#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
APOBEC1	339	broad.mit.edu	37	12	7805211	7805211	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:7805211A>G	ENST00000229304.4	-	3	285	c.265T>C	c.(265-267)Tcc>Ccc	p.S89P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	89					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGACTCCAGGACAAGAACCAG	0.458																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(265-267)Tcc>Ccc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							48.0	48.0	48.0					12																	7805211		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805211A>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.265T>C	12.37:g.7805211A>G	ENSP00000229304:p.Ser89Pro						p.S89P	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	285	-			89					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.265T>C	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.766920	0.69878	.	.	ENSG00000111701	ENST00000229304	T	0.69806	-0.43	3.95	3.95	0.45737	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.000000	0.56097	D	0.000040	T	0.79845	0.4516	M	0.92026	3.265	0.32719	N	0.510619	D	0.52996	0.957	P	0.55785	0.784	D	0.86308	0.1684	10	0.87932	D	0	-31.1576	9.4165	0.38525	1.0:0.0:0.0:0.0	.	89	P41238	ABEC1_HUMAN	P	89	ENSP00000229304:S89P	ENSP00000229304:S89P	S	-	1	0	APOBEC1	7696478	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.796000	0.47869	1.805000	0.52779	0.379000	0.24179	TCC		0.458	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		5	27	0	0	0	1	0	5	27				
MUC7	4589	broad.mit.edu	37	4	71346917	71346917	+	Silent	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:71346917T>A	ENST00000304887.5	+	3	646	c.456T>A	c.(454-456)gcT>gcA	p.A152A	MUC7_ENST00000413702.1_Silent_p.A152A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.A152A	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	152	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCTGTAGCTACATTAGCAC	0.483																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(454-456)gcT>gcA		mucin 7, secreted							249.0	222.0	231.0					4																	71346917		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346917T>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.456T>A	4.37:g.71346917T>A						MUC7_ENST00000456088.1_Silent_p.A152A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Silent_p.A152A	p.A152A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	744	+			152			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.456T>A	CCDS3541.1																																																																																				0.483	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	80	0	0	0	1	0	4	80				
HCN1	348980	broad.mit.edu	37	5	45267208	45267208	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:45267208T>C	ENST00000303230.4	-	7	1823	c.1766A>G	c.(1765-1767)gAc>gGc	p.D589G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	589					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTAGTCGGTCAATGGCAAC	0.388																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1765-1767)gAc>gGc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							162.0	149.0	153.0					5																	45267208		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267208T>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1766A>G	5.37:g.45267208T>C	ENSP00000307342:p.Asp589Gly						p.D589G	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1823	-			589						Missense_Mutation	SNP	ENST00000303230.4	37	c.1766A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872717	0.91587	.	.	ENSG00000164588	ENST00000303230	T	0.57436	0.4	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.67832	0.2935	M	0.72894	2.215	0.80722	D	1	B	0.31769	0.339	P	0.47891	0.56	T	0.69723	-0.5068	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	589	O60741	HCN1_HUMAN	G	589	ENSP00000307342:D589G	ENSP00000307342:D589G	D	-	2	0	HCN1	45302965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	GAC		0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	100	0	0	0	1	0	8	100				
AFF2	2334	broad.mit.edu	37	X	147733566	147733566	+	Silent	SNP	C	C	A	rs143135907		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:147733566C>A	ENST00000370460.2	+	2	573	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	AFF2_ENST00000342251.3_Silent_p.R32R|AFF2_ENST00000370457.5_Silent_p.R32R|AFF2_ENST00000370458.1_Silent_p.R32R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	32					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R32W(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGGAGCGGAGGAATCA	0.368																																						ENST00000370460.2																			2	Substitution - Missense(2)	p.R32W(2)	breast(2)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(94-96)Cgg>Agg		AF4/FMR2 family, member 2							192.0	184.0	187.0					X																	147733566		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733566C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.94C>A	X.37:g.147733566C>A						AFF2_ENST00000342251.3_Silent_p.R32R|AFF2_ENST00000370457.5_Silent_p.R32R|AFF2_ENST00000370458.1_Silent_p.R32R	p.R32R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	573	+	Acute lymphoblastic leukemia(192;6.56e-05)		32					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.94C>A	CCDS14684.1																																																																																				0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		32	30	1	0	4.39465e-27	1	5.27358e-27	32	30				
INTS5	80789	broad.mit.edu	37	11	62414553	62414553	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:62414553C>G	ENST00000330574.2	-	2	3051	c.2999G>C	c.(2998-3000)gGt>gCt	p.G1000A	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1000					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGAAAAGACCTAGGCGGTC	0.602																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2998-3000)gGt>gCt		integrator complex subunit 5							99.0	84.0	89.0					11																	62414553		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414553C>G	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2999G>C	11.37:g.62414553C>G	ENSP00000327889:p.Gly1000Ala						p.G1000A	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	3051	-			1000					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2999G>C	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623190	0.66901	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.67397	2.05	0.44719	D	0.997717	D	0.76494	0.999	D	0.85130	0.997	T	0.79230	-0.1889	9	0.87932	D	0	-12.1155	13.1348	0.59403	0.0:0.9227:0.0:0.0773	.	1000	Q6P9B9	INT5_HUMAN	A	1000	.	ENSP00000327889:G1000A	G	-	2	0	INTS5	62171129	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.041000	0.76558	1.527000	0.49086	-0.157000	0.13467	GGT		0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		9	52	0	0	0	1	0	9	52				
SNX8	29886	broad.mit.edu	37	7	2297433	2297433	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:2297433C>A	ENST00000222990.3	-	8	963	c.921G>T	c.(919-921)aaG>aaT	p.K307N		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	307					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCTCTTCCTGCTTACCCTGGA	0.612																																						ENST00000222990.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26						c.(919-921)aaG>aaT		sorting nexin 8							252.0	232.0	239.0					7																	2297433		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297433C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.921G>T	7.37:g.2297433C>A	ENSP00000222990:p.Lys307Asn						p.K307N	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	8	963	-		Ovarian(82;0.11)	307					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.921G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	9.121	1.009039	0.19199	.	.	ENSG00000106266	ENST00000222990	T	0.22539	1.95	5.32	0.404	0.16355	.	0.228456	0.44483	D	0.000441	T	0.12518	0.0304	N	0.25647	0.755	0.35084	D	0.763642	B	0.25007	0.116	B	0.22601	0.04	T	0.14587	-1.0467	10	0.38643	T	0.18	.	8.5897	0.33679	0.0:0.3154:0.0:0.6846	.	307	Q9Y5X2	SNX8_HUMAN	N	307	ENSP00000222990:K307N	ENSP00000222990:K307N	K	-	3	2	SNX8	2263959	0.998000	0.40836	0.807000	0.32361	0.532000	0.34746	0.431000	0.21444	-0.166000	0.10890	-0.312000	0.09012	AAG		0.612	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			35	137	1	0	6.29468e-14	1	7.43917e-14	35	137				
KRT75	9119	broad.mit.edu	37	12	52827742	52827742	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:52827742C>A	ENST00000252245.5	-	1	567	c.347G>T	c.(346-348)tGt>tTt	p.C116F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	116	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCAGGGGGACACACGGGGAA	0.612																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(346-348)tGt>tTt		keratin 75							116.0	119.0	118.0					12																	52827742		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827742C>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.347G>T	12.37:g.52827742C>A	ENSP00000252245:p.Cys116Phe						p.C116F	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	567	-			116			Gly-rich.|Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.347G>T	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018623	0.07959	.	.	ENSG00000170454	ENST00000252245	T	0.75050	-0.9	5.55	2.7	0.31948	.	0.216427	0.32548	N	0.005952	T	0.69744	0.3145	M	0.69248	2.105	0.09310	N	1	P	0.42483	0.781	B	0.43155	0.41	T	0.63292	-0.6670	10	0.59425	D	0.04	.	4.6034	0.12364	0.1261:0.6125:0.1221:0.1393	.	116	O95678	K2C75_HUMAN	F	116	ENSP00000252245:C116F	ENSP00000252245:C116F	C	-	2	0	KRT75	51114009	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.222000	0.09190	0.285000	0.22329	0.655000	0.94253	TGT		0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		8	49	1	0	0.00448238	1	0.00466168	8	49				
SLC25A6	293	broad.mit.edu	37	X	1508390	1508390	+	Silent	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508390C>G	ENST00000381401.5	-	2	1056	c.342G>C	c.(340-342)gcG>gcC	p.A114A	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	114					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCAGGTTGCCCGCAAAGTACC	0.622																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(340-342)gcG>gcC		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						165.0	167.0	166.0					X																	1508390		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508390C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.342G>C	X.37:g.1508390C>G						SLC25A6_ENST00000475167.1_5'UTR	p.A114A	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1056	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	114					Q96C49	Silent	SNP	ENST00000381401.5	37	c.342G>C	CCDS14114.1																																																																																				0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		32	101	0	0	0	1	0	32	101				
CTSG	1511	broad.mit.edu	37	14	25043530	25043530	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:25043530C>T	ENST00000216336.2	-	4	551	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GATGCGGAGGCACTGCCTATC	0.627																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(514-516)tGc>tAc		cathepsin G							121.0	99.0	106.0					14																	25043530		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043530C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.515G>A	14.37:g.25043530C>T	ENSP00000216336:p.Cys172Tyr						p.C172Y	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	551	-			172			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.515G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580946	0.65992	.	.	ENSG00000100448	ENST00000216336	D	0.96992	-4.2	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41605	D	0.000858	D	0.98798	0.9595	H	0.97340	3.985	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	D	0.99091	1.0840	10	0.87932	D	0	.	14.8308	0.70146	0.0:1.0:0.0:0.0	.	172	P08311	CATG_HUMAN	Y	172	ENSP00000216336:C172Y	ENSP00000216336:C172Y	C	-	2	0	CTSG	24113370	0.965000	0.33210	0.374000	0.26016	0.003000	0.03518	3.964000	0.56780	2.780000	0.95670	0.655000	0.94253	TGC		0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		13	31	0	0	0	1	0	13	31				
