0.96307	0.0	1.16E-4	ENSG00000152207	ENST00000282018	D	0.97161	-4.27	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99121	0.9697	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99078	1.0836	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	136	Q9NS75	CLTR2_HUMAN	H	136	ENSP00000282018:R136H	ENSP00000282018:R136H	R	+	2	0	CYSLTR2	48179361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.894000	0.99253	0.655000	0.94253	CGT		0.473	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			5	389	0	0	0	1	0	5	389				
SCNN1B	6338	broad.mit.edu	37	16	23392080	23392080	+	Silent	SNP	G	G	A	rs369141410		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:23392080G>A	ENST00000343070.2	+	13	2057	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	SCNN1B_ENST00000568923.1_Silent_p.P600P|SCNN1B_ENST00000568085.1_Silent_p.P591P|SCNN1B_ENST00000307331.5_Silent_p.P672P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	627					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTCTGCAGCCGCTGGACGTCA	0.677																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1879-1881)ccG>ccA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)	G		0,4274		0,0,2137	42.0	47.0	45.0		1881	-9.7	0.6	16		45	2,8446		0,2,4222	no	coding-synonymous	SCNN1B	NM_000336.2		0,2,6359	AA,AG,GG		0.0237,0.0,0.0157		627/641	23392080	2,12720	2137	4224	6361	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23392080G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1881G>A	16.37:g.23392080G>A						SCNN1B_ENST00000307331.5_Silent_p.P672P|SCNN1B_ENST00000568923.1_Silent_p.P600P|SCNN1B_ENST00000568085.1_Silent_p.P591P	p.P627P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	2057	+			627					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1881G>A	CCDS10609.1																																																																																				0.677	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			14	225	0	0	0	1	0	14	225				
TBX20	57057	broad.mit.edu	37	7	35280566	35280566	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:35280566C>T	ENST00000408931.3	-	5	1264	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	246					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CTTCAGACTTCAGGTTGAGCA	0.393																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(736-738)ctG>ctA		T-box 20							113.0	103.0	106.0					7																	35280566		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35280566C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.738G>A	7.37:g.35280566C>T							p.L246L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			5	1264	-			246					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.738G>A	CCDS43568.1																																																																																				0.393	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		4	118	0	0	0	1	0	4	118				
CYP3A5	1577	broad.mit.edu	37	7	99250313	99250313	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:99250313T>C	ENST00000222982.4	-	11	1215	c.1116A>G	c.(1114-1116)agA>agG	p.R372R	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Silent_p.R362R	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	372					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCCTCTCAAGTCTAATAGCAA	0.443																																						ENST00000343703.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1084-1086)agA>agG		cytochrome P450, family 3, subfamily A, polypeptide 5							156.0	136.0	142.0					7																	99250313		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr7:99250313T>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1116A>G	7.37:g.99250313T>C						CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.R372R	p.R362R							12	1472	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)							A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.1086A>G	CCDS5672.1																																																																																				0.443	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			18	151	0	0	0	1	0	18	151				
PCCB	5096	broad.mit.edu	37	3	136046565	136046565	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:136046565G>A	ENST00000251654.4	+	13	1459	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	PCCB_ENST00000483687.1_Missense_Mutation_p.M444I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000471595.1_Missense_Mutation_p.M463I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	463	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTGCAGTCATGGGAGCAAAGG	0.522																																						ENST00000471595.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1387-1389)atG>atA		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)						107.0	94.0	98.0					3																	136046565		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136046565G>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1389G>A	3.37:g.136046565G>A	ENSP00000251654:p.Met463Ile					PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000251654.4_Missense_Mutation_p.M463I|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I|PCCB_ENST00000483687.1_Missense_Mutation_p.M444I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I	p.M463I			P05166	PCCB_HUMAN			13	1407	+			463			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1389G>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971092	0.92919	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.79	4.79	0.61399	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95745	3.715	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.91635	0.999;0.995;0.995	D	0.98786	1.0734	10	0.87932	D	0	.	18.0223	0.89258	0.0:0.0:1.0:0.0	.	483;463;463	B7Z2Z4;E9PDR0;P05166	.;.;PCCB_HUMAN	I	463;406;444;494;440;483;347;463;483	ENSP00000251654:M463I;ENSP00000418307:M406I;ENSP00000420639:M444I;ENSP00000419129:M494I;ENSP00000420391:M440I;ENSP00000420158:M483I;ENSP00000417253:M347I;ENSP00000417549:M463I;ENSP00000419027:M483I	ENSP00000251654:M463I	M	+	3	0	PCCB	137529255	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.165000	0.94761	2.492000	0.84095	0.491000	0.48974	ATG		0.522	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			29	43	0	0	0	1	0	29	43				
ATP13A5	344905	broad.mit.edu	37	3	193019013	193019013	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:193019013A>G	ENST00000342358.4	-	24	2879	c.2762T>C	c.(2761-2763)tTa>tCa	p.L921S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	921						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATAGAGCAGTAATGCACTGAT	0.348																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2761-2763)tTa>tCa		ATPase type 13A5							122.0	129.0	126.0					3																	193019013		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193019013A>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2762T>C	3.37:g.193019013A>G	ENSP00000341942:p.Leu921Ser					ATP13A5_ENST00000495496.1_5'UTR	p.L921S	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	24	2879	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		921					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2762T>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	2.294	-0.361687	0.05103	.	.	ENSG00000187527	ENST00000342358	D	0.87887	-2.31	6.13	-0.902	0.10537	.	1.013840	0.07891	N	0.971227	T	0.71375	0.3332	N	0.04132	-0.27	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.54063	-0.8349	10	0.22109	T	0.4	-0.0923	11.0209	0.47718	0.515:0.0:0.485:0.0	.	921	Q4VNC0	AT135_HUMAN	S	921	ENSP00000341942:L921S	ENSP00000341942:L921S	L	-	2	0	ATP13A5	194501707	0.344000	0.24827	0.943000	0.38184	0.019000	0.09904	1.470000	0.35354	-0.151000	0.11176	-1.075000	0.02238	TTA		0.348	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		21	291	0	0	0	1	0	21	291				
IGHV3-16	28447	broad.mit.edu	37	14	106622275	106622275	+	RNA	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:106622275A>G	ENST00000390604.2	-	0	120									immunoglobulin heavy variable 3-16 (non-functional)																		CACTCACTCAATATCCTTAGT	0.443																																						ENST00000390604.2																			0																				111.0	98.0	102.0					14																	106622275		1877	4110	5987			0							g.chr14:106622275A>G	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622275A>G														0	120	-									RNA	SNP	ENST00000390604.2	37																																																																																						0.443	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		8	267	0	0	0	1	0	8	267				
IKZF5	64376	broad.mit.edu	37	10	124758013	124758013	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124758013C>T	ENST00000368886.5	-	3	449	c.129G>A	c.(127-129)caG>caA	p.Q43Q	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GTCTACCTCCCTGAAGAGCCT	0.413																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(127-129)caG>caA		IKAROS family zinc finger 5 (Pegasus)							96.0	92.0	93.0					10																	124758013		1886	4112	5998	SO:0001819	synonymous_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124758013C>T	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.129G>A	10.37:g.124758013C>T						IKZF5_ENST00000479103.1_5'UTR	p.Q43Q	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	3	449	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	43					B3KVH7|D3DRE7|Q9H2T0	Silent	SNP	ENST00000368886.5	37	c.129G>A	CCDS41574.1																																																																																				0.413	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		4	152	0	0	0	1	0	4	152				
SERPINB9	5272	broad.mit.edu	37	6	2890403	2890403	+	Silent	SNP	C	C	T	rs376915869		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:2890403C>T	ENST00000380698.4	-	7	1214	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCCTTTATGGCGATGAGAACC	0.542																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(1123-1125)tcG>tcA		serpin peptidase inhibitor, clade B (ovalbumin), member 9		T		0,4406		0,0,2203	58.0	54.0	55.0		1125	-6.7	0.0	6		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB9	NM_004155.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		375/377	2890403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890403C>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1125G>A	6.37:g.2890403C>T							p.S375S	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			7	1214	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	375					B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	c.1125G>A	CCDS4478.1																																																																																				0.542	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			47	42	0	0	0	1	0	47	42				
CCT8L2	150160	broad.mit.edu	37	22	17073095	17073095	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:17073095G>A	ENST00000359963.3	-	1	605	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	116					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCTGTTCCAGCAAGGCTTCC	0.662																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(346-348)Ctg>Ttg		chaperonin containing TCP1, subunit 8 (theta)-like 2							59.0	48.0	52.0					22																	17073095		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073095G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.346C>T	22.37:g.17073095G>A							p.L116L	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	605	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	116					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.346C>T	CCDS13738.1																																																																																				0.662	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			30	47	0	0	0	1	0	30	47				
GPRASP2	114928	broad.mit.edu	37	X	101972002	101972002	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:101972002G>C	ENST00000535209.1	+	4	3036	c.2205G>C	c.(2203-2205)aaG>aaC	p.K735N	GPRASP2_ENST00000543253.1_Missense_Mutation_p.K735N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	735						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGAGAACGAAGTTTCACGTTC	0.393																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2203-2205)aaG>aaC		G protein-coupled receptor associated sorting protein 2							93.0	86.0	89.0					X																	101972002		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101972002G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2205G>C	X.37:g.101972002G>C	ENSP00000437394:p.Lys735Asn					GPRASP2_ENST00000535209.1_Missense_Mutation_p.K735N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N	p.K735N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3124	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2205G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495720	0.12762	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.35048	1.33;1.33;1.33	4.17	-1.74	0.08056	Armadillo-like helical (1);Armadillo-type fold (1);	0.142462	0.32473	N	0.006045	T	0.39064	0.1064	L	0.52011	1.625	0.21386	N	0.999703	D	0.52996	0.957	P	0.54060	0.741	T	0.37384	-0.9708	10	0.87932	D	0	.	8.8393	0.35131	0.6322:0.0:0.3678:0.0	.	735	Q96D09	GASP2_HUMAN	N	735	ENSP00000437872:K735N;ENSP00000437394:K735N;ENSP00000339057:K735N	ENSP00000339057:K735N	K	+	3	2	GPRASP2	101858658	1.000000	0.71417	0.322000	0.25334	0.037000	0.13140	0.473000	0.22132	-0.604000	0.05760	-0.312000	0.09012	AAG		0.393	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		27	297	0	0	0	1	0	27	297				
CDC7	8317	broad.mit.edu	37	1	91989862	91989862	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:91989862T>G	ENST00000428239.1	+	12	1854	c.1595T>G	c.(1594-1596)tTa>tGa	p.L532*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		aATACCAATTTAGAAGGCTGG	0.388																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1594-1596)tTa>tGa		cell division cycle 7							144.0	149.0	148.0					1																	91989862		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989862T>G	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1595T>G	1.37:g.91989862T>G	ENSP00000393139:p.Leu532*					CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*	p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1854	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	532			Protein kinase.		D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.1595T>G	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227528	0.95173	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	.	.	.	5.94	1.91	0.25777	.	0.753335	0.12755	N	0.441873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.7186	9.2416	0.37500	0.0:0.3264:0.0:0.6736	.	.	.	.	X	504;532;532	.	ENSP00000234626:L532X	L	+	2	0	CDC7	91762450	0.043000	0.20138	0.115000	0.21578	0.889000	0.51656	0.538000	0.23160	0.066000	0.16515	0.528000	0.53228	TTA		0.388	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		15	212	0	0	0	1	0	15	212				
GGCX	2677	broad.mit.edu	37	2	85777115	85777115	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:85777115T>G	ENST00000233838.4	-	15	2299	c.2219A>C	c.(2218-2220)gAt>gCt	p.D740A	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	740					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	ATGTGAAGAATCCGTGTTTGA	0.507																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2218-2220)gAt>gCt		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						79.0	75.0	76.0					2																	85777115		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777115T>G		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2219A>C	2.37:g.85777115T>G	ENSP00000233838:p.Asp740Ala					GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	p.D740A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2299	-			740					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.2219A>C	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220633	0.39201	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.29397	1.57;1.57	6.07	4.85	0.62838	.	0.532223	0.19895	N	0.103642	T	0.27419	0.0673	L	0.47716	1.5	0.09310	N	1	B;B;B	0.20368	0.009;0.044;0.02	B;B;B	0.19148	0.01;0.024;0.016	T	0.18209	-1.0344	10	0.72032	D	0.01	-3.8326	9.7169	0.40281	0.0:0.0:0.1741:0.8259	.	683;556;740	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	A	740;683	ENSP00000233838:D740A;ENSP00000408045:D683A	ENSP00000233838:D740A	D	-	2	0	GGCX	85630626	0.029000	0.19370	0.172000	0.22920	0.012000	0.07955	1.409000	0.34680	2.326000	0.78906	0.533000	0.62120	GAT		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		41	65	0	0	0	1	0	41	65				
RYBP	23429	broad.mit.edu	37	3	72427764	72427764	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:72427764C>G	ENST00000477973.2	-	4	723	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGCAGTGCTCCTGTCCACGT	0.483																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(724-726)Gag>Cag		RING1 and YY1 binding protein							113.0	108.0	110.0					3																	72427764		2058	4187	6245	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427764C>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.724G>C	3.37:g.72427764C>G	ENSP00000419494:p.Glu242Gln						p.E242Q	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	723	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.724G>C		.	.	.	.	.	.	.	.	.	.	C	18.42	3.619364	0.66787	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	3.4	0.38934	.	.	.	.	.	T	0.58538	0.2129	M	0.77486	2.375	.	.	.	.	.	.	.	.	.	T	0.66578	-0.5888	4	.	.	.	-9.0662	4.6702	0.12685	0.0:0.496:0.0:0.504	.	.	.	.	Q	242	.	.	E	-	1	0	RYBP	72510454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	1.364000	0.46038	0.650000	0.86243	GAG		0.483	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		6	147	0	0	0	1	0	6	147				
PRKDC	5591	broad.mit.edu	37	8	48790318	48790318	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:48790318A>T	ENST00000314191.2	-	41	5383	c.5327T>A	c.(5326-5328)tTa>tAa	p.L1776*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1777					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGATTGAAATAATTCTTCCAT	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5326-5328)tTa>tAa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							129.0	127.0	128.0					8																	48790318		1889	4101	5990	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48790318A>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5327T>A	8.37:g.48790318A>T	ENSP00000313420:p.Leu1776*					PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*|PRKDC_ENST00000523565.1_5'UTR	p.L1776*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			41	5383	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1777					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.5327T>A		.	.	.	.	.	.	.	.	.	.	A	44	10.968048	0.99496	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	4.46	0.54185	.	0.296531	0.28219	N	0.016147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8612	0.52467	0.8688:0.0:0.0:0.1312	.	.	.	.	X	1776	.	ENSP00000313420:L1776X	L	-	2	0	PRKDC	48952871	0.568000	0.26635	0.991000	0.47740	0.533000	0.34776	2.554000	0.45845	0.915000	0.36847	0.477000	0.44152	TTA		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	238	0	0	0	1	0	8	238				
SLAMF1	6504	broad.mit.edu	37	1	160604539	160604539	+	Silent	SNP	G	G	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:160604539G>T	ENST00000302035.6	-	3	913	c.564C>A	c.(562-564)gcC>gcA	p.A188A	SLAMF1_ENST00000355199.3_Silent_p.A188A|SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	188	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGAGCTGTTGGCTGGGTTCA	0.587																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(562-564)gcC>gcA		signaling lymphocytic activation molecule family member 1							133.0	124.0	127.0					1																	160604539		2203	4300	6503	SO:0001819	synonymous_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604539G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.564C>A	1.37:g.160604539G>T						SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A|SLAMF1_ENST00000355199.3_Silent_p.A188A	p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	913	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		188			Ig-like C2-type.		Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	37	c.564C>A	CCDS1207.1																																																																																				0.587	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			11	196	1	0	3.86212e-05	1	3.91729e-05	11	196				
RNGTT	8732	broad.mit.edu	37	6	89600293	89600293	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:89600293G>A	ENST00000369485.4	-	8	1003	c.817C>T	c.(817-819)Cct>Tct	p.P273S	RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	273	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATGGAAACAGGCTGTGCTCCA	0.383																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(817-819)Cct>Tct		RNA guanylyltransferase and 5'-phosphatase							101.0	93.0	95.0					6																	89600293		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89600293G>A	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.817C>T	6.37:g.89600293G>A	ENSP00000358497:p.Pro273Ser					RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S	p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	8	1003	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	273			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.817C>T	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681832	0.88542	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.3	5.3	0.74995	mRNA capping enzyme (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	H	0.94847	3.59	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	D	0.95499	0.8576	10	0.87932	D	0	.	19.3081	0.94173	0.0:0.0:1.0:0.0	.	213;273;273;273	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	S	273;273;213;244;273	ENSP00000358497:P273S;ENSP00000265607:P273S;ENSP00000442609:P213S;ENSP00000358487:P273S	ENSP00000265607:P273S	P	-	1	0	RNGTT	89657012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.311000	0.96282	2.638000	0.89438	0.591000	0.81541	CCT		0.383	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			44	80	0	0	0	1	0	44	80				
SLC52A3	113278	broad.mit.edu	37	20	745940	745940	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:745940C>T	ENST00000217254.7	-	2	720	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G160D	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	160					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GAGACCGGAGCCCTGGGCAAG	0.602																																						ENST00000381944.3																			0											c.(478-480)gGc>gAc		solute carrier family 52 (riboflavin transporter), member 3							71.0	68.0	69.0					20																	745940		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745940C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.479G>A	20.37:g.745940C>T	ENSP00000217254:p.Gly160Asp					SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G160D	p.G160D			Q9NQ40	RFT2_HUMAN			2	720	-			160					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.479G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146610	0.94603	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	D;D	0.96427	-4.01;-4.01	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98541	1.0632	10	0.56958	D	0.05	-28.4737	18.3092	0.90193	0.0:1.0:0.0:0.0	.	160;160	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	D	160	ENSP00000217254:G160D;ENSP00000371370:G160D	ENSP00000217254:G160D	G	-	2	0	C20orf54	693940	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.759000	0.85235	2.677000	0.91161	0.561000	0.74099	GGC		0.602	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		35	95	0	0	0	1	0	35	95				
ABCA13	154664	broad.mit.edu	37	7	48349704	48349704	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:48349704G>C	ENST00000435803.1	+	24	9506	c.9482G>C	c.(9481-9483)aGt>aCt	p.S3161T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3161					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTGCTGAGTCGAAACTTG	0.512																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9481-9483)aGt>aCt		ATP-binding cassette, sub-family A (ABC1), member 13							260.0	257.0	258.0					7																	48349704		2002	4187	6189	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349704G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9482G>C	7.37:g.48349704G>C	ENSP00000411096:p.Ser3161Thr						p.S3161T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			24	9506	+			3161					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9482G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668326	0.14776	.	.	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	5.84	0.575	0.17374	.	0.565106	0.17106	N	0.186790	T	0.69142	0.3078	N	0.14661	0.345	0.09310	N	1	B;B	0.17852	0.003;0.024	B;B	0.10450	0.002;0.005	T	0.52487	-0.8569	10	0.19147	T	0.46	.	9.713	0.40256	0.0:0.3272:0.3057:0.3671	.	863;3161	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3161	ENSP00000411096:S3161T	ENSP00000411096:S3161T	S	+	2	0	ABCA13	48320250	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	-0.015000	0.12634	0.073000	0.16731	-0.181000	0.13052	AGT		0.512	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	458	0	0	0	1	0	11	458				