SEC24C	9632	broad.mit.edu	37	10	75530047	75530047	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:75530047C>T	ENST00000339365.2	+	22	3034	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	SEC24C_ENST00000535742.1_Missense_Mutation_p.P206S|SEC24C_ENST00000540668.1_Missense_Mutation_p.P206S|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.P839S|SEC24C_ENST00000345254.4_Missense_Mutation_p.P958S|FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	958					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GACAAAGTCTCCCGTTGAGAG	0.478																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2872-2874)Ccc>Tcc		SEC24 family member C							170.0	173.0	172.0					10																	75530047		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530047C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2872C>T	10.37:g.75530047C>T	ENSP00000343405:p.Pro958Ser					SEC24C_ENST00000411652.2_Missense_Mutation_p.P839S|SEC24C_ENST00000345254.4_Missense_Mutation_p.P958S|SEC24C_ENST00000540668.1_Missense_Mutation_p.P206S|SEC24C_ENST00000535742.1_Missense_Mutation_p.P206S|SEC24C_ENST00000496827.1_3'UTR	p.P958S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3034	+	Prostate(51;0.0112)		958					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2872C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	5.622	0.299443	0.10622	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.91	4.07	0.47477	.	0.209234	0.46758	D	0.000265	T	0.15176	0.0366	N	0.16201	0.385	0.31958	N	0.608771	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17289	-1.0374	10	0.13470	T	0.59	-6.8525	8.1259	0.30999	0.0:0.6803:0.1693:0.1504	.	839;958	E7EP00;P53992	.;SC24C_HUMAN	S	206;958;206;958;839	ENSP00000446174:P206S;ENSP00000321845:P958S;ENSP00000445023:P206S;ENSP00000343405:P958S;ENSP00000402913:P839S	ENSP00000343405:P958S	P	+	1	0	SEC24C	75200053	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.504000	0.35726	1.503000	0.48686	0.655000	0.94253	CCC		0.478	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			39	157	0	0	0	1	0	39	157				
DDX58	23586	broad.mit.edu	37	9	32457378	32457378	+	Silent	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:32457378T>C	ENST00000379883.2	-	18	2677	c.2520A>G	c.(2518-2520)gaA>gaG	p.E840E	DDX58_ENST00000379868.1_Silent_p.E637E|DDX58_ENST00000542096.1_Silent_p.E769E|DDX58_ENST00000379882.1_Silent_p.E795E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	840	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCACAAAGCATTCCTTAAAAG	0.418																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2383-2385)gaA>gaG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							66.0	62.0	63.0					9																	32457378		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457378T>C	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2520A>G	9.37:g.32457378T>C						DDX58_ENST00000379883.2_Silent_p.E840E|DDX58_ENST00000379868.1_Silent_p.E637E|DDX58_ENST00000542096.1_Silent_p.E769E	p.E795E			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2542	-			840			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.2385A>G	CCDS6526.1																																																																																				0.418	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		4	45	0	0	0	1	0	4	45				
ZCWPW1	55063	broad.mit.edu	37	7	99998887	99998887	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:99998887C>T	ENST00000398027.2	-	18	1944	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E496K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R395K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R395K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	566							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCACTGTTCTAACTTCTTT	0.532																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1696-1698)aGa>aAa		zinc finger, CW type with PWWP domain 1							55.0	53.0	54.0					7																	99998887		1873	4096	5969	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998887C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1697G>A	7.37:g.99998887C>T	ENSP00000381109:p.Arg566Lys					ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R395K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E496K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R395K	p.R566K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	1944	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		566					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1697G>A	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.037593|2.037593	0.35989|0.35989	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000360951;ENST00000471336|ENST00000398027;ENST00000490721;ENST00000324725	T;T|T;T;T	0.58060|0.44482	0.81;0.36|0.96;0.92;0.92	5.22|5.22	-0.82|-0.82	0.10826|0.10826	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	B|B;B;B	0.11235|0.21753	0.004|0.029;0.06;0.023	B|B;B;B	0.08055|0.18263	0.003|0.008;0.021;0.008	T|T	0.20042|0.20042	-1.0287|-1.0287	8|8	.|.	.|.	.|.	-0.9269|-0.9269	0.9296|0.9296	0.01332|0.01332	0.1563:0.3441:0.1522:0.3475|0.1563:0.3441:0.1522:0.3475	.|.	496|527;566;395	B4DUQ2|B4DXS7;Q9H0M4;Q9H0M4-4	.|.;ZCPW1_HUMAN;.	K|K	496;218|566;395;395	ENSP00000354210:E496K;ENSP00000418351:E218K|ENSP00000381109:R566K;ENSP00000419187:R395K;ENSP00000314880:R395K	.|.	E|R	-|-	1|2	0|0	ZCWPW1|ZCWPW1	99836823|99836823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.890000|-0.890000	0.04140|0.04140	-0.048000|-0.048000	0.13401|0.13401	-0.122000|-0.122000	0.15005|0.15005	GAA|AGA		0.532	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		15	55	0	0	0	1	0	15	55				
BACE2	25825	broad.mit.edu	37	21	42613819	42613819	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:42613819A>G	ENST00000330333.6	+	4	1155	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	BACE2_ENST00000328735.6_Missense_Mutation_p.Q231R|BACE2_ENST00000347667.5_Missense_Mutation_p.Q231R|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	231					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTCTCCATGCAGATGTGTGGA	0.537																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(691-693)cAg>cGg		beta-site APP-cleaving enzyme 2							172.0	175.0	174.0					21																	42613819		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613819A>G	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.692A>G	21.37:g.42613819A>G	ENSP00000332979:p.Gln231Arg					BACE2_ENST00000328735.6_Missense_Mutation_p.Q231R|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Q231R	p.Q231R	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			4	1155	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	231					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.692A>G	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.983419	0.93044	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.57595	0.39;0.39;0.39	5.53	5.53	0.82687	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.56124	1.755	0.80722	D	1	D;D;D	0.71674	0.991;0.997;0.998	D;D;D	0.97110	0.995;0.99;1.0	T	0.70085	-0.4969	10	0.59425	D	0.04	.	14.8727	0.70471	1.0:0.0:0.0:0.0	.	231;231;231	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	R	231;231;231;136	ENSP00000332979:Q231R;ENSP00000327528:Q231R;ENSP00000333854:Q231R	ENSP00000333854:Q231R	Q	+	2	0	BACE2	41535689	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.381000	0.90152	2.107000	0.64212	0.533000	0.62120	CAG		0.537	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			31	111	0	0	0	1	0	31	111				
CTPS1	1503	broad.mit.edu	37	1	41466743	41466743	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:41466743G>C	ENST00000372621.4	+	10	1556	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	CTPS1_ENST00000372616.1_Missense_Mutation_p.E350Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.E119Q	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTCGCAAGAAGAGCCCGTGCG	0.517																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1048-1050)Gag>Cag		CTP synthase 1	L-Glutamine(DB00130)						70.0	66.0	67.0					1																	41466743		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466743G>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1048G>C	1.37:g.41466743G>C	ENSP00000361704:p.Glu350Gln					CTPS1_ENST00000541520.1_Missense_Mutation_p.E119Q|CTPS1_ENST00000372616.1_Missense_Mutation_p.E350Q	p.E350Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1556	+			350			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1048G>C	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513069	0.44660	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.46063	0.9;0.88;0.9	5.86	5.86	0.93980	Glutamine amidotransferase type 1 (2);	0.180308	0.64402	D	0.000016	T	0.40839	0.1133	L	0.41906	1.305	0.80722	D	1	B;B	0.18166	0.008;0.026	B;B	0.26416	0.069;0.056	T	0.11446	-1.0587	10	0.39692	T	0.17	.	18.7657	0.91871	0.0:0.0:1.0:0.0	.	119;350	B4DR64;P17812	.;PYRG1_HUMAN	Q	350;119;350	ENSP00000361704:E350Q;ENSP00000442646:E119Q;ENSP00000361699:E350Q	ENSP00000361699:E350Q	E	+	1	0	CTPS	41239330	1.000000	0.71417	0.858000	0.33744	0.015000	0.08874	9.437000	0.97535	2.776000	0.95493	0.655000	0.94253	GAG		0.517	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		7	16	0	0	0	1	0	7	16				
AGO2	27161	broad.mit.edu	37	8	141570542	141570542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:141570542G>A	ENST00000220592.5	-	5	698	c.586C>T	c.(586-588)Cga>Tga	p.R196*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.R196*	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	196					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CACACTTCTCGGCCCCCGCCA	0.612																																						ENST00000220592.5																			0											c.(586-588)Cga>Tga		argonaute RISC catalytic component 2							72.0	72.0	72.0					8																	141570542		2203	4300	6503	SO:0001587	stop_gained	27161							g.chr8:141570542G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.586C>T	8.37:g.141570542G>A	ENSP00000220592:p.Arg196*					AGO2_ENST00000519980.1_Nonsense_Mutation_p.R196*	p.R196*	NM_012154.3	NP_036286.2					5	698	-								Q8TCZ5|Q8WV58|Q96ID1	Nonsense_Mutation	SNP	ENST00000220592.5	37	c.586C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749432	0.96882	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.02	1.54	0.23209	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.4492	7.043	0.25031	0.094:0.0:0.32:0.586	.	.	.	.	X	196	.	ENSP00000220592:R196X	R	-	1	2	EIF2C2	141639724	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.028000	0.49705	0.577000	0.29470	0.655000	0.94253	CGA		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	83	0	0	0	1	0	11	83				