CRIP2	1397	broad.mit.edu	37	14	105945493	105945493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:105945493G>A	ENST00000329146.4	+	6	1151	c.438G>A	c.(436-438)tgG>tgA	p.W146*	CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	146	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGATTGGCACCGGCCCT	0.766																																						ENST00000329146.4																			0				lung(2)	2						c.(436-438)tgG>tgA		cysteine-rich protein 2							18.0	21.0	20.0					14																	105945493		2153	4221	6374	SO:0001587	stop_gained	1397						zinc ion binding	g.chr14:105945493G>A		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.438G>A	14.37:g.105945493G>A	ENSP00000328521:p.Trp146*					CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*|CRIP2_ENST00000548989.1_3'UTR	p.W146*	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	6	1151	+		Melanoma(154;0.226)	146			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Nonsense_Mutation	SNP	ENST00000329146.4	37	c.438G>A	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	43|43	10.058886|10.058886	0.99327|0.99327	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|.	.|.	.|.	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.000000	.|0.45361	.|U	.|0.000371	T|.	0.33962|.	0.0881|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33879|.	-0.9851|.	3|.	.|0.02654	.|T	.|1	-0.4138|-0.4138	14.2005|14.2005	0.65699|0.65699	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	42;130|220;146	.|.	.|ENSP00000328521:W146X	A|W	+|+	1|3	0|0	CRIP2|CRIP2	105016538|105016538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.297000|9.297000	0.96120|0.96120	1.902000|1.902000	0.55061|0.55061	0.282000|0.282000	0.19409|0.19409	GCA|TGG		0.766	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		3	35	0	0	0	1	0	3	35				
SERP2	387923	broad.mit.edu	37	13	44953804	44953804	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:44953804G>A	ENST00000379179.3	+	2	296	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ATATCCTGTGGGACCATGGCT	0.413																																						ENST00000379179.3																			0				large_intestine(1)	1						c.(112-114)Gga>Aga		stress-associated endoplasmic reticulum protein family member 2							280.0	240.0	253.0					13																	44953804		2203	4300	6503	SO:0001583	missense	387923				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr13:44953804G>A	BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 21"""	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.112G>A	13.37:g.44953804G>A	ENSP00000368477:p.Gly38Arg						p.G38R	NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)	2	296	+		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	38						Missense_Mutation	SNP	ENST00000379179.3	37	c.112G>A	CCDS31965.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868202	0.91587	.	.	ENSG00000151778	ENST00000379179	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.81536	-0.0888	8	0.87932	D	0	.	16.7844	0.85570	0.0:0.0:1.0:0.0	.	38	Q8N6R1	SERP2_HUMAN	R	38	.	ENSP00000368477:G38R	G	+	1	0	SERP2	43851804	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.176000	0.89686	2.819000	0.97034	0.585000	0.79938	GGA		0.413	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044736.1	NM_001010897		17	175	0	0	0	1	0	17	175				
PTK2B	2185	broad.mit.edu	37	8	27279865	27279865	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:27279865G>A	ENST00000397501.1	+	10	1324	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000338238.4_Silent_p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGGTCAGCGAGGGCATGGCCC	0.652																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(514-516)gaG>gaA		protein tyrosine kinase 2 beta							64.0	53.0	56.0					8																	27279865		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27279865G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.516G>A	8.37:g.27279865G>A						PTK2B_ENST00000338238.4_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E	p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	10	1324	+		Ovarian(32;2.72e-05)	172			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.516G>A	CCDS6057.1																																																																																				0.652	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		3	69	0	0	0	1	0	3	69				
TTN	7273	broad.mit.edu	37	2	179615659	179615659	+	Intron	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:179615659A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L3823S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATATAAATGGTCTTT	0.363																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11467-11469)tTa>tCa		titin							102.0	111.0	108.0					2																	179615659		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615659A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2191T>C	2.37:g.179615659A>G						TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	p.L3823S	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11690	-			9657					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11468T>C		.	.	.	.	.	.	.	.	.	.	A	16.72	3.200823	0.58234	.	.	ENSG00000155657	ENST00000360870	T	0.59364	0.27	5.25	1.52	0.23074	.	.	.	.	.	T	0.28632	0.0709	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20107	-1.0285	9	0.06891	T	0.86	.	0.7856	0.01048	0.4434:0.1609:0.2409:0.1548	.	3823	Q8WZ42-6	.	S	3823	ENSP00000354117:L3823S	ENSP00000354117:L3823S	L	-	2	0	TTN	179323904	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	0.840000	0.27600	0.379000	0.24794	0.533000	0.62120	TTA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	212	0	0	0	1	0	47	212				
PDE6A	5145	broad.mit.edu	37	5	149323960	149323960	+	Missense_Mutation	SNP	G	G	A	rs200297339		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:149323960G>A	ENST00000255266.5	-	1	396	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGGCTCATGCGGTCTGCCTGC	0.517																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(277-279)Cgc>Tgc		phosphodiesterase 6A, cGMP-specific, rod, alpha		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	78.0	78.0	78.0		277	4.6	1.0	5		78	0,8600		0,0,4300	no	missense	PDE6A	NM_000440.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	93/861	149323960	2,13004	2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149323960G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.277C>T	5.37:g.149323960G>A	ENSP00000255266:p.Arg93Cys						p.R93C	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	396	-			93			GAF 1.		Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.277C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129052	0.56721	4.54E-4	0.0	ENSG00000132915	ENST00000255266	T	0.74842	-0.88	5.47	4.6	0.57074	GAF (2);	0.055697	0.64402	N	0.000001	T	0.79621	0.4477	M	0.90425	3.115	0.58432	D	0.999999	P	0.39940	0.696	B	0.40940	0.344	T	0.82133	-0.0608	10	0.59425	D	0.04	.	11.8932	0.52641	0.0849:0.0:0.9151:0.0	.	93	P16499	PDE6A_HUMAN	C	93	ENSP00000255266:R93C	ENSP00000255266:R93C	R	-	1	0	PDE6A	149304153	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.754000	0.68743	1.315000	0.45114	0.561000	0.74099	CGC		0.517	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			27	101	0	0	0	1	0	27	101				
SORL1	6653	broad.mit.edu	37	11	121414352	121414352	+	Missense_Mutation	SNP	G	G	A	rs368569394		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:121414352G>A	ENST00000260197.7	+	13	1910	c.1781G>A	c.(1780-1782)aGc>aAc	p.S594N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	594					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGGAGAAGAGCACTGTCTTC	0.517																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1780-1782)aGc>aAc		sortilin-related receptor, L(DLR class) A repeats containing							192.0	169.0	177.0					11																	121414352		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121414352G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1781G>A	11.37:g.121414352G>A	ENSP00000260197:p.Ser594Asn					SORL1_ENST00000532451.1_3'UTR	p.S594N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	13	1910	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	594					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1781G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380231	0.95945	.	.	ENSG00000137642	ENST00000260197	T	0.41065	1.01	5.8	5.8	0.92144	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.63892	-0.6534	10	0.72032	D	0.01	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	594	Q92673	SORL_HUMAN	N	594	ENSP00000260197:S594N	ENSP00000260197:S594N	S	+	2	0	SORL1	120919562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.567000	0.98161	2.735000	0.93741	0.655000	0.94253	AGC		0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		28	274	0	0	0	1	0	28	274				
LRRC53	100144878	broad.mit.edu	37	1	74954885	74954885	+	Intron	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:74954885T>A	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.F813I|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.F826I			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						AAGACCCGAATTTTCTGAAGT	0.348																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2437-2439)Ttt>Att		TNNI3 interacting kinase							74.0	86.0	82.0					1																	74954885		2203	4300	6503	SO:0001627	intron_variant	51086							g.chr1:74954885T>A			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5826A>T	1.37:g.74954885T>A						FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.F813I|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I	p.F813I	NM_001112808.2	NP_001106279.1					24	2453	+									Missense_Mutation	SNP	ENST00000294635.4	37	c.2437T>A		.	.	.	.	.	.	.	.	.	.	T	21.1	4.098709	0.76870	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	D;D;D	0.88046	-2.33;-2.33;-2.33	5.62	4.46	0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.164585	0.53938	D	0.000046	D	0.88749	0.6521	M	0.69463	2.115	0.54753	D	0.999987	D;D	0.69078	0.997;0.996	P;P	0.61658	0.875;0.892	D	0.89784	0.3963	10	0.87932	D	0	.	12.6575	0.56795	0.0:0.0:0.1382:0.8618	.	712;813	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	813;813;712	ENSP00000450895:F813I;ENSP00000359928:F813I;ENSP00000322251:F712I	ENSP00000322251:F712I	F	+	1	0	RP11-653A5.2;AC093158.1	74727473	1.000000	0.71417	0.868000	0.34077	0.986000	0.74619	5.482000	0.66833	0.921000	0.36994	0.528000	0.53228	TTT		0.348	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			10	70	0	0	0	1	0	10	70				
GCC2	9648	broad.mit.edu	37	2	109109230	109109230	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:109109230T>A	ENST00000309863.6	+	19	5145	c.4431T>A	c.(4429-4431)aaT>aaA	p.N1477K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1477					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGCTTAAGAATGAACCGACCA	0.388																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4429-4431)aaT>aaA		GRIP and coiled-coil domain containing 2							92.0	90.0	91.0					2																	109109230		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109109230T>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4431T>A	2.37:g.109109230T>A	ENSP00000307939:p.Asn1477Lys						p.N1477K	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			19	5145	+			1477					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4431T>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411847	0.42817	.	.	ENSG00000135968	ENST00000309863	T	0.28895	1.59	5.42	-2.34	0.06704	.	0.126201	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.25390	N	0.988538	B	0.17465	0.022	B	0.11329	0.006	T	0.35822	-0.9773	10	0.07482	T	0.82	.	10.9523	0.47336	0.0:0.4348:0.0:0.5652	.	1477	Q8IWJ2	GCC2_HUMAN	K	1477	ENSP00000307939:N1477K	ENSP00000307939:N1477K	N	+	3	2	GCC2	108475662	0.992000	0.36948	0.982000	0.44146	0.789000	0.44602	0.034000	0.13776	-0.335000	0.08451	-0.250000	0.11733	AAT		0.388	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		5	80	0	0	0	1	0	5	80				
RHOBTB3	22836	broad.mit.edu	37	5	95088046	95088046	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:95088046A>C	ENST00000379982.3	+	5	1182	c.674A>C	c.(673-675)gAa>gCa	p.E225A	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	225					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCTCAACTTGAACAACCAGGT	0.348																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(673-675)gAa>gCa		Rho-related BTB domain containing 3							99.0	104.0	102.0					5																	95088046		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95088046A>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.674A>C	5.37:g.95088046A>C	ENSP00000369318:p.Glu225Ala					GLRX_ENST00000508780.1_Intron	p.E225A	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1182	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	225					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.674A>C	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744678	0.49151	.	.	ENSG00000164292	ENST00000379982	T	0.64618	-0.11	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.27053	0.805	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.50363	-0.8837	10	0.38643	T	0.18	-23.7603	15.3831	0.74676	1.0:0.0:0.0:0.0	.	225	O94955	RHBT3_HUMAN	A	225	ENSP00000369318:E225A	ENSP00000369318:E225A	E	+	2	0	RHOBTB3	95113802	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	4.895000	0.63214	2.168000	0.68352	0.477000	0.44152	GAA		0.348	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		6	206	0	0	0	1	0	6	206				
TDRD6	221400	broad.mit.edu	37	6	46656908	46656908	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:46656908A>G	ENST00000316081.6	+	1	1043	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.Y348C|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	348	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CATGTGGACTATGGAAGGAAG	0.532																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1042-1044)tAt>tGt		tudor domain containing 6							111.0	103.0	105.0					6																	46656908		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656908A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1043A>G	6.37:g.46656908A>G	ENSP00000346065:p.Tyr348Cys					TDRD6_ENST00000316081.6_Missense_Mutation_p.Y348C	p.Y348C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1297	+			348			Tudor 2.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1043A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307541	0.23821	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.45	1.54	0.23209	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.528090	0.22622	N	0.057700	T	0.07908	0.0198	M	0.68593	2.085	0.27684	N	0.946353	B;B	0.32409	0.319;0.37	B;B	0.39706	0.204;0.307	T	0.29852	-0.9998	10	0.59425	D	0.04	-16.3726	2.3734	0.04336	0.5086:0.1329:0.0703:0.2882	.	348;348	F5H5M3;O60522	.;TDRD6_HUMAN	C	348	ENSP00000443299:Y348C;ENSP00000346065:Y348C	ENSP00000346065:Y348C	Y	+	2	0	TDRD6	46764867	0.026000	0.19158	0.229000	0.23960	0.948000	0.59901	0.469000	0.22067	0.099000	0.17552	-0.291000	0.09656	TAT		0.532	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	125	0	0	0	1	0	7	125				
SERPIND1	3053	broad.mit.edu	37	22	21134208	21134208	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:21134208G>A	ENST00000215727.5	+	2	891	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R203H	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	203	Glycosaminoglycan-binding site.				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	AATCTCTTCCGTAAGCTGACT	0.433																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(607-609)cGt>cAt		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						100.0	97.0	98.0					22																	21134208		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134208G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.608G>A	22.37:g.21134208G>A	ENSP00000215727:p.Arg203His					SERPIND1_ENST00000406799.1_Missense_Mutation_p.R203H|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	p.R203H	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	891	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	203			Glycosaminoglycan-binding site.		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.608G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988128	0.74589	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88201	-2.35;-2.35	5.97	4.96	0.65561	Serpin domain (3);	0.046303	0.85682	N	0.000000	D	0.86414	0.5927	L	0.43923	1.385	0.80722	D	1	P;P	0.37914	0.611;0.611	B;B	0.42188	0.266;0.379	D	0.85562	0.1228	10	0.45353	T	0.12	.	12.1071	0.53818	0.1375:0.0:0.8625:0.0	.	203;203	Q8IVC0;P05546	.;HEP2_HUMAN	H	203	ENSP00000215727:R203H;ENSP00000384050:R203H	ENSP00000215727:R203H	R	+	2	0	SERPIND1	19464208	1.000000	0.71417	0.922000	0.36590	0.993000	0.82548	5.835000	0.69368	1.531000	0.49152	0.655000	0.94253	CGT		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		4	205	0	0	0	1	0	4	205				
CYP7A1	1581	broad.mit.edu	37	8	59404091	59404091	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:59404091C>A	ENST00000301645.3	-	6	1595	c.1458G>T	c.(1456-1458)ttG>ttT	p.L486F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	486					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCAAAATGCCCAAGCCTGCCC	0.383									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1456-1458)ttG>ttT		cytochrome P450, family 7, subfamily A, polypeptide 1							37.0	38.0	37.0					8																	59404091		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404091C>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1458G>T	8.37:g.59404091C>A	ENSP00000301645:p.Leu486Phe						p.L486F	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			6	1595	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	486					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1458G>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719505	0.48728	.	.	ENSG00000167910	ENST00000301645	T	0.69926	-0.44	5.74	0.869	0.19096	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.33624	1.015	0.58432	D	0.999995	P	0.51351	0.944	P	0.50192	0.634	T	0.51988	-0.8635	10	0.10377	T	0.69	-17.334	4.1462	0.10217	0.2408:0.4373:0.0:0.322	.	486	P22680	CP7A1_HUMAN	F	486	ENSP00000301645:L486F	ENSP00000301645:L486F	L	-	3	2	CYP7A1	59566645	0.761000	0.28439	0.983000	0.44433	0.949000	0.60115	-0.037000	0.12164	-0.050000	0.13356	0.563000	0.77884	TTG		0.383	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		22	106	1	0	8.10497e-08	1	8.3399e-08	22	106				
EIF2D	1939	broad.mit.edu	37	1	206772892	206772892	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:206772892T>C	ENST00000271764.2	-	10	1335	c.1127A>G	c.(1126-1128)tAt>tGt	p.Y376C	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.Y252C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	376					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGAGGGTGATAGGGCTGTTC	0.532																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1126-1128)tAt>tGt		eukaryotic translation initiation factor 2D							76.0	86.0	83.0					1																	206772892		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206772892T>C	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1127A>G	1.37:g.206772892T>C	ENSP00000271764:p.Tyr376Cys					EIF2D_ENST00000367114.3_Missense_Mutation_p.Y252C	p.Y376C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			10	1335	-			376					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.1127A>G	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.251124	0.80135	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.45276	0.9;1.45	5.77	5.77	0.91146	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.94	T	0.59139	-0.7510	10	0.51188	T	0.08	-24.0196	14.9208	0.70835	0.0:0.0:0.0:1.0	.	252;376	P41214-2;P41214	.;EIF2D_HUMAN	C	252;376	ENSP00000356081:Y252C;ENSP00000271764:Y376C	ENSP00000271764:Y376C	Y	-	2	0	EIF2D	204839515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.198000	0.70561	0.533000	0.62120	TAT		0.532	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		6	159	0	0	0	1	0	6	159				
DAAM2	23500	broad.mit.edu	37	6	39846201	39846201	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:39846201G>A	ENST00000398904.2	+	13	1564	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H|DAAM2_ENST00000538976.1_Missense_Mutation_p.R461H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	461					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGTGAGCCGTCTGGAGAGG	0.547																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1381-1383)cGt>cAt		dishevelled associated activator of morphogenesis 2							34.0	39.0	38.0					6																	39846201		2012	4179	6191	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846201G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1382G>A	6.37:g.39846201G>A	ENSP00000381876:p.Arg461His					DAAM2_ENST00000398904.2_Missense_Mutation_p.R461H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H	p.R461H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			13	1564	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		461					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1382G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721597	0.68959	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.74209	-0.82;-0.82;-0.82	5.44	3.67	0.42095	.	0.373124	0.26241	N	0.025503	T	0.57562	0.2062	L	0.48642	1.525	0.80722	D	1	P;P	0.49696	0.927;0.88	P;B	0.45829	0.494;0.299	T	0.61806	-0.6987	10	0.72032	D	0.01	.	8.4848	0.33065	0.3044:0.0:0.6956:0.0	.	461;461	G5EA45;Q86T65	.;DAAM2_HUMAN	H	461	ENSP00000274867:R461H;ENSP00000381876:R461H;ENSP00000437808:R461H	ENSP00000274867:R461H	R	+	2	0	DAAM2	39954179	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.655000	0.46707	0.675000	0.31264	0.650000	0.86243	CGT		0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	15	0	0	0	1	0	7	15				
ZNF788	388507	broad.mit.edu	37	19	12221205	12221205	+	5'UTR	SNP	G	G	A	rs191263400		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:12221205G>A	ENST00000339302.4	+	0	294				ZNF788_ENST00000596883.1_Missense_Mutation_p.R50Q|ZNF788_ENST00000397759.3_5'Flank|ZNF788_ENST00000430298.2_Missense_Mutation_p.R30Q|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						AATCTCTACCGAGAAGTGATG	0.458													.|||	1	0.000199681	0.0	0.0	5008	,	,		19722	0.001		0.0	False		,,,				2504	0.0				Melanoma(116;440 1644 18510 25456 49479)	ENST00000430298.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(88-90)cGa>cAa		zinc finger family member 788																																				SO:0001623	5_prime_UTR_variant	388507							g.chr19:12221205G>A	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-344G>A	19.37:g.12221205G>A						ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_Missense_Mutation_p.R50Q|ZNF788_ENST00000339302.4_5'UTR	p.R30Q							2	294	+								Q6ZRE4	Missense_Mutation	SNP	ENST00000339302.4	37	c.89G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.88	1.769729	0.31320	.	.	ENSG00000214189	ENST00000430298	T	0.02579	4.24	0.799	-0.389	0.12455	.	.	.	.	.	T	0.03608	0.0103	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.35624	-0.9781	5	0.62326	D	0.03	.	3.2535	0.06823	0.3398:0.0:0.4607:0.1996	.	.	.	.	Q	30	ENSP00000391703:R30Q	ENSP00000391703:R30Q	R	+	2	0	ZNF788	12082205	0.731000	0.28111	0.206000	0.23566	0.045000	0.14185	0.403000	0.20982	-0.708000	0.05015	-1.644000	0.00765	CGA		0.458	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		17	89	0	0	0	1	0	17	89				
MYH4	4622	broad.mit.edu	37	17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1333-1335)cGc>cAc		myosin, heavy chain 4, skeletal muscle							196.0	181.0	186.0					17																	10363351		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363351C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1334G>A	17.37:g.10363351C>T	ENSP00000255381:p.Arg445His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R445H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			14	1444	-			445			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1334G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456265	0.96223	.	.	ENSG00000141048	ENST00000255381	D	0.88741	-2.42	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.38272	U	0.001758	D	0.95639	0.8582	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96124	0.9087	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	445	Q9Y623	MYH4_HUMAN	H	445	ENSP00000255381:R445H	ENSP00000255381:R445H	R	-	2	0	MYH4	10304076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.669000	0.90835	0.650000	0.86243	CGC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	416	0	0	0	1	0	6	416				
MYO18A	399687	broad.mit.edu	37	17	27442064	27442064	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:27442064G>A	ENST00000527372.1	-	14	2552	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	791	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGGAAGCCCGGGGTGTCGAC	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(2371-2373)cCg>cTg		myosin XVIIIA							36.0	41.0	39.0					17																	27442064		1984	4153	6137	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27442064G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2372C>T	17.37:g.27442064G>A	ENSP00000437073:p.Pro791Leu					MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L	p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		14	2552	-			791			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.2372C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182606	0.94885	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.26	5.26	0.73747	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.87391	0.2363	10	0.87932	D	0	.	18.878	0.92346	0.0:0.0:1.0:0.0	.	460;403;791;791;791	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	L	791;791;791;791;791;403	ENSP00000346291:P791L;ENSP00000435932:P791L;ENSP00000434228:P791L;ENSP00000437073:P791L	ENSP00000346291:P791L	P	-	2	0	MYO18A	24466190	1.000000	0.71417	0.635000	0.29338	0.948000	0.59901	9.359000	0.97115	2.470000	0.83445	0.561000	0.74099	CCG		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		6	64	0	0	0	1	0	6	64				