SPATA31C1	441452	broad.mit.edu	37	9	90535736	90535736	+	RNA	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:90535736T>A	ENST00000602681.1	+	0	1640							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGTGCATCTTCAACTCGTCA	0.577																																						ENST00000602681.1																			0																				125.0	110.0	114.0					9																	90535736		692	1591	2283			0							g.chr9:90535736T>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535736T>A														0	1640	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.577	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		36	93	0	0	0	1	0	36	93				
CCDC80	151887	broad.mit.edu	37	3	112357581	112357581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:112357581G>T	ENST00000206423.3	-	2	2125	c.1172C>A	c.(1171-1173)tCa>tAa	p.S391*	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S391*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	391	Thr-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTGGGAGGGTGAGGGGGTCCA	0.602																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1171-1173)tCa>tAa		coiled-coil domain containing 80							57.0	56.0	56.0					3																	112357581		2203	4300	6503	SO:0001587	stop_gained	151887							g.chr3:112357581G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1172C>A	3.37:g.112357581G>T	ENSP00000206423:p.Ser391*					CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S391*	p.S391*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2125	-			391			Thr-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	c.1172C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	43	10.062193	0.99327	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	.	.	.	4.88	2.82	0.32997	.	1.063170	0.07329	N	0.878889	.	.	.	.	.	.	0.22771	N	0.99875	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.3903	8.5808	0.33628	0.2144:0.0:0.7856:0.0	.	.	.	.	X	391	.	ENSP00000206423:S391X	S	-	2	0	CCDC80	113840271	0.253000	0.23982	0.001000	0.08648	0.193000	0.23685	1.353000	0.34045	0.480000	0.27534	0.555000	0.69702	TCA		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	33	1	0	0.150653	1	0.15261	4	33				
IGKC	3514	broad.mit.edu	37	2	89156907	89156907	+	RNA	SNP	G	G	A	rs376116848		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr2:89156907G>A	ENST00000390237.2	-	0	289				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TCTTTGTGACGGGCGAGCTCA	0.592																																						ENST00000452230.1																			0															A		1,4097		0,1,2048	81.0	80.0	80.0			2.3	0.0	2		80	0,8356		0,0,4178	no	intergenic				0,1,6226	AA,AG,GG		0.0,0.0244,0.0080			89156907	1,12453	2049	4178	6227			0							g.chr2:89156907G>A	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156907G>A						IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.592	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		14	41	0	0	0	1	0	14	41				
PHKA2	5256	broad.mit.edu	37	X	18912456	18912456	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:18912456C>T	ENST00000379942.4	-	32	4068	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1135					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCGGTACTCGGGCTGCGGC	0.602																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3403-3405)Gag>Aag		phosphorylase kinase, alpha 2 (liver)							84.0	65.0	71.0					X																	18912456		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18912456C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3403G>A	X.37:g.18912456C>T	ENSP00000369274:p.Glu1135Lys					PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.E1135K	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			32	4068	-	Hepatocellular(33;0.183)		1135					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3403G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606203	0.96626	.	.	ENSG00000044446	ENST00000379942	D	0.94184	-3.37	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.97520	1.0072	10	0.87932	D	0	-26.0905	18.2057	0.89853	0.0:1.0:0.0:0.0	.	1135	P46019	KPB2_HUMAN	K	1135	ENSP00000369274:E1135K	ENSP00000369274:E1135K	E	-	1	0	PHKA2	18822377	1.000000	0.71417	0.934000	0.37439	0.720000	0.41350	7.731000	0.84895	2.236000	0.73375	0.529000	0.55759	GAG		0.602	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		3	32	0	0	0	1	0	3	32				
ITGAL	3683	broad.mit.edu	37	16	30516582	30516582	+	Silent	SNP	G	G	A	rs573022300		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr16:30516582G>A	ENST00000356798.6	+	19	2433	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P	ITGAL_ENST00000358164.5_Silent_p.P667P|MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	751					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGGACATACCGCCCATCCTGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19448	0.001		0.0	False		,,,				2504	0.0				NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2251-2253)ccG>ccA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						86.0	73.0	77.0					16																	30516582		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30516582G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2253G>A	16.37:g.30516582G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P667P	p.P751P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			19	2433	+			751					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2253G>A	CCDS32433.1																																																																																				0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	26	0	0	0	1	0	7	26				
ABCD2	225	broad.mit.edu	37	12	40012694	40012694	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:40012694G>T	ENST00000308666.3	-	1	859	c.724C>A	c.(724-726)Ctc>Atc	p.L242I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	242	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTTTGAATGAGTGTATAGGAG	0.443																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(724-726)Ctc>Atc		ATP-binding cassette, sub-family D (ALD), member 2							126.0	123.0	124.0					12																	40012694		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012694G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.724C>A	12.37:g.40012694G>T	ENSP00000310688:p.Leu242Ile						p.L242I	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	859	-			242			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.724C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645664	0.67358	.	.	ENSG00000173208	ENST00000308666	D	0.99859	-7.23	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	H	0.94183	3.505	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	D	0.96516	0.9382	9	.	.	.	-0.7966	11.6865	0.51490	0.0814:0.0:0.9186:0.0	.	242	Q9UBJ2	ABCD2_HUMAN	I	242	ENSP00000310688:L242I	.	L	-	1	0	ABCD2	38298961	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	6.243000	0.72384	2.280000	0.76307	0.557000	0.71058	CTC		0.443	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		17	65	1	0	4.14922e-12	1	4.7594e-12	17	65				
AMOT	154796	broad.mit.edu	37	X	112024248	112024248	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:112024248G>A	ENST00000524145.1	-	10	2413	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	AMOT_ENST00000371962.1_Missense_Mutation_p.S548L|AMOT_ENST00000304758.1_Missense_Mutation_p.S371L|AMOT_ENST00000371959.3_Missense_Mutation_p.S780L|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371958.1_Missense_Mutation_p.S548L			Q4VCS5	AMOT_HUMAN	angiomotin	780					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCGCATGCACGACAGCTGCTC	0.542																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2338-2340)tCg>tTg		angiomotin							210.0	192.0	198.0					X																	112024248		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112024248G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2339C>T	X.37:g.112024248G>A	ENSP00000429013:p.Ser780Leu					AMOT_ENST00000371962.1_Missense_Mutation_p.S548L|AMOT_ENST00000371958.1_Missense_Mutation_p.S548L|AMOT_ENST00000304758.1_Missense_Mutation_p.S371L|AMOT_ENST00000524145.1_Missense_Mutation_p.S780L	p.S780L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			9	2338	-			780					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2339C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084750	0.94100	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	T;T;T;T;T	0.38887	1.11;1.98;2.24;1.98;1.73	5.69	5.69	0.88448	Angiomotin, C-terminal (1);	0.123171	0.56097	D	0.000025	T	0.42787	0.1218	L	0.55990	1.75	0.50813	D	0.99989	D	0.53151	0.958	B	0.41917	0.37	T	0.40175	-0.9577	10	0.44086	T	0.13	-10.5099	17.6377	0.88128	0.0:0.0:1.0:0.0	.	780	Q4VCS5	AMOT_HUMAN	L	371;780;548;780;20;548	ENSP00000305557:S371L;ENSP00000361027:S780L;ENSP00000361030:S548L;ENSP00000429013:S780L;ENSP00000361026:S548L	ENSP00000305557:S371L	S	-	2	0	AMOT	111910904	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.593000	0.98250	2.381000	0.81170	0.600000	0.82982	TCG		0.542	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		5	94	0	0	0	1	0	5	94				
MTDH	92140	broad.mit.edu	37	8	98736848	98736848	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:98736848G>C	ENST00000336273.3	+	12	2027	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	MTDH_ENST00000519934.1_Missense_Mutation_p.E511Q	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	567					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AACTAGCTGGGAATCTCCCAA	0.338																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1699-1701)Gaa>Caa		metadherin							99.0	100.0	99.0					8																	98736848		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98736848G>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1699G>C	8.37:g.98736848G>C	ENSP00000338235:p.Glu567Gln					MTDH_ENST00000519934.1_Missense_Mutation_p.E511Q	p.E567Q	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		12	2027	+	Breast(36;2.56e-06)		567					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1699G>C	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101843	0.56183	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.53640	0.61;0.61	5.64	5.64	0.86602	.	0.055748	0.64402	D	0.000001	T	0.64316	0.2587	L	0.46157	1.445	0.50467	D	0.99987	D	0.89917	1.0	D	0.85130	0.997	T	0.65487	-0.6156	10	0.87932	D	0	-13.6384	17.8745	0.88821	0.0:0.0:1.0:0.0	.	567	Q86UE4	LYRIC_HUMAN	Q	567;511	ENSP00000338235:E567Q;ENSP00000428168:E511Q	ENSP00000338235:E567Q	E	+	1	0	MTDH	98806024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.761000	0.74945	2.660000	0.90430	0.655000	0.94253	GAA		0.338	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			14	79	0	0	0	1	0	14	79				
C20orf85	128602	broad.mit.edu	37	20	56735827	56735827	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:56735827C>T	ENST00000371168.3	+	4	424	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	121										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TCAGAAGCTGCAAAGGTGCTT	0.612																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(361-363)tgC>tgT		chromosome 20 open reading frame 85							67.0	53.0	58.0					20																	56735827		2203	4300	6503	SO:0001819	synonymous_variant	128602							g.chr20:56735827C>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.363C>T	20.37:g.56735827C>T							p.C121C	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	424	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		121						Silent	SNP	ENST00000371168.3	37	c.363C>T	CCDS13465.1																																																																																				0.612	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		9	14	0	0	0	1	0	9	14				
TAX1BP1	8887	broad.mit.edu	37	7	27831673	27831673	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:27831673G>C	ENST00000396319.2	+	9	1175	c.1087G>C	c.(1087-1089)Gtt>Ctt	p.V363L	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V206L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V363L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V363L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	363	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGAGGAACAGGTTCAGGCAAC	0.408																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1087-1089)Gtt>Ctt		Tax1 (human T-cell leukemia virus type I) binding protein 1							102.0	95.0	97.0					7																	27831673		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27831673G>C	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1087G>C	7.37:g.27831673G>C	ENSP00000379612:p.Val363Leu					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V363L|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V206L	p.V363L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		9	1175	+			363			Oligomerization.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1087G>C	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	5.545	0.285486	0.10513	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.75	3.84	0.44239	.	0.273464	0.25628	N	0.029368	T	0.02047	0.0064	N	0.02708	-0.52	0.28997	N	0.887684	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.19148	0.024;0.002;0.002	T	0.43972	-0.9358	10	0.02654	T	1	-9.578	4.7056	0.12848	0.3109:0.1538:0.5353:0.0	.	206;363;363	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	L	363;363;363;206;363	ENSP00000444811:V363L;ENSP00000265393:V363L;ENSP00000386515:V363L;ENSP00000391907:V206L;ENSP00000379612:V363L	ENSP00000265393:V363L	V	+	1	0	TAX1BP1	27798198	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.894000	0.39768	0.795000	0.33922	0.650000	0.86243	GTT		0.408	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		3	63	0	0	0	1	0	3	63				
BMS1P20	96610	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1				BMS1 pseudogene 20																		GATAAGCTGCTGATGAGCGGT	0.532																																						ENST00000426066.1																			0																																																			0							g.chr22:22664240T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664240T>G								NR_027293.1						0	763	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	44	0	0	0	1	0	3	44				
RARG	5916	broad.mit.edu	37	12	53608330	53608330	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:53608330C>T	ENST00000425354.2	-	6	1023	c.536G>A	c.(535-537)aGc>aAc	p.S179N	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.S157N|RARG_ENST00000327550.3_Missense_Mutation_p.S107N|RARG_ENST00000394426.1_Missense_Mutation_p.S179N|RARG_ENST00000338561.5_Missense_Mutation_p.S168N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	179	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCTCATAGCTGTCAGGTGA	0.552																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(535-537)aGc>aAc		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						183.0	161.0	169.0					12																	53608330		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53608330C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.536G>A	12.37:g.53608330C>T	ENSP00000388510:p.Ser179Asn					RARG_ENST00000338561.5_Missense_Mutation_p.S168N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.S157N|RARG_ENST00000394426.1_Missense_Mutation_p.S179N|RARG_ENST00000327550.3_Missense_Mutation_p.S107N	p.S179N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			6	1023	-			179			Hinge.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.536G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688900	0.48097	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.97	4.07	0.47477	Nuclear hormone receptor, ligand-binding (2);	0.039807	0.85682	N	0.000000	T	0.33411	0.0862	L	0.50333	1.59	0.58432	D	0.999999	B;B;B;B	0.26400	0.148;0.001;0.016;0.01	B;B;B;B	0.25614	0.062;0.004;0.006;0.013	T	0.16541	-1.0399	10	0.46703	T	0.11	.	13.0774	0.59095	0.0:0.9196:0.0:0.0804	.	216;157;179;168	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	N	179;179;107;168;157;216	ENSP00000388510:S179N;ENSP00000377947:S179N;ENSP00000332695:S107N;ENSP00000343698:S168N;ENSP00000444335:S157N	ENSP00000332695:S107N	S	-	2	0	RARG	51894597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.533000	0.45667	1.440000	0.47531	0.655000	0.94253	AGC		0.552	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		3	37	0	0	0	1	0	3	37				
SLC25A6	293	broad.mit.edu	37	X	1508388	1508388	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508388C>A	ENST00000381401.5	-	2	1058	c.344G>T	c.(343-345)gGc>gTc	p.G115V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	115					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGCCAGGTTGCCCGCAAAGTA	0.622																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(343-345)gGc>gTc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						163.0	165.0	165.0					X																	1508388		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508388C>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.344G>T	X.37:g.1508388C>A	ENSP00000370808:p.Gly115Val					SLC25A6_ENST00000475167.1_5'UTR	p.G115V	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1058	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	115					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.344G>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196215	0.58126	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.78481	-1.18	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000026	T	0.74397	0.3711	N	0.20807	0.61	0.24886	N	0.992195	D	0.58268	0.982	P	0.59171	0.853	T	0.67511	-0.5652	10	0.51188	T	0.08	.	12.0543	0.53524	0.0:1.0:0.0:0.0	.	115	P12236	ADT3_HUMAN	V	115	ENSP00000370808:G115V	ENSP00000370808:G115V	G	-	2	0	SLC25A6	1468388	1.000000	0.71417	0.780000	0.31762	0.649000	0.38597	5.896000	0.69822	0.982000	0.38575	0.402000	0.26972	GGC		0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		32	102	1	0	2.68265e-12	1	3.12309e-12	32	102				
CYBB	1536	broad.mit.edu	37	X	37641374	37641374	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:37641374G>C	ENST00000378588.4	+	2	146	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	27					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTTCCTCTTTGTCTGGTATTA	0.413																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(79-81)Gtc>Ctc		cytochrome b-245, beta polypeptide							207.0	166.0	180.0					X																	37641374		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37641374G>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.79G>C	X.37:g.37641374G>C	ENSP00000367851:p.Val27Leu					CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	p.V27L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			2	146	+			27					A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.79G>C	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261482	0.23051	.	.	ENSG00000165168	ENST00000378588	D	0.95238	-3.65	5.95	3.23	0.37069	.	0.469052	0.23610	N	0.046355	D	0.89798	0.6819	L	0.53249	1.67	0.53005	D	0.999967	B	0.06786	0.001	B	0.08055	0.003	T	0.79711	-0.1689	10	0.22706	T	0.39	.	4.2892	0.10870	0.238:0.0:0.5175:0.2445	.	27	P04839	CY24B_HUMAN	L	27	ENSP00000367851:V27L	ENSP00000367851:V27L	V	+	1	0	CYBB	37526318	1.000000	0.71417	0.761000	0.31378	0.636000	0.38137	0.947000	0.29082	0.248000	0.21435	0.600000	0.82982	GTC		0.413	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			4	39	0	0	0	1	0	4	39				
HMCN1	83872	broad.mit.edu	37	1	186017954	186017954	+	Missense_Mutation	SNP	A	A	G	rs138702288		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:186017954A>G	ENST00000271588.4	+	42	6789	c.6560A>G	c.(6559-6561)tAc>tGc	p.Y2187C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2187C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2187	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAAAACTACAATGTCAAC	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6559-6561)tAc>tGc		hemicentin 1							92.0	94.0	93.0					1																	186017954		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017954A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6560A>G	1.37:g.186017954A>G	ENSP00000271588:p.Tyr2187Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2187C	p.Y2187C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			42	6789	+			2187			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6560A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027116	0.54683	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055731	0.85682	D	0.000000	T	0.73473	0.3591	L	0.42686	1.345	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.72381	-0.4311	10	0.38643	T	0.18	.	10.6852	0.45839	0.8574:0.0:0.0:0.1426	.	2187	Q96RW7	HMCN1_HUMAN	C	2187	ENSP00000271588:Y2187C;ENSP00000356462:Y2187C	ENSP00000271588:Y2187C	Y	+	2	0	HMCN1	184284577	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	5.747000	0.68689	2.106000	0.64143	0.455000	0.32223	TAC		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	60	0	0	0	1	0	7	60				
WDR20	91833	broad.mit.edu	37	14	102675209	102675209	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:102675209C>T	ENST00000342702.3	+	3	733	c.702C>T	c.(700-702)ttC>ttT	p.F234F	WDR20_ENST00000335263.5_Silent_p.F234F|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.F173F|WDR20_ENST00000556511.2_Silent_p.F173F|WDR20_ENST00000454394.2_Silent_p.F265F|WDR20_ENST00000424963.2_Silent_p.F110F|WDR20_ENST00000545563.1_Silent_p.F61F	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	234										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATGGCAAGTTCTTAGCGTGCG	0.557																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(700-702)ttC>ttT		WD repeat domain 20							71.0	68.0	69.0					14																	102675209		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102675209C>T	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.702C>T	14.37:g.102675209C>T						WDR20_ENST00000342702.3_Silent_p.F234F|WDR20_ENST00000556807.1_Silent_p.F173F|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.F173F|WDR20_ENST00000424963.2_Silent_p.F110F|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Silent_p.F61F|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Silent_p.F265F	p.F234F	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	782	+			234					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.702C>T	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095245	0.08681	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.83	4.95	0.65309	.	.	.	.	.	T	0.71091	0.3299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70532	-0.4846	4	.	.	.	.	15.1418	0.72615	0.0:0.9324:0.0:0.0676	.	.	.	.	F	165	.	.	L	+	1	0	WDR20	101744962	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.812000	0.55628	1.486000	0.48398	-0.137000	0.14449	CTT		0.557	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		8	34	0	0	0	1	0	8	34				
OR2M2	391194	broad.mit.edu	37	1	248343434	248343434	+	Silent	SNP	C	C	T	rs568039481		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:248343434C>T	ENST00000359682.2	+	1	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTCCTCATCTACCTGGACA	0.532																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(145-147)atC>atT		olfactory receptor, family 2, subfamily M, member 2							302.0	289.0	293.0					1																	248343434		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343434C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.147C>T	1.37:g.248343434C>T							p.I49I	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	147	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.147C>T	CCDS31106.1																																																																																				0.532	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	225	0	0	0	1	0	9	225				