PASD1	139135	broad.mit.edu	37	X	150770028	150770028	+	Start_Codon_SNP	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:150770028G>A	ENST00000370357.4	+	2	248	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	1						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1-3)atG>atA		PAS domain containing 1							139.0	113.0	122.0					X																	150770028		2203	4300	6503	SO:0001582	initiator_codon_variant	139135					nucleus	signal transducer activity	g.chrX:150770028G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.3G>A	X.37:g.150770028G>A	ENSP00000359382:p.Met1Ile						p.M1I	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			2	248	+	Acute lymphoblastic leukemia(192;6.56e-05)		1					Q3MNE0|Q69HD7|Q8N7X9	Translation_Start_Site	SNP	ENST00000370357.4	37	c.3G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467007	0.26335	.	.	ENSG00000166049	ENST00000370357	T	0.75821	-0.97	4.96	-0.397	0.12423	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.09310	N	1	B	0.25312	0.123	B	0.19666	0.026	T	0.51926	-0.8643	8	0.87932	D	0	.	8.3287	0.32173	0.5094:0.0:0.4906:0.0	.	1	Q8IV76	PASD1_HUMAN	I	1	ENSP00000359382:M1I	ENSP00000359382:M1I	M	+	3	0	PASD1	150520684	0.175000	0.23083	0.000000	0.03702	0.000000	0.00434	0.342000	0.19926	-0.517000	0.06461	-0.269000	0.10298	ATG		0.408	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Missense_Mutation	7	199	0	0	0	1	0	7	199				
MAGEA12	4111	broad.mit.edu	37	X	151900377	151900377	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:151900377T>A	ENST00000357916.4	-	2	579	c.424A>T	c.(424-426)Aat>Tat	p.N142Y	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.N142Y|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.N142Y|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGAAATTTCTGATGACA	0.507																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(424-426)Aat>Tat		melanoma antigen family A, 12							147.0	139.0	142.0					X																	151900377		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900377T>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.424A>T	X.37:g.151900377T>A	ENSP00000350592:p.Asn142Tyr					MAGEA12_ENST00000357916.4_Missense_Mutation_p.N142Y|MAGEA12_ENST00000393869.3_Missense_Mutation_p.N142Y|CSAG4_ENST00000361201.4_RNA	p.N142Y	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	777	-	Acute lymphoblastic leukemia(192;6.56e-05)		142			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.424A>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395398	0.25205	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05319	3.46;3.46;3.46	0.8	-0.556	0.11803	.	1.106110	0.06736	N	0.777559	T	0.20700	0.0498	M	0.88842	2.985	0.09310	N	1	D	0.54207	0.965	P	0.55161	0.77	T	0.13548	-1.0505	9	0.66056	D	0.02	.	.	.	.	.	142	P43365	MAGAC_HUMAN	Y	142	ENSP00000350592:N142Y;ENSP00000377447:N142Y;ENSP00000377478:N142Y	ENSP00000350592:N142Y	N	-	1	0	MAGEA12	151651033	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.952000	0.03881	-0.254000	0.09500	0.143000	0.16000	AAT		0.507	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	457	0	0	0	1	0	5	457				
CDHR2	54825	broad.mit.edu	37	5	176011568	176011568	+	Silent	SNP	G	G	A	rs147485475	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:176011568G>A	ENST00000510636.1	+	19	2560	c.2286G>A	c.(2284-2286)ccG>ccA	p.P762P	CDHR2_ENST00000506348.1_Silent_p.P762P|CDHR2_ENST00000261944.5_Silent_p.P762P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	762	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGCTGCCCCCGGACGTGAGCC	0.622													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18404	0.0		0.0	False		,,,				2504	0.001					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2284-2286)ccG>ccA		cadherin-related family member 2		G	,	0,4406		0,0,2203	66.0	69.0	68.0		2286,2286	-10.2	0.0	5	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	762/1311,762/1311	176011568	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011568G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2286G>A	5.37:g.176011568G>A						CDHR2_ENST00000506348.1_Silent_p.P762P|CDHR2_ENST00000261944.5_Silent_p.P762P	p.P762P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2560	+			762			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2286G>A	CCDS34297.1																																																																																				0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	237	0	0	0	1	0	5	237				
RAB11FIP1	80223	broad.mit.edu	37	8	37734844	37734844	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:37734844C>T	ENST00000330843.4	-	2	609	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RAB11FIP1_ENST00000287263.4_Silent_p.S199S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S|RAB11FIP1_ENST00000524118.1_Silent_p.S51S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	199					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CACTGTCGACCGAAGGTGTCG	0.468																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(595-597)tcG>tcA		RAB11 family interacting protein 1 (class I)							281.0	256.0	265.0					8																	37734844		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37734844C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.597G>A	8.37:g.37734844C>T						RAB11FIP1_ENST00000287263.4_Silent_p.S199S|RAB11FIP1_ENST00000524118.1_Silent_p.S51S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S	p.S199S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	609	-		Lung NSC(58;0.118)|all_lung(54;0.195)	199					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.597G>A	CCDS34882.1																																																																																				0.468	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		11	406	0	0	0	1	0	11	406				
ACTR2	10097	broad.mit.edu	37	2	65467018	65467018	+	Silent	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:65467018T>C	ENST00000260641.5	+	2	238	c.81T>C	c.(79-81)ttT>ttC	p.F27F	ACTR2_ENST00000377982.4_Silent_p.F27F|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	27					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GCTCTAACTTTCCAGAACACA	0.343																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(79-81)ttT>ttC		ARP2 actin-related protein 2 homolog (yeast)							103.0	100.0	101.0					2																	65467018		2203	4300	6503	SO:0001819	synonymous_variant	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65467018T>C	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.81T>C	2.37:g.65467018T>C						ACTR2_ENST00000377982.4_Silent_p.F27F|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR	p.F27F	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			2	238	+			27					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	ENST00000260641.5	37	c.81T>C	CCDS1881.1																																																																																				0.343	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		23	208	0	0	0	1	0	23	208				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	69	0	0	0	1	0	3	69				
IGHV3-9	28451	broad.mit.edu	37	14	106552458	106552458	+	RNA	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:106552458C>G	ENST00000390600.2	-	0	260									immunoglobulin heavy variable 3-9																		AGGCCCTTCCCTGGAGCTTGC	0.562																																						ENST00000390600.2																			0																				87.0	67.0	74.0					14																	106552458		1841	3474	5315			0							g.chr14:106552458C>G	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552458C>G														0	260	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.562	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		4	264	0	0	0	1	0	4	264				
CDCA7	83879	broad.mit.edu	37	2	174231959	174231959	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:174231959C>G	ENST00000347703.3	+	8	1174	c.1030C>G	c.(1030-1032)Ctt>Gtt	p.L344V	CDCA7_ENST00000410101.3_Missense_Mutation_p.L379V|CDCA7_ENST00000410019.3_Missense_Mutation_p.L302V|CDCA7_ENST00000306721.3_Missense_Mutation_p.L423V|CDCA7_ENST00000392567.2_Missense_Mutation_p.L294V	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	344	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GACTGGGGTCCTTGTGTATTT	0.468																																						ENST00000306721.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18						c.(1267-1269)Ctt>Gtt		cell division cycle associated 7							162.0	148.0	152.0					2																	174231959		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231959C>G	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.1030C>G	2.37:g.174231959C>G	ENSP00000272789:p.Leu344Val					CDCA7_ENST00000347703.3_Missense_Mutation_p.L344V|CDCA7_ENST00000410101.3_Missense_Mutation_p.L379V|CDCA7_ENST00000392567.2_Missense_Mutation_p.L294V|CDCA7_ENST00000410019.3_Missense_Mutation_p.L302V	p.L423V	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		9	1370	+			344					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.1267C>G	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989019	0.74589	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.59906	0.45;0.23;0.38;0.44;0.46	5.7	4.64	0.57946	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.66939	2.045	0.50632	D	0.999887	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.991;0.999;0.993;0.999	T	0.73122	-0.4082	10	0.52906	T	0.07	-14.7516	13.3126	0.60388	0.0:0.8705:0.0:0.1295	.	302;379;344;423	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	V	344;294;423;379;302	ENSP00000272789:L344V;ENSP00000376348:L294V;ENSP00000306968:L423V;ENSP00000386656:L379V;ENSP00000386833:L302V	ENSP00000306968:L423V	L	+	1	0	CDCA7	173940205	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.668000	0.46816	2.683000	0.91414	0.655000	0.94253	CTT		0.468	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		5	231	0	0	0	1	0	5	231				
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																						ENST00000380378.1																			2	Substitution - Missense(2)	p.R302L(1)|p.R329L(1)	lung(2)	NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(985-987)cGc>cAc		olfactory receptor, family 51, subfamily T, member 1		G	HIS/ARG	0,4402		0,0,2201	93.0	88.0	90.0		986	4.0	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904034G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R302H	p.R329H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		11	189	0	0	0	1	0	11	189				
CCDC142	84865	broad.mit.edu	37	2	74709771	74709771	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:74709771T>G	ENST00000393965.3	-	1	590	c.194A>C	c.(193-195)gAg>gCg	p.E65A	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	65										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCGTAGTCCTCGCTCACATC	0.716																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(193-195)gAg>gCg		coiled-coil domain containing 142							27.0	28.0	28.0					2																	74709771		2155	4223	6378	SO:0001583	missense	84865							g.chr2:74709771T>G	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.194A>C	2.37:g.74709771T>G	ENSP00000377537:p.Glu65Ala					CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A|CCDC142_ENST00000471713.1_Intron	p.E65A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	590	-			65					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.194A>C		.	.	.	.	.	.	.	.	.	.	T	14.63	2.591481	0.46214	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.09255	3.0;3.0	4.44	0.524	0.17066	.	0.855318	0.09958	N	0.733759	T	0.09113	0.0225	L	0.47716	1.5	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.38628	-0.9652	9	.	.	.	-1.4387	5.3472	0.16016	0.0:0.1055:0.4033:0.4912	.	65;65;65	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	A	65	ENSP00000377537:E65A;ENSP00000290418:E65A	.	E	-	2	0	CCDC142	74563279	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.223000	0.17719	0.267000	0.21916	0.459000	0.35465	GAG		0.716	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		12	45	0	0	0	1	0	12	45				
MLF1	4291	broad.mit.edu	37	3	158314692	158314692	+	Silent	SNP	G	G	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:158314692G>C	ENST00000355893.5	+	3	375	c.237G>C	c.(235-237)gtG>gtC	p.V79V	MLF1_ENST00000471745.1_Silent_p.V69V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000359117.5_Silent_p.V54V|MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000392822.3_Silent_p.V110V	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	79	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAAATGGTGTCAAATATGA	0.313			T	NPM1	AML																																	ENST00000359117.5				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0				large_intestine(3)	3						c.(160-162)gtG>gtC		myeloid leukemia factor 1							66.0	64.0	65.0					3																	158314692		2202	4299	6501	SO:0001819	synonymous_variant	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158314692G>C	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.237G>C	3.37:g.158314692G>C						MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Silent_p.V69V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000392822.3_Silent_p.V110V|MLF1_ENST00000355893.5_Silent_p.V79V	p.V54V	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		3	398	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	79			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Silent	SNP	ENST00000355893.5	37	c.162G>C	CCDS3182.1																																																																																				0.313	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		3	72	0	0	0	1	0	3	72				