SLC22A7	10864	broad.mit.edu	37	6	43271915	43271915	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:43271915G>A	ENST00000372585.5	+	10	1620	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	SLC22A7_ENST00000372589.3_Missense_Mutation_p.A507T|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A507T|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	509					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A509T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCCGGCACCGCCCTCCTGCT	0.637																																						ENST00000372585.5																			1	Substitution - Missense(1)	p.A509T(1)	NS(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1525-1527)Gcc>Acc		solute carrier family 22 (organic anion transporter), member 7							61.0	70.0	67.0					6																	43271915		2203	4299	6502	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43271915G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1525G>A	6.37:g.43271915G>A	ENSP00000361666:p.Ala509Thr					SLC22A7_ENST00000372574.3_Missense_Mutation_p.A507T|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A507T	p.A509T	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		10	1620	+			509					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1525G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	32	5.106316	0.94292	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.34	5.34	0.76211	.	0.120762	0.56097	D	0.000031	T	0.50497	0.1619	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.41215	-0.9521	10	0.20519	T	0.43	.	15.9566	0.79891	0.0:0.0:1.0:0.0	.	507;507	Q9Y694-2;Q9Y694-3	.;.	T	507;509;507;202	ENSP00000361670:A507T;ENSP00000361666:A509T;ENSP00000361655:A507T;ENSP00000393836:A202T	ENSP00000361655:A507T	A	+	1	0	SLC22A7	43379893	0.809000	0.29036	1.000000	0.80357	0.940000	0.58332	4.091000	0.57700	2.497000	0.84241	0.561000	0.74099	GCC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			21	55	0	0	0	1	0	21	55				
ARFGEF2	10564	broad.mit.edu	37	20	47605037	47605037	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:47605037A>G	ENST00000371917.4	+	18	2371	c.2371A>G	c.(2371-2373)Aaa>Gaa	p.K791E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	791					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGTAAAAAATAAAATGACGAA	0.294																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2371-2373)Aaa>Gaa		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							36.0	40.0	38.0					20																	47605037		2172	4284	6456	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605037A>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2371A>G	20.37:g.47605037A>G	ENSP00000360985:p.Lys791Glu						p.K791E	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2371	+			791					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2371A>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935889	0.92458	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.80738	-1.41	5.73	5.73	0.89815	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.97516	4.02	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.95236	0.8347	10	0.87932	D	0	.	16.3265	0.82983	1.0:0.0:0.0:0.0	.	791	Q9Y6D5	BIG2_HUMAN	E	791	ENSP00000360985:K791E	ENSP00000360985:K791E	K	+	1	0	ARFGEF2	47038444	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.287000	0.95975	2.313000	0.78055	0.455000	0.32223	AAA		0.294	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	67	0	0	0	1	0	5	67				
CCR1	1230	broad.mit.edu	37	3	46244884	46244884	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:46244884C>A	ENST00000296140.3	-	2	1046	c.921G>T	c.(919-921)agG>agT	p.R307S	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	307					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTCCGGAACCTCTCACCAA	0.582																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(919-921)agG>agT		chemokine (C-C motif) receptor 1							96.0	82.0	86.0					3																	46244884		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244884C>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.921G>T	3.37:g.46244884C>A	ENSP00000296140:p.Arg307Ser					CCR3_ENST00000357422.2_Intron	p.R307S	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1046	-			307					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.921G>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309343	0.40895	.	.	ENSG00000163823	ENST00000296140	T	0.37058	1.22	5.41	2.64	0.31445	.	0.473100	0.20208	N	0.096941	T	0.53110	0.1776	M	0.86502	2.82	0.41067	D	0.985428	D	0.58620	0.983	P	0.56127	0.792	T	0.54180	-0.8332	10	0.87932	D	0	.	6.194	0.20540	0.0:0.6026:0.1243:0.2731	.	307	P32246	CCR1_HUMAN	S	307	ENSP00000296140:R307S	ENSP00000296140:R307S	R	-	3	2	CCR1	46219888	0.484000	0.25964	0.557000	0.28306	0.019000	0.09904	-0.154000	0.10130	0.354000	0.24105	-0.304000	0.09214	AGG		0.582	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		4	21	1	0	0.0215528	1	0.0221199	4	21				
SAMSN1	64092	broad.mit.edu	37	21	15882767	15882767	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:15882767C>A	ENST00000400566.1	-	5	506	c.425G>T	c.(424-426)tGt>tTt	p.C142F	SAMSN1_ENST00000285670.2_Missense_Mutation_p.C210F|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	142					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACCATCTGAACAGCTTGTTAT	0.453																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(628-630)tGt>tTt		SAM domain, SH3 domain and nuclear localization signals 1							98.0	92.0	94.0					21																	15882767		2052	4213	6265	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882767C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.425G>T	21.37:g.15882767C>A	ENSP00000383411:p.Cys142Phe					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.C142F	p.C210F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	803	-			142			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.629G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406279	0.62288	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.42513	0.97;0.97	5.78	5.78	0.91487	.	0.104030	0.64402	D	0.000003	T	0.66616	0.2807	M	0.70275	2.135	0.50813	D	0.999894	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.919	T	0.66188	-0.5986	10	0.56958	D	0.05	-14.8723	20.012	0.97458	0.0:1.0:0.0:0.0	.	210;142	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	F	210;142	ENSP00000285670:C210F;ENSP00000383411:C142F	ENSP00000285670:C210F	C	-	2	0	SAMSN1	14804638	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.428000	0.59894	2.731000	0.93534	0.655000	0.94253	TGT		0.453	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			7	64	1	0	0.00307968	1	0.00324615	7	64				
GPSM3	63940	broad.mit.edu	37	6	32159588	32159588	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:32159588C>A	ENST00000375040.3	-	3	635	c.243G>T	c.(241-243)agG>agT	p.R81S	GPSM3_ENST00000487761.1_Missense_Mutation_p.R78S|GPSM3_ENST00000375043.3_Missense_Mutation_p.R81S|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	81	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGTGGCCCTCTGCTCCT	0.642																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(241-243)agG>agT		G-protein signaling modulator 3							46.0	59.0	54.0					6																	32159588		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159588C>A	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.243G>T	6.37:g.32159588C>A	ENSP00000364180:p.Arg81Ser					GPSM3_ENST00000487761.1_Missense_Mutation_p.R78S|GPSM3_ENST00000375043.3_Missense_Mutation_p.R81S	p.R81S	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	635	-			81			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.243G>T	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368704	0.42003	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.18	-3.39	0.04868	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.37865	0.1019	L	0.29908	0.895	0.38429	D	0.946386	D;D	0.59767	0.986;0.986	P;P	0.61328	0.887;0.887	T	0.47573	-0.9107	9	0.87932	D	0	-0.6308	9.8788	0.41220	0.0:0.2685:0.0:0.7315	.	81;81	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	S	78;81;81	.	ENSP00000364180:R81S	R	-	3	2	GPSM3	32267566	0.994000	0.37717	0.973000	0.42090	0.421000	0.31385	-0.054000	0.11826	-0.601000	0.05783	0.460000	0.39030	AGG		0.642	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		7	44	1	0	1.26484e-09	1	1.42982e-09	7	44				
ZNF20	7568	broad.mit.edu	37	19	12244346	12244346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr19:12244346G>A	ENST00000334213.5	-	4	879	c.655C>T	c.(655-657)Cga>Tga	p.R219*	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	219					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)|kidney(1)|lung(6)	8						GTGTGAATTCGTTCATGGATA	0.393																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(655-657)Cga>Tga		zinc finger protein 20							110.0	119.0	116.0					19																	12244346		2197	4296	6493	SO:0001587	stop_gained	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244346G>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.655C>T	19.37:g.12244346G>A	ENSP00000335437:p.Arg219*					ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	p.R219*	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	879	-			219					Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	c.655C>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087545	0.76642	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	0.94	-0.343	0.12632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9302	0.13914	0.0:0.0:0.3388:0.6612	.	.	.	.	X	219	.	ENSP00000292241:R219X	R	-	1	2	ZNF20	12105346	0.000000	0.05858	0.005000	0.12908	0.437000	0.31866	-0.348000	0.07740	-0.157000	0.11059	0.313000	0.20887	CGA		0.393	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		8	129	0	0	0	1	0	8	129				
BUB3	9184	broad.mit.edu	37	10	124920076	124920076	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:124920076A>G	ENST00000368865.4	+	5	780	c.571A>G	c.(571-573)Aag>Gag	p.K191E	BUB3_ENST00000538238.1_Missense_Mutation_p.K111E|BUB3_ENST00000368858.5_Missense_Mutation_p.K191E|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GTTTCCAAACAAGCAGGTATT	0.438																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(571-573)Aag>Gag		BUB3 mitotic checkpoint protein							117.0	112.0	114.0					10																	124920076		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124920076A>G	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.571A>G	10.37:g.124920076A>G	ENSP00000357858:p.Lys191Glu					BUB3_ENST00000368858.5_Missense_Mutation_p.K191E|BUB3_ENST00000538238.1_Missense_Mutation_p.K111E|BUB3_ENST00000368859.2_Intron	p.K191E	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			5	780	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	191					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.571A>G	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416914	0.62511	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.69685	-0.42;1.66;-0.42;-0.42	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102270	0.64402	D	0.000003	T	0.62073	0.2398	L	0.51853	1.615	0.80722	D	1	B;B	0.15930	0.003;0.015	B;B	0.17722	0.017;0.019	T	0.58323	-0.7656	10	0.34782	T	0.22	0.7301	15.4116	0.74929	1.0:0.0:0.0:0.0	.	191;191	O43684;O43684-2	BUB3_HUMAN;.	E	191;111;191;191	ENSP00000357858:K191E;ENSP00000444354:K111E;ENSP00000357851:K191E;ENSP00000383941:K191E	ENSP00000357851:K191E	K	+	1	0	BUB3	124910066	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	AAG		0.438	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			16	39	0	0	0	1	0	16	39				