OR2T3	343173	broad.mit.edu	37	1	248637146	248637146	+	Silent	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:248637146C>T	ENST00000359594.2	+	1	520	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTTGCTCACCCCCATTACCA	0.537																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(493-495)acC>acT		olfactory receptor, family 2, subfamily T, member 3							32.0	31.0	31.0					1																	248637146		2170	4256	6426	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637146C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.495C>T	1.37:g.248637146C>T							p.T165T	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	520	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		165					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.495C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		21	114	0	0	0	1	0	21	114				
SYTL4	94121	broad.mit.edu	37	X	99934381	99934381	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:99934381C>A	ENST00000372989.1	-	17	1918	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q529H	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	529	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGATCCACACCTGGAGCTCTC	0.512																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1585-1587)caG>caT		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						131.0	94.0	107.0					X																	99934381		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99934381C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1587G>T	X.37:g.99934381C>A	ENSP00000362080:p.Gln529His					SYTL4_ENST00000372989.1_Missense_Mutation_p.Q529H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H	p.Q529H			Q96C24	SYTL4_HUMAN			16	1933	-			529			C2 2.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1587G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	9.951	1.220218	0.22457	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	4.87	2.88	0.33553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057177	0.64402	D	0.000001	T	0.32255	0.0823	N	0.00325	-1.645	0.37249	D	0.906475	B	0.14805	0.011	B	0.16289	0.015	T	0.06752	-1.0809	9	.	.	.	-3.9866	4.6395	0.12541	0.1508:0.5812:0.0:0.268	.	529	Q96C24	SYTL4_HUMAN	H	529;529;531;529;529	ENSP00000362080:Q529H;ENSP00000390252:Q529H;ENSP00000403556:Q531H;ENSP00000276141:Q529H;ENSP00000263033:Q529H	.	Q	-	3	2	SYTL4	99821037	0.772000	0.28567	1.000000	0.80357	0.999000	0.98932	-0.098000	0.11024	0.341000	0.23771	0.600000	0.82982	CAG		0.512	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		38	107	1	0	8.16277e-20	1	8.58603e-20	38	107				
MYH14	79784	broad.mit.edu	37	19	50784917	50784917	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:50784917C>T	ENST00000596571.1	+	30	4234	c.4234C>T	c.(4234-4236)Cgc>Tgc	p.R1412C	MYH14_ENST00000440075.2_Missense_Mutation_p.R1453C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1412					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGGCACGGCGCCGGGCAGC	0.726																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4357-4359)Cgc>Tgc		myosin, heavy chain 14, non-muscle							9.0	13.0	12.0					19																	50784917		1843	3934	5777	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50784917C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4234C>T	19.37:g.50784917C>T	ENSP00000472819:p.Arg1412Cys					MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1412C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C	p.R1453C			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	33	4404	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1412					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4357C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845113	0.71603	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	3.75	3.75	0.43078	Myosin tail (1);	.	.	.	.	D	0.88581	0.6475	M	0.66297	2.02	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.969;0.982;0.969	D	0.89247	0.3588	9	0.87932	D	0	.	11.3291	0.49467	0.0:1.0:0.0:0.0	.	1453;1412;1420	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1412;1453;1445;1420;1453	ENSP00000406273:R1453C;ENSP00000366169:R1445C;ENSP00000407879:R1420C;ENSP00000262269:R1453C	ENSP00000262269:R1453C	R	+	1	0	MYH14	55476729	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	-0.205000	0.09411	2.126000	0.65437	0.555000	0.69702	CGC		0.726	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		8	1	0	0	0	1	0	8	1				
CYP2C9	1559	broad.mit.edu	37	10	96740964	96740964	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:96740964G>A	ENST00000260682.6	+	7	998	c.986G>A	c.(985-987)cGt>cAt	p.R329H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	329					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGATTGAACGTGTGATTGGC	0.463																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(985-987)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						155.0	140.0	145.0					10																	96740964		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96740964G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.986G>A	10.37:g.96740964G>A	ENSP00000260682:p.Arg329His						p.R329H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	7	998	+		Colorectal(252;0.0902)	329					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.986G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	0.547	-0.851197	0.02651	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69926	-0.44	3.78	0.788	0.18601	.	0.896444	0.09409	U	0.806129	T	0.60470	0.2271	M	0.62266	1.93	0.09310	N	0.999999	B;B	0.18610	0.029;0.029	B;B	0.12837	0.008;0.008	T	0.49011	-0.8983	10	0.33940	T	0.23	.	8.291	0.31958	0.2727:0.0:0.7273:0.0	.	329;329	Q5VX92;P11712	.;CP2C9_HUMAN	H	329	ENSP00000260682:R329H	ENSP00000260682:R329H	R	+	2	0	CYP2C9	96730954	0.000000	0.05858	0.093000	0.20910	0.062000	0.15995	-2.912000	0.00698	0.061000	0.16311	-1.855000	0.00564	CGT		0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		17	248	0	0	0	1	0	17	248				
NOS1	4842	broad.mit.edu	37	12	117662871	117662871	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:117662871G>A	ENST00000338101.4	-	25	3882	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	NOS1_ENST00000317775.6_Missense_Mutation_p.A1259V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCGGAAAGGGGCAATGCCGGT	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3775-3777)gCc>gTc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						120.0	133.0	129.0					12																	117662871		1945	4141	6086	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662871G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3878C>T	12.37:g.117662871G>A	ENSP00000337459:p.Ala1293Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A1293V|NOS1_ENST00000344089.3_3'UTR	p.A1259V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4461	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1259						Missense_Mutation	SNP	ENST00000338101.4	37	c.3776C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368248	0.95900	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.87966	-2.32;-2.32	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	-39.1941	18.3244	0.90248	0.0:0.0:1.0:0.0	.	1259	P29475	NOS1_HUMAN	V	1154;1259;1293	ENSP00000320758:A1259V;ENSP00000337459:A1293V	ENSP00000320758:A1259V	A	-	2	0	NOS1	116147254	1.000000	0.71417	0.738000	0.30950	0.870000	0.49936	9.629000	0.98417	2.555000	0.86185	0.561000	0.74099	GCC		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	336	0	0	0	1	0	5	336				
NOS1AP	9722	broad.mit.edu	37	1	162313631	162313631	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:162313631G>A	ENST00000361897.5	+	6	862	c.460G>A	c.(460-462)Gct>Act	p.A154T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	154	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAGAGCCAAGCTATGAGAAT	0.537																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(460-462)Gct>Act		nitric oxide synthase 1 (neuronal) adaptor protein							91.0	89.0	90.0					1																	162313631		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313631G>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.460G>A	1.37:g.162313631G>A	ENSP00000355133:p.Ala154Thr					NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T	p.A154T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	862	+	all_hematologic(112;0.203)		154			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.460G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414267	0.96092	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.35048	1.33;1.33	5.79	5.79	0.91817	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.69823	2.125	.	.	.	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.91635	0.999;0.967;0.999	T	0.54483	-0.8287	9	0.56958	D	0.05	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	149;149;154	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	149;154	ENSP00000431586:A149T;ENSP00000355133:A154T	ENSP00000355133:A154T	A	+	1	0	NOS1AP	160580255	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.337000	0.96545	2.733000	0.93635	0.655000	0.94253	GCT		0.537	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		9	197	0	0	0	1	0	9	197				
HSPA1L	3305	broad.mit.edu	37	6	31779583	31779583	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:31779583G>A	ENST00000375654.4	-	2	356	c.167C>T	c.(166-168)gCg>gTg	p.A56V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	56					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTTGGCCGCATCCCCAAT	0.532																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(166-168)gCg>gTg		heat shock 70kDa protein 1-like							123.0	110.0	114.0					6																	31779583		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779583G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.167C>T	6.37:g.31779583G>A	ENSP00000364805:p.Ala56Val					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	356	-			56					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.167C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894753	0.17613	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01084	5.36;5.36	4.52	3.65	0.41850	.	.	.	.	.	T	0.01156	0.0038	M	0.86864	2.845	0.80722	D	1	B	0.19935	0.04	B	0.15870	0.014	T	0.23691	-1.0181	9	0.87932	D	0	.	10.2878	0.43577	0.0971:0.0:0.9029:0.0	.	56	P34931	HS71L_HUMAN	V	56	ENSP00000364805:A56V;ENSP00000387691:A56V	ENSP00000364804:A56V	A	-	2	0	HSPA1L	31887562	1.000000	0.71417	0.307000	0.25127	0.017000	0.09413	7.815000	0.86186	1.106000	0.41623	-0.384000	0.06662	GCG		0.532	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			5	302	0	0	0	1	0	5	302				
MAGEB6	158809	broad.mit.edu	37	X	26212566	26212566	+	Silent	SNP	G	G	A	rs375231005		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:26212566G>A	ENST00000379034.1	+	2	752	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGCGTGCACGTTGGCGCAAT	0.483													.|||	1	0.000264901	0.0	0.0	3775	,	,		16745	0.001		0.0	False		,,,				2504	0.0					ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(601-603)acG>acA		melanoma antigen family B, 6		G		0,3833		0,0,1631,571	84.0	71.0	75.0		603	-0.0	0.0	X		75	1,6727		0,1,2427,1872	no	coding-synonymous	MAGEB6	NM_173523.2		0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095		201/408	26212566	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212566G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.603G>A	X.37:g.26212566G>A							p.T201T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	752	+			201			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.603G>A	CCDS14217.1																																																																																				0.483	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		9	222	0	0	0	1	0	9	222				