HRASLS5	117245	broad.mit.edu	37	11	63257732	63257732	+	Silent	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:63257732G>T	ENST00000301790.4	-	2	411	c.252C>A	c.(250-252)ggC>ggA	p.G84G	HRASLS5_ENST00000539221.1_Silent_p.G84G|HRASLS5_ENST00000540857.1_Silent_p.G74G			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	84							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGATGCTTCTGCCCTGTTCTA	0.483																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(220-222)ggC>ggA		HRAS-like suppressor family, member 5							196.0	222.0	213.0					11																	63257732		2201	4298	6499	SO:0001819	synonymous_variant	117245							g.chr11:63257732G>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.252C>A	11.37:g.63257732G>T						HRASLS5_ENST00000539221.1_Silent_p.G84G|HRASLS5_ENST00000301790.4_Silent_p.G84G	p.G74G	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	354	-			84					B7X6T1|F5GZ87|F5H4Y9	Silent	SNP	ENST00000301790.4	37	c.222C>A	CCDS8044.1																																																																																				0.483	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		5	306	1	0	5.9392e-07	1	6.61797e-07	5	306				
ACAT2	39	broad.mit.edu	37	6	160198397	160198397	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:160198397T>G	ENST00000367048.4	+	7	2581	c.821T>G	c.(820-822)cTt>cGt	p.L274R	ACAT2_ENST00000541436.1_Missense_Mutation_p.L303R|ACAT2_ENST00000472052.1_3'UTR|SNORA20_ENST00000384662.1_RNA	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	274					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAACGTGGGCTTACACCTTTA	0.428																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(820-822)cTt>cGt		acetyl-CoA acetyltransferase 2							154.0	141.0	145.0					6																	160198397		2203	4300	6503	SO:0001583	missense	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160198397T>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.821T>G	6.37:g.160198397T>G	ENSP00000356015:p.Leu274Arg					ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L303R	p.L274R	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	7	2581	+		Breast(66;0.000776)|Ovarian(120;0.0303)	274					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.821T>G	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529065	0.85706	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	Thiolase-like, subgroup (1);Thiolase, C-terminal (1);	0.194718	0.45126	D	0.000394	D	0.96950	0.9004	M	0.89840	3.065	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.978	D	0.97554	1.0094	10	0.66056	D	0.02	4.5908	16.3432	0.83101	0.0:0.0:0.0:1.0	.	303;274	B7Z233;Q9BWD1	.;THIC_HUMAN	R	274;303	ENSP00000356015:L274R;ENSP00000437850:L303R	ENSP00000356015:L274R	L	+	2	0	ACAT2	160118387	1.000000	0.71417	0.000000	0.03702	0.885000	0.51271	7.635000	0.83286	2.263000	0.75096	0.377000	0.23210	CTT		0.428	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		19	76	0	0	0	1	0	19	76				
TNN	63923	broad.mit.edu	37	1	175116119	175116119	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:175116119A>G	ENST00000239462.4	+	19	3925	c.3812A>G	c.(3811-3813)gAg>gGg	p.E1271G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1271	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTTACGTGGAGTTGAAAATC	0.517											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3811-3813)gAg>gGg		tenascin N							66.0	65.0	65.0					1																	175116119		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116119A>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3812A>G	1.37:g.175116119A>G	ENSP00000239462:p.Glu1271Gly		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.E1271G	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3925	+		Breast(1374;0.000962)	1271			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3812A>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577548	0.86645	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.78707	-1.2	5.8	4.68	0.58851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.052405	0.85682	D	0.000000	D	0.91418	0.7292	H	0.97587	4.035	0.54753	D	0.999984	D	0.71674	0.998	D	0.74023	0.982	D	0.92717	0.6188	10	0.87932	D	0	.	11.3331	0.49487	0.9288:0.0:0.0712:0.0	.	1271	Q9UQP3	TENN_HUMAN	G	1271;1094	ENSP00000239462:E1271G	ENSP00000239462:E1271G	E	+	2	0	TNN	173382742	1.000000	0.71417	0.846000	0.33378	0.992000	0.81027	8.612000	0.90909	1.033000	0.39918	0.472000	0.43445	GAG		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		4	90	0	0	0	1	0	4	90				
ZNF300	91975	broad.mit.edu	37	5	150276300	150276300	+	Silent	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:150276300C>A	ENST00000274599.5	-	6	921	c.501G>T	c.(499-501)ctG>ctT	p.L167L	ZNF300_ENST00000446148.2_Silent_p.L183L|ZNF300_ENST00000418587.2_Silent_p.L131L|ZNF300_ENST00000394226.2_Silent_p.L167L|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	167					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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATTTTCCCCAGTGGATTAT	0.343																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(547-549)ctG>ctT		zinc finger protein 300							97.0	98.0	98.0					5																	150276300		2203	4300	6503	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276300C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.501G>T	5.37:g.150276300C>A						ZNF300_ENST00000418587.2_Silent_p.L131L|ZNF300_ENST00000394226.2_Silent_p.L167L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.L167L	p.L183L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	976	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	167					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.549G>T	CCDS4311.2																																																																																				0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		4	103	1	0	0.00024832	1	0.000272802	4	103				
COL16A1	1307	broad.mit.edu	37	1	32138057	32138057	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:32138057A>T	ENST00000373672.3	-	47	3581	c.3065T>A	c.(3064-3066)cTa>cAa	p.L1022Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.L1022Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1022	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCAGGTAGGCCTGGGCT	0.607																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3064-3066)cTa>cAa		collagen, type XVI, alpha 1							81.0	89.0	87.0					1																	32138057		2045	4179	6224	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138057A>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3065T>A	1.37:g.32138057A>T	ENSP00000362776:p.Leu1022Gln					COL16A1_ENST00000271069.6_Missense_Mutation_p.L1022Q	p.L1022Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3581	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1022			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3065T>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413592	0.25465	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.93547	-3.24;-3.17;-2.85	4.45	1.91	0.25777	.	0.600804	0.15496	N	0.259320	D	0.86049	0.5840	L	0.41356	1.27	0.30701	N	0.750304	B;B	0.12630	0.006;0.005	B;B	0.08055	0.003;0.002	T	0.74134	-0.3763	10	0.13108	T	0.6	.	4.7279	0.12950	0.6076:0.2002:0.0:0.1922	.	1022;1022	Q07092;Q07092-2	COGA1_HUMAN;.	Q	1022;1022;227	ENSP00000362776:L1022Q;ENSP00000271069:L1022Q;ENSP00000411457:L227Q	ENSP00000271069:L1022Q	L	-	2	0	COL16A1	31910644	0.991000	0.36638	0.996000	0.52242	0.812000	0.45895	1.789000	0.38724	0.839000	0.34971	0.459000	0.35465	CTA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	64	0	0	0	1	0	4	64				
ARHGEF15	22899	broad.mit.edu	37	17	8218480	8218480	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:8218480C>T	ENST00000361926.3	+	6	1255	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A382V|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	382					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTGGAGATGCACCCACCTTC	0.627																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1144-1146)gCa>gTa		Rho guanine nucleotide exchange factor (GEF) 15							37.0	37.0	37.0					17																	8218480		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218480C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1145C>T	17.37:g.8218480C>T	ENSP00000355026:p.Ala382Val					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A382V	p.A382V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			6	1255	+			382					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1145C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	7.322	0.617207	0.14129	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.71103	-0.54;-0.54	4.88	2.89	0.33648	.	0.813526	0.11594	N	0.548457	T	0.56277	0.1974	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.16289	0.015;0.015	T	0.48670	-0.9015	10	0.49607	T	0.09	-0.034	8.3131	0.32084	0.0:0.8112:0.0:0.1888	.	382;382	D3DTR7;O94989	.;ARHGF_HUMAN	V	382;172;382	ENSP00000355026:A382V;ENSP00000412505:A382V	ENSP00000355026:A382V	A	+	2	0	ARHGEF15	8159205	0.006000	0.16342	0.015000	0.15790	0.060000	0.15804	2.165000	0.42396	0.755000	0.32990	-0.215000	0.12644	GCA		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		7	15	0	0	0	1	0	7	15				
SHANK2	22941	broad.mit.edu	37	11	70333013	70333013	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:70333013C>G	ENST00000423696.2	-	15	2284	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E534Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E533Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1130Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	750					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAATCCCCCTCCTCGGGGAAC	0.677																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3388-3390)Gag>Cag		SH3 and multiple ankyrin repeat domains 2							23.0	28.0	26.0					11																	70333013		2199	4287	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333013C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2248G>C	11.37:g.70333013C>G	ENSP00000394536:p.Glu750Gln					SHANK2_ENST00000449833.2_Missense_Mutation_p.E534Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E750Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E533Q	p.E1130Q			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3387	-			750					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3388G>C		.	.	.	.	.	.	.	.	.	.	C	16.73	3.203135	0.58234	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.05	5.05	0.67936	.	0.260668	0.43747	D	0.000540	T	0.71195	0.3311	M	0.82716	2.605	0.80722	D	1	D;P;D	0.65815	0.992;0.954;0.995	P;P;D	0.66497	0.881;0.765;0.944	T	0.76881	-0.2795	10	0.87932	D	0	.	18.4016	0.90518	0.0:1.0:0.0:0.0	.	750;1129;534	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	534;533;408;1130;750;768;753	ENSP00000399423:E534Q;ENSP00000386491:E533Q;ENSP00000402944:E408Q;ENSP00000345193:E1130Q;ENSP00000394536:E750Q;ENSP00000294018:E753Q	ENSP00000294018:E753Q	E	-	1	0	SHANK2	70010661	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.063000	0.76714	2.345000	0.79718	0.561000	0.74099	GAG		0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	48	0	0	0	1	0	4	48				
CWF19L2	143884	broad.mit.edu	37	11	107200696	107200696	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:107200696C>T	ENST00000282251.5	-	17	2516	c.2489G>A	c.(2488-2490)gGg>gAg	p.G830E		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	830							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGGGCAAACCCTCCGTGAAG	0.388																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2488-2490)gGg>gAg		CWF19-like 2, cell cycle control (S. pombe)							70.0	66.0	67.0					11																	107200696		2201	4297	6498	SO:0001583	missense	143884						catalytic activity	g.chr11:107200696C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2489G>A	11.37:g.107200696C>T	ENSP00000282251:p.Gly830Glu						p.G830E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	17	2516	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	830					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2489G>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	30	5.052378	0.93793	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.34472	1.36	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79916	-0.1601	10	0.72032	D	0.01	-17.1159	18.948	0.92628	0.0:1.0:0.0:0.0	.	830	Q2TBE0	C19L2_HUMAN	E	830;88	ENSP00000282251:G830E	ENSP00000282251:G830E	G	-	2	0	CWF19L2	106705906	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.815000	0.86186	2.716000	0.92895	0.655000	0.94253	GGG		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		3	6	0	0	0	1	0	3	6				
FAM26E	254228	broad.mit.edu	37	6	116833239	116833239	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:116833239G>C	ENST00000368599.3	+	1	431	c.380G>C	c.(379-381)tGt>tCt	p.C127S	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	127					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTCTATGAATGTGCCATGAGC	0.498																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(379-381)tGt>tCt		family with sequence similarity 26, member E							57.0	54.0	55.0					6																	116833239		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116833239G>C	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.380G>C	6.37:g.116833239G>C	ENSP00000357588:p.Cys127Ser					TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	p.C127S	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	1	431	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	127					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.380G>C	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557022	0.86231	.	.	ENSG00000178033	ENST00000368599	T	0.65732	-0.17	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84184	0.0441	10	0.87932	D	0	-1.1948	18.0519	0.89351	0.0:0.0:1.0:0.0	.	127	Q8N5C1	FA26E_HUMAN	S	127	ENSP00000357588:C127S	ENSP00000357588:C127S	C	+	2	0	FAM26E	116939932	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.121000	0.94375	2.576000	0.86940	0.561000	0.74099	TGT		0.498	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		4	56	0	0	0	1	0	4	56				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	32	1	0	1	1	1	4	32				
HRNR	388697	broad.mit.edu	37	1	152191168	152191168	+	Silent	SNP	C	C	T	rs146693658	byFrequency	TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:152191168C>T	ENST00000368801.2	-	3	3012	c.2937G>A	c.(2935-2937)tcG>tcA	p.S979S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2935-2937)tcG>tcA		hornerin		T		0,4406		0,0,2203	274.0	260.0	265.0		2937	-0.5	0.0	1	dbSNP_134	265	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	HRNR	NM_001009931.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		979/2851	152191168	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191168C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2937G>A	1.37:g.152191168C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S979S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3012	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		979					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2937G>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	243	0	0	0	1	0	6	243				
SCTR	6344	broad.mit.edu	37	2	120236398	120236398	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr2:120236398G>T	ENST00000019103.5	-	3	557	c.290C>A	c.(289-291)aCc>aAc	p.T97N	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	97					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATTTCTGCTGGTGAGCATCCG	0.632																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(289-291)aCc>aAc		secretin receptor	Secretin(DB00021)						73.0	64.0	67.0					2																	120236398		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120236398G>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.290C>A	2.37:g.120236398G>T	ENSP00000019103:p.Thr97Asn					AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	p.T97N	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			3	557	-			97					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.290C>A	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	1.830	-0.469988	0.04445	.	.	ENSG00000080293	ENST00000019103	T	0.62364	0.03	4.87	3.97	0.46021	GPCR, family 2, extracellular hormone receptor domain (3);	0.310256	0.27618	N	0.018564	T	0.41096	0.1144	N	0.17674	0.51	0.24915	N	0.992014	B	0.12630	0.006	B	0.19666	0.026	T	0.20207	-1.0282	10	0.09590	T	0.72	.	8.5191	0.33264	0.109:0.0:0.891:0.0	.	97	P47872	SCTR_HUMAN	N	97	ENSP00000019103:T97N	ENSP00000019103:T97N	T	-	2	0	SCTR	119952868	0.994000	0.37717	0.267000	0.24556	0.135000	0.20990	2.442000	0.44873	1.374000	0.46228	0.655000	0.94253	ACC		0.632	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			8	18	1	0	0.000274275	1	0.000297131	8	18				
AWAT1	158833	broad.mit.edu	37	X	69458062	69458062	+	Splice_Site	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:69458062G>T	ENST00000374521.3	+	5	502	c.461G>T	c.(460-462)gGt>gTt	p.G154V		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	154					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTCTCTTTAGGTGTGTGCTCT	0.512																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.e5-1		acyl-CoA wax alcohol acyltransferase 1							94.0	79.0	84.0					X																	69458062		2203	4300	6503	SO:0001630	splice_region_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458062G>T	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.461-1G>T	X.37:g.69458062G>T							p.G154_splice	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			5	502	+			154					Q5JT21|Q6IEE4	Splice_Site	SNP	ENST00000374521.3	37	c.460_splice	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912759	0.72983	.	.	ENSG00000204195	ENST00000374521	T	0.37584	1.19	4.79	4.79	0.61399	.	0.166320	0.41396	D	0.000890	T	0.68577	0.3016	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77770	-0.2463	9	.	.	.	.	15.4878	0.75582	0.0:0.0:1.0:0.0	.	154	Q58HT5	AWAT1_HUMAN	V	154	ENSP00000363645:G154V	.	G	+	2	0	AWAT1	69374787	1.000000	0.71417	0.985000	0.45067	0.866000	0.49608	8.036000	0.88901	2.213000	0.71641	0.529000	0.55759	GGT		0.512	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	Missense_Mutation	5	24	1	0	0.000602214	1	0.000643462	5	24				
TAF3	83860	broad.mit.edu	37	10	8051082	8051082	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:8051082C>T	ENST00000344293.5	+	5	2563	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	786	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCAAGCCGGCGCCCTCGCAG	0.667																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2356-2358)gCg>gTg		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							43.0	48.0	46.0					10																	8051082		1784	3964	5748	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8051082C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2357C>T	10.37:g.8051082C>T	ENSP00000340271:p.Ala786Val						p.A786V	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			5	2563	+			786			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2357C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006182	0.19199	.	.	ENSG00000165632	ENST00000344293	T	0.19105	2.17	5.85	2.94	0.34122	.	0.600012	0.14906	N	0.291523	T	0.23094	0.0558	M	0.65975	2.015	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18366	-1.0339	10	0.29301	T	0.29	-5.2073	11.2585	0.49069	0.0:0.6958:0.2396:0.0646	.	786	Q5VWG9	TAF3_HUMAN	V	786	ENSP00000340271:A786V	ENSP00000340271:A786V	A	+	2	0	TAF3	8091088	0.078000	0.21339	0.000000	0.03702	0.005000	0.04900	3.592000	0.53993	0.359000	0.24239	-0.882000	0.02950	GCG		0.667	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		4	35	0	0	0	1	0	4	35				
PCDHA7	56141	broad.mit.edu	37	5	140214233	140214233	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140214233C>T	ENST00000525929.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R89W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATCGACCG	0.602																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(265-267)Cgg>Tgg									110.0	133.0	125.0					5																	140214233		2203	4297	6500	SO:0001583	missense	0							g.chr5:140214233C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.265C>T	5.37:g.140214233C>T	ENSP00000436426:p.Arg89Trp					PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R89W|PCDHA4_ENST00000512229.2_Intron	p.R89W	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	265	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.265C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372811	0.61624	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.36157	1.27;1.27	4.17	4.17	0.49024	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	1.186040	0.06988	U	0.821100	T	0.70422	0.3222	H	0.98664	4.295	0.21967	N	0.999449	P;D	0.54601	0.929;0.967	P;P	0.56474	0.799;0.708	T	0.60084	-0.7332	10	0.72032	D	0.01	.	8.9613	0.35849	0.1664:0.6724:0.1612:0.0	.	89;89	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	89	ENSP00000436426:R89W;ENSP00000367365:R89W	ENSP00000367365:R89W	R	+	1	2	PCDHA7	140194417	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	0.181000	0.16880	2.028000	0.59812	0.449000	0.29647	CGG		0.602	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		42	159	0	0	0	1	0	42	159				
FGB	2244	broad.mit.edu	37	4	155487688	155487688	+	Silent	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:155487688A>G	ENST00000302068.4	+	3	417	c.354A>G	c.(352-354)caA>caG	p.Q118Q	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	118					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTTGCTACAACAGGAAAGGC	0.413																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(352-354)caA>caG		fibrinogen beta chain	Sucralfate(DB00364)						159.0	146.0	151.0					4																	155487688		2203	4300	6503	SO:0001819	synonymous_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487688A>G		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.354A>G	4.37:g.155487688A>G						FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	p.Q118Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			3	417	+	all_hematologic(180;0.215)	Renal(120;0.0458)	118					A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	c.354A>G	CCDS3786.1																																																																																				0.413	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		8	72	0	0	0	1	0	8	72				
FXR2	9513	broad.mit.edu	37	17	7504806	7504806	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:7504806A>T	ENST00000250113.7	-	7	915	c.581T>A	c.(580-582)cTg>cAg	p.L194Q		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	194						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATATCACCCAGCAGAGATGC	0.488																																						ENST00000250113.7																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(580-582)cTg>cAg		fragile X mental retardation, autosomal homolog 2							202.0	198.0	199.0					17																	7504806		1951	4167	6118	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7504806A>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.581T>A	17.37:g.7504806A>T	ENSP00000250113:p.Leu194Gln						p.L194Q	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	7	915	-			194					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.581T>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736007	0.89482	.	.	ENSG00000129245	ENST00000250113	T	0.60920	0.15	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.76744	0.4030	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.74674	0.984;0.976	T	0.80723	-0.1255	10	0.87932	D	0	-4.7541	13.4469	0.61146	1.0:0.0:0.0:0.0	.	194;194	Q86V09;P51116	.;FXR2_HUMAN	Q	194	ENSP00000250113:L194Q	ENSP00000250113:L194Q	L	-	2	0	FXR2	7445531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.092000	0.94157	2.059000	0.61396	0.523000	0.50628	CTG		0.488	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			12	158	0	0	0	1	0	12	158				