TNIK	23043	broad.mit.edu	37	3	170843805	170843805	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:170843805G>A	ENST00000436636.2	-	17	2253	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	637	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R637C(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTGGCGTGGCATCTCC	0.572																																						ENST00000436636.2																			2	Substitution - Missense(2)	p.R637C(2)	large_intestine(2)	cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1909-1911)Cgc>Tgc		TRAF2 and NCK interacting kinase							85.0	87.0	87.0					3																	170843805		1923	4135	6058	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843805G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1909C>T	3.37:g.170843805G>A	ENSP00000399511:p.Arg637Cys					TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C	p.R637C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2253	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		637			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1909C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504781	0.85176	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74947	0.88;0.88;-0.85;-0.82;0.88;-0.86;0.88;-0.89;-0.84;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79108	0.992;0.975;0.992;0.992;0.988;0.975;0.992;0.972	T	0.82575	-0.0389	10	0.52906	T	0.07	.	14.6057	0.68478	0.0:0.0:0.8199:0.1801	.	553;608;582;553;637;608;582;637	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	C	637;608;582;553;637;553;608;582;582;608	ENSP00000399511:R637C;ENSP00000358332:R608C;ENSP00000443278:R582C;ENSP00000345352:R553C;ENSP00000284483:R637C;ENSP00000418156:R553C;ENSP00000349880:R608C;ENSP00000418916:R582C;ENSP00000418378:R582C;ENSP00000419990:R608C	ENSP00000284483:R637C	R	-	1	0	TNIK	172326499	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	7.040000	0.76551	2.761000	0.94854	0.655000	0.94253	CGC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		28	95	0	0	0	1	0	28	95				
EYA1	2138	broad.mit.edu	37	8	72127688	72127688	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:72127688T>C	ENST00000340726.3	-	16	2170	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	EYA1_ENST00000388742.4_Missense_Mutation_p.K511E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000388741.2_Missense_Mutation_p.K477E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	511					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.K511*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGCAGGACTTTCGCCAATGCT	0.338																																						ENST00000340726.3																			1	Substitution - Nonsense(1)	p.K511*(1)	lung(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1531-1533)Aaa>Gaa		eyes absent homolog 1 (Drosophila)							90.0	95.0	93.0					8																	72127688		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127688T>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1531A>G	8.37:g.72127688T>C	ENSP00000342626:p.Lys511Glu					EYA1_ENST00000388742.4_Missense_Mutation_p.K511E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388741.2_Missense_Mutation_p.K477E	p.K511E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		16	2170	-	Breast(64;0.046)		511					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1531A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	31	5.058462	0.93846	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.52	5.52	0.82312	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.099742	0.64402	D	0.000002	D	0.90971	0.7161	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.976;1.0;0.999;0.976;0.993	D	0.92155	0.5731	10	0.87932	D	0	-18.5334	15.6365	0.76958	0.0:0.0:0.0:1.0	.	505;438;478;511;476	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	E	511;511;479;478;505;477;510;476	ENSP00000373394:K511E;ENSP00000342626:K511E;ENSP00000373392:K478E;ENSP00000303221:K505E;ENSP00000373393:K477E;ENSP00000373395:K510E;ENSP00000410176:K476E	ENSP00000303221:K505E	K	-	1	0	EYA1	72290242	1.000000	0.71417	0.917000	0.36280	0.967000	0.64934	7.954000	0.87848	2.091000	0.63221	0.460000	0.39030	AAA		0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		9	258	0	0	0	1	0	9	258				
PCDHGA12	26025	broad.mit.edu	37	5	140810520	140810520	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:140810520G>A	ENST00000252085.3	+	1	336	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	65	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATCATCCCC	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(193-195)cGc>cAc									59.0	73.0	68.0					5																	140810520		2203	4300	6503	SO:0001583	missense	0							g.chr5:140810520G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.194G>A	5.37:g.140810520G>A	ENSP00000252085:p.Arg65His					PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R65H	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.194G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	17.33	3.362488	0.61403	.	.	ENSG00000253159	ENST00000252085	T	0.38240	1.15	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57946	0.2088	M	0.92122	3.275	0.33650	D	0.608408	P;D	0.56746	0.923;0.977	P;P	0.50270	0.636;0.597	T	0.76271	-0.3020	9	0.51188	T	0.08	.	13.4402	0.61108	0.0761:0.0:0.9239:0.0	.	65;65	O60330-2;O60330	.;PCDGC_HUMAN	H	65	ENSP00000252085:R65H	ENSP00000252085:R65H	R	+	2	0	PCDHGA12	140790704	0.050000	0.20438	1.000000	0.80357	0.276000	0.26787	1.821000	0.39041	2.617000	0.88574	0.555000	0.69702	CGC		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		9	239	0	0	0	1	0	9	239				
SASH1	23328	broad.mit.edu	37	6	148865734	148865734	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:148865734C>G	ENST00000367467.3	+	18	3603	c.3128C>G	c.(3127-3129)cCt>cGt	p.P1043R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1043	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTCCCAGGCCTCTCTCAGGG	0.697																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3127-3129)cCt>cGt		SAM and SH3 domain containing 1							15.0	18.0	17.0					6																	148865734		2199	4296	6495	SO:0001583	missense	23328						protein binding	g.chr6:148865734C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3128C>G	6.37:g.148865734C>G	ENSP00000356437:p.Pro1043Arg						p.P1043R	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3603	+		Ovarian(120;0.0169)	1043			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3128C>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828322	0.16749	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.37411	1.2	4.77	4.77	0.60923	.	0.345548	0.29806	N	0.011160	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.26969	0.075;0.047	T	0.20739	-1.0266	10	0.87932	D	0	-0.8224	17.7923	0.88558	0.0:1.0:0.0:0.0	.	1024;1043	Q6P4R9;O94885	.;SASH1_HUMAN	R	1043;453	ENSP00000356437:P1043R	ENSP00000356437:P1043R	P	+	2	0	SASH1	148907427	0.019000	0.18553	0.003000	0.11579	0.013000	0.08279	2.602000	0.46257	2.198000	0.70561	0.650000	0.86243	CCT		0.697	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	44	0	0	0	1	0	4	44				
NMNAT1	64802	broad.mit.edu	37	1	10042595	10042595	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:10042595A>G	ENST00000377205.1	+	5	820	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	226					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCACAAAAATCCGGAGAGC	0.448																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(676-678)Atc>Gtc		nicotinamide nucleotide adenylyltransferase 1							81.0	79.0	80.0					1																	10042595		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10042595A>G	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.676A>G	1.37:g.10042595A>G	ENSP00000366410:p.Ile226Val						p.I226V	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	5	820	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	226					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.676A>G	CCDS108.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796424	0.31777	.	.	ENSG00000173614	ENST00000377205	D	0.98849	-5.18	5.01	5.01	0.66863	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.063492	0.64402	D	0.000008	D	0.95439	0.8519	N	0.16833	0.445	0.58432	D	0.999993	P	0.39022	0.655	B	0.39771	0.309	D	0.95371	0.8464	10	0.12430	T	0.62	-0.3038	15.0172	0.71594	1.0:0.0:0.0:0.0	.	226	Q9HAN9	NMNA1_HUMAN	V	226	ENSP00000366410:I226V	ENSP00000366410:I226V	I	+	1	0	NMNAT1	9965182	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	4.883000	0.63128	2.005000	0.58758	0.379000	0.24179	ATC		0.448	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			71	11	0	0	0	1	0	71	11				
BTK	695	broad.mit.edu	37	X	100617592	100617592	+	Silent	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:100617592G>A	ENST00000308731.7	-	6	640	c.477C>T	c.(475-477)gcC>gcT	p.A159A	BTK_ENST00000372880.1_Silent_p.A159A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	159					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGCATTTTTGGCTGTCTGAG	0.438									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(475-477)gcC>gcT		Bruton agammaglobulinemia tyrosine kinase							137.0	126.0	130.0					X																	100617592		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617592G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.477C>T	X.37:g.100617592G>A						BTK_ENST00000372880.1_Silent_p.A159A	p.A159A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			6	640	-			159					B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.477C>T	CCDS14482.1																																																																																				0.438	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		5	297	0	0	0	1	0	5	297				
SATB1	6304	broad.mit.edu	37	3	18428052	18428052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:18428052G>A	ENST00000338745.6	-	8	2992	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	420					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGCAAAGACTGGGATGCAGTC	0.502																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1258-1260)Cag>Tag		SATB homeobox 1							115.0	115.0	115.0					3																	18428052		2203	4300	6503	SO:0001587	stop_gained	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18428052G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1258C>T	3.37:g.18428052G>A	ENSP00000341024:p.Gln420*					SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*	p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			8	2992	-			420					B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	ENST00000338745.6	37	c.1258C>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	40	8.359717	0.98777	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-22.0275	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	420	.	ENSP00000341024:Q420X	Q	-	1	0	SATB1	18403056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.878000	0.98634	0.650000	0.86243	CAG		0.502	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	184	0	0	0	1	0	7	184				
RAD54B	25788	broad.mit.edu	37	8	95412677	95412677	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:95412677C>T	ENST00000336148.5	-	7	1083	c.959G>A	c.(958-960)tGt>tAt	p.C320Y		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	320	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AATAGCTCCACATCTGCCATT	0.373								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(958-960)tGt>tAt	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							51.0	45.0	47.0					8																	95412677		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412677C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.959G>A	8.37:g.95412677C>T	ENSP00000336606:p.Cys320Tyr						p.C320Y	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1083	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.959G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	0.466	-0.886859	0.02511	.	.	ENSG00000197275	ENST00000336148	D	0.93019	-3.15	5.65	-3.02	0.05446	DEAD-like helicase (2);SNF2-related (1);	0.452778	0.27754	N	0.017989	T	0.74382	0.3709	N	0.02876	-0.465	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64829	-0.6315	10	0.02654	T	1	-24.9501	6.1766	0.20447	0.2384:0.2349:0.0:0.5268	.	320	Q9Y620	RA54B_HUMAN	Y	320	ENSP00000336606:C320Y	ENSP00000336606:C320Y	C	-	2	0	RAD54B	95481853	0.784000	0.28713	0.954000	0.39281	0.929000	0.56500	-0.049000	0.11924	-0.423000	0.07394	-0.355000	0.07637	TGT		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		12	51	0	0	0	1	0	12	51				
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	lincRNA	DEL	A	A	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:700514delA	ENST00000428504.1	-	0	1039				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						actccatctcaaaaaaaaaaa	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700514delA																													1.37:g.700514delA								NR_033908.1						0	1039	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			2	4						2	4	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150922948	150922950	+	In_Frame_Del	DEL	CCA	CCA	-	rs376221752		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:150922948_150922950delCCA	ENST00000271640.5	+	13	1785_1787	c.1595_1597delCCA	c.(1594-1599)tccaca>tca	p.T533del	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_In_Frame_Del_p.T533del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	533					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTTAGGCTCCACAGCCTCTGC	0.576																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1594-1599)tca>t		SET domain, bifurcated 1																																				SO:0001651	inframe_deletion	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150922948_150922950delCCA	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1595_1597delCCA	1.37:g.150922948_150922950delCCA	ENSP00000271640:p.Thr533del					SETDB1_ENST00000368969.4_In_Frame_Del_p.ST532del|SETDB1_ENST00000459773.1_Intron	p.ST532del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1785_1787	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		532					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	In_Frame_Del	DEL	ENST00000271640.5	37	c.1595_1597delCCA	CCDS44217.1																																																																																				0.576	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			10	265						10	265	---	---	---	---
QARS	5859	broad.mit.edu	37	3	49139864	49139866	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49139864_49139866delCTC	ENST00000306125.6	-	6	893_895	c.556_558delGAG	c.(556-558)gagdel	p.E186del	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_In_Frame_Del_p.E175del|QARS_ENST00000420147.2_In_Frame_Del_p.E204del			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	186					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAACTTCTTCTCCAGATCAGCC	0.576																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(556-558)del		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)																																			SO:0001651	inframe_deletion	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49139864_49139866delCTC	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.556_558delGAG	3.37:g.49139864_49139866delCTC	ENSP00000307567:p.Glu186del					QARS_ENST00000420147.2_In_Frame_Del_p.E204del|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_In_Frame_Del_p.E175del	p.E186del			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	893_895	-			186					B4DWJ2	In_Frame_Del	DEL	ENST00000306125.6	37	c.556_558delGAG	CCDS2788.1																																																																																				0.576	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		9	159						9	159	---	---	---	---
USP4	7375	broad.mit.edu	37	3	49365164	49365166	+	In_Frame_Del	DEL	TAG	TAG	-	rs143074429	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49365164_49365166delTAG	ENST00000265560.4	-	3	359_361	c.313_315delCTA	c.(313-315)ctadel	p.L105del	USP4_ENST00000351842.4_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	105	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGTACCAGTTTAGTAGTTTATTC	0.443																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(313-315)del		ubiquitin specific peptidase 4 (proto-oncogene)																																				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49365164_49365166delTAG	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.313_315delCTA	3.37:g.49365167_49365169delTAG	ENSP00000265560:p.Leu105del					USP4_ENST00000265560.4_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del	p.L105del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	3	321_323	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	105			DUSP.		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.313_315delCTA	CCDS2793.1																																																																																				0.443	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		17	181						17	181	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		5	6						5	6	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G	rs201480883		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		catgcgcaacaggggactgtaa	0.366																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690462_195690463insG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690466_195690466dupG								NR_003264.2						0	2203	-									RNA	INS	ENST00000427841.1	37																																																																																						0.366	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	5						3	5	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100268753	100268754	+	RNA	INS	-	-	ATTTAT	rs35500540|rs34736030	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:100268753_100268754insATTTAT	ENST00000510055.1	-	0	295				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AAAATTTAACAATTTATACTTT	0.243														1075	0.214657	0.0998	0.2709	5008	,	,		14529	0.0764		0.4056	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268753_100268754insATTTAT	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268754_100268759dupATTTAT						ADH1C_ENST00000510055.1_RNA		NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	472	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000510055.1	37																																																																																						0.243	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		3	4						3	4	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028465	100028465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:100028465delC	ENST00000310512.2	+	1	1212	c.824delC	c.(823-825)gcafs	p.A276fs	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	276					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGCAGGCAGCCGGAGGG	0.652																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(823-825)gafs		methylphosphate capping enzyme							89.0	98.0	95.0					7																	100028465		2203	4300	6503	SO:0001589	frameshift_variant	56257						methyltransferase activity	g.chr7:100028465delC	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.824delC	7.37:g.100028465delC	ENSP00000308546:p.Ala276fs					MEPCE_ENST00000414441.1_5'UTR	p.A276fs	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1212	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		276					B3KP86|D6W5V7|Q9NPD4	Frame_Shift_Del	DEL	ENST00000310512.2	37	c.824delC	CCDS5693.1																																																																																				0.652	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			28	311						28	311	---	---	---	---
TMEM70	54968	broad.mit.edu	37	8	74893730	74893733	+	Frame_Shift_Del	DEL	GTTA	GTTA	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:74893730_74893733delGTTA	ENST00000312184.5	+	3	730_733	c.657_660delGTTA	c.(655-660)ctgttafs	p.LL219fs	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	219					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CAAAATCACTGTTAGTTAATCCAG	0.348																																						ENST00000312184.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(655-660)ctfs		transmembrane protein 70																																				SO:0001589	frameshift_variant	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74893730_74893733delGTTA	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.657_660delGTTA	8.37:g.74893734_74893737delGTTA	ENSP00000312599:p.Leu219fs						p.LL219fs	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		3	730_733	+	Breast(64;0.0311)		219					E9PDY9|Q9NWY5	Frame_Shift_Del	DEL	ENST00000312184.5	37	c.657_660delGTTA	CCDS6215.1																																																																																				0.348	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		20	178						20	178	---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73580004	73580006	+	In_Frame_Del	DEL	TTG	TTG	-	rs546727182	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:73580004_73580006delTTG	ENST00000394936.3	-	9	1143_1145	c.996_998delCAA	c.(994-999)aacaag>aag	p.N332del	PSAP_ENST00000394934.1_In_Frame_Del_p.N334del			P07602	SAP_HUMAN	prosaposin	332	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TACCTCAGTCTTGTTGTTGTCAA	0.557																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(994-999)aag>aa		prosaposin			,,	7,4257		2,3,2127					,,	2.3	0.2			234	15,8239		7,1,4119	no	coding,coding,coding	PSAP	NM_002778.2,NM_001042466.1,NM_001042465.1	,,	9,4,6246	A1A1,A1R,RR		0.1817,0.1642,0.1757	,,	,,		22,12496				SO:0001651	inframe_deletion	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73580004_73580006delTTG	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.996_998delCAA	10.37:g.73580010_73580012delTTG	ENSP00000378394:p.Asn332del					PSAP_ENST00000394934.1_In_Frame_Del_p.NK334del	p.NK332del			P07602	SAP_HUMAN			9	1143_1145	-			332			Saposin B-type 3.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	In_Frame_Del	DEL	ENST00000394936.3	37	c.996_998delCAA	CCDS7311.1																																																																																				0.557	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		11	178						11	178	---	---	---	---
ARMS2	387715	broad.mit.edu	37	10	124214434	124214435	+	In_Frame_Ins	INS	-	-	CAT			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124214434_124214435insCAT	ENST00000528446.1	+	1	266_267	c.191_192insCAT	c.(190-195)tccatg>tcCATcatg	p.64_65SM>SIM		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	64					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTATCACACTCCATGATCCCAG	0.54																																						ENST00000528446.1																			0				ovary(1)	1						c.(190-192)tat>tCATat		age-related maculopathy susceptibility 2																																				SO:0001652	inframe_insertion	387715				retina homeostasis	mitochondrion|photoreceptor inner segment		g.chr10:124214434_124214435insCAT	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.192_194dupCAT	10.37:g.124214435_124214437dupCAT	ENSP00000436682:p.Ser64_Met65insIle						p.64_65insS	NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN			1	266_267	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	64					B2Y7I5	In_Frame_Ins	INS	ENST00000528446.1	37	c.191_192insCAT	CCDS53585.1																																																																																				0.540	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			84	97						84	97	---	---	---	---
RP11-509A17.3	0	broad.mit.edu	37	15	20563423	20563423	+	lincRNA	DEL	C	C	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:20563423delC	ENST00000557528.1	+	0	1812				AC026495.1_ENST00000581090.1_RNA																							cccttcctctcccttcctctc	0.672																																						ENST00000581090.1																			0																																																			0							g.chr15:20563423delC																													15.37:g.20563423delC														0	63	+									RNA	DEL	ENST00000557528.1	37																																																																																						0.672	RP11-509A17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414658.1			5	2						5	2	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56387780	56387780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:56387780delT	ENST00000559447.2	-	9	2126	c.1855delA	c.(1855-1857)agcfs	p.S619fs	RFX7_ENST00000423270.1_Frame_Shift_Del_p.S716fs|RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	619					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATACCTTGCTAGGAATCTGA	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2146-2148)gcfs		regulatory factor X, 7							115.0	105.0	108.0					15																	56387780		1929	4133	6062	SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387780delT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1855delA	15.37:g.56387780delT	ENSP00000453281:p.Ser619fs					RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs|RFX7_ENST00000559447.2_Frame_Shift_Del_p.S619fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs	p.S716fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2145	-			619					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Del	DEL	ENST00000559447.2	37	c.2146delA																																																																																					0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		34	119						34	119	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57523426	57523427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:57523426_57523427insT	ENST00000267811.5	+	9	960_961	c.656_657insT	c.(655-660)agtatgfs	p.M220fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V30fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.M216fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.M220fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	220					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCACCAACCAGTATGTTCGCTA	0.366			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(655-657)aatfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57523426_57523427insT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.657dupT	15.37:g.57523427_57523427dupT	ENSP00000267811:p.Met220fs					TCF12_ENST00000543579.1_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.N215fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.M30fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.N219fs	p.N219fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	960_961	+		Colorectal(260;0.0907)	219					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.656_657insT	CCDS10159.1																																																																																				0.366	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		45	233						45	233	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			2	4						2	4	---	---	---	---