TRAV18	28665	broad.mit.edu	37	14	22471453	22471453	+	RNA	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:22471453C>T	ENST00000390446.3	+	0	109									T cell receptor alpha variable 18																		GCCAGCCATGCTGTCTGCTTC	0.393																																						ENST00000390446.3																			0																				106.0	102.0	103.0					14																	22471453		1872	4110	5982			0							g.chr14:22471453C>T	AE000660		14q11.2	2012-02-07			ENSG00000211798	ENSG00000211798		"""T cell receptors / TRA locus"""	12114	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV18S1			OTTHUMG00000170644		14.37:g.22471453C>T														0	109	+									RNA	SNP	ENST00000390446.3	37																																																																																						0.393	TRAV18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409892.1	NG_001332		13	23	0	0	0	1	0	13	23				
GARNL3	84253	broad.mit.edu	37	9	130094618	130094618	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:130094618G>A	ENST00000373387.4	+	8	1012	c.660G>A	c.(658-660)atG>atA	p.M220I	GARNL3_ENST00000314904.5_Missense_Mutation_p.M220I|GARNL3_ENST00000435213.2_Missense_Mutation_p.M198I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	220	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATGATGAGATGTTCAGCAATG	0.453																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(658-660)atG>atA		GTPase activating Rap/RanGAP domain-like 3							215.0	212.0	213.0					9																	130094618		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130094618G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.660G>A	9.37:g.130094618G>A	ENSP00000362485:p.Met220Ile					GARNL3_ENST00000314904.5_Missense_Mutation_p.M220I|GARNL3_ENST00000435213.2_Missense_Mutation_p.M198I	p.M220I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			8	1012	+			220			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.660G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775731	0.90195	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.037254	0.85682	D	0.000000	D	0.87337	0.6152	N	0.25789	0.76	0.80722	D	1	P;P;B	0.45569	0.861;0.6;0.128	P;B;B	0.44860	0.462;0.364;0.112	D	0.85850	0.1403	9	.	.	.	.	18.6269	0.91344	0.0:0.0:1.0:0.0	.	220;198;161	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	I	243;243;198;220;220	ENSP00000400579:M243I;ENSP00000396205:M198I;ENSP00000313970:M220I;ENSP00000362485:M220I	.	M	+	3	0	GARNL3	129134439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	2.735000	0.93741	0.655000	0.94253	ATG		0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		6	154	0	0	0	1	0	6	154				
DDR1	780	broad.mit.edu	37	6	30865883	30865883	+	Silent	SNP	C	C	T	rs201248998		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:30865883C>T	ENST00000324771.8	+	18	2798	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Silent_p.I750I|DDR1_ENST00000452441.1_Silent_p.I750I|DDR1_ENST00000454612.2_Silent_p.I713I|DDR1_ENST00000513240.1_Silent_p.I756I|DDR1_ENST00000508312.1_Silent_p.I731I|DDR1_ENST00000376575.3_Silent_p.I756I|DDR1_ENST00000418800.2_Silent_p.I713I|DDR1_ENST00000376567.2_Silent_p.I713I|DDR1_ENST00000376570.4_Silent_p.I713I|DDR1_ENST00000361741.4_Silent_p.I417I|DDR1_ENST00000376569.3_Silent_p.I713I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGCCCAGATCGCCTCCGGCA	0.567																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2248-2250)atC>atT		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						44.0	44.0	44.0					6																	30865883		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865883C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2250C>T	6.37:g.30865883C>T						DDR1_ENST00000376569.3_Silent_p.I713I|DDR1_ENST00000376567.2_Silent_p.I713I|DDR1_ENST00000376568.3_Silent_p.I750I|DDR1_ENST00000418800.2_Silent_p.I713I|DDR1_ENST00000454612.2_Silent_p.I713I|DDR1_ENST00000361741.4_Silent_p.I417I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.I713I|DDR1_ENST00000376575.3_Silent_p.I756I|DDR1_ENST00000452441.1_Silent_p.I750I|DDR1_ENST00000513240.1_Silent_p.I756I|DDR1_ENST00000508312.1_Silent_p.I731I	p.I750I			Q08345	DDR1_HUMAN			18	2798	+			750			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.2250C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145069	0.21288	.	.	ENSG00000204580	ENST00000484556	.	.	.	4.96	-7.45	0.01374	.	.	.	.	.	T	0.51466	0.1676	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66606	-0.5881	4	.	.	.	.	17.3859	0.87415	0.0:0.1569:0.0:0.8431	.	.	.	.	L	107	.	.	S	+	2	0	DDR1	30973862	0.000000	0.05858	0.532000	0.27989	0.923000	0.55619	-4.144000	0.00286	-1.779000	0.01280	-0.244000	0.11960	TCG		0.567	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		4	27	0	0	0	1	0	4	27				
PCDHB2	56133	broad.mit.edu	37	5	140476345	140476345	+	Silent	SNP	C	C	T	rs571517800		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140476345C>T	ENST00000194155.4	+	1	2119	c.1971C>T	c.(1969-1971)acC>acT	p.T657T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.716																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1969-1971)acC>acT									36.0	35.0	35.0					5																	140476345		1843	3701	5544	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476345C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1971C>T	5.37:g.140476345C>T							p.T657T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2119	+			657			Cadherin 6.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1971C>T	CCDS4244.1																																																																																				0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	73	0	0	0	1	0	4	73				
OR5D14	219436	broad.mit.edu	37	11	55563038	55563038	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:55563038A>T	ENST00000335605.1	+	1	7	c.7A>T	c.(7-9)Atg>Ttg	p.M3L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATTATGATGATGGTTTTAAG	0.383																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(7-9)Atg>Ttg		olfactory receptor, family 5, subfamily D, member 14							81.0	82.0	82.0					11																	55563038		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563038A>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.7A>T	11.37:g.55563038A>T	ENSP00000334456:p.Met3Leu						p.M3L	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	7	+		all_epithelial(135;0.196)	3					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.7A>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	4.558	0.103566	0.08731	.	.	ENSG00000186113	ENST00000335605	T	0.03772	3.81	4.2	0.507	0.16967	.	0.549939	0.16654	N	0.205090	T	0.04137	0.0115	L	0.39566	1.225	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36089	-0.9762	10	0.51188	T	0.08	-10.5846	4.8502	0.13533	0.6536:0.1658:0.1806:0.0	.	3	Q8NGL3	OR5DE_HUMAN	L	3	ENSP00000334456:M3L	ENSP00000334456:M3L	M	+	1	0	OR5D14	55319614	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.274000	0.08537	-0.074000	0.12820	-0.408000	0.06270	ATG		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		4	98	0	0	0	1	0	4	98				
B4GALNT1	2583	broad.mit.edu	37	12	58020596	58020596	+	Silent	SNP	G	G	A	rs368931577		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:58020596G>A	ENST00000341156.4	-	11	2117	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	B4GALNT1_ENST00000418555.2_Silent_p.D456D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	511					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTGGCTCTCGTCCAGTGATC	0.577																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1531-1533)gaC>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 1							180.0	144.0	156.0					12																	58020596		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020596G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1533C>T	12.37:g.58020596G>A						B4GALNT1_ENST00000418555.2_Silent_p.D456D	p.D511D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	2117	-	Melanoma(17;0.122)		511					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1533C>T	CCDS8950.1																																																																																				0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		23	77	0	0	0	1	0	23	77				
FUT8	2530	broad.mit.edu	37	14	66190944	66190944	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:66190944G>C	ENST00000360689.5	+	9	2889	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Missense_Mutation_p.E225Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E388Q|FUT8_ENST00000358307.2_Missense_Mutation_p.E259Q|FUT8_ENST00000394585.1_Missense_Mutation_p.E388Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	388	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCATGTTGAAGAACATTTTCA	0.433																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1162-1164)Gaa>Caa		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							128.0	105.0	113.0					14																	66190944		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66190944G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1162G>C	14.37:g.66190944G>C	ENSP00000353910:p.Glu388Gln					FUT8_ENST00000358307.2_Missense_Mutation_p.E259Q|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.E388Q|FUT8_ENST00000557164.1_Missense_Mutation_p.E225Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E388Q	p.E388Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	9	2889	+			388					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1162G>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945740	0.73672	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.81	5.81	0.92471	.	0.046567	0.85682	D	0.000000	T	0.24275	0.0588	L	0.39326	1.205	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.41202	0.263;0.35	T	0.01363	-1.1374	10	0.23302	T	0.38	-13.4837	17.5723	0.87937	0.0:0.0:1.0:0.0	.	259;388	G3XAD2;Q9BYC5	.;FUT8_HUMAN	Q	388;388;225;388;259	ENSP00000353910:E388Q;ENSP00000378087:E388Q;ENSP00000452433:E225Q;ENSP00000378086:E388Q;ENSP00000351057:E259Q	ENSP00000351057:E259Q	E	+	1	0	FUT8	65260697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.804000	0.99143	2.736000	0.93811	0.655000	0.94253	GAA		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		14	48	0	0	0	1	0	14	48				
PRICKLE2	166336	broad.mit.edu	37	3	64138975	64138975	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:64138975C>T	ENST00000295902.6	-	6	1255	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E280K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	224	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCTCACACTCGAAGCAGCAA	0.517																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(670-672)Gag>Aag		prickle homolog 2 (Drosophila)							165.0	145.0	152.0					3																	64138975		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64138975C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.670G>A	3.37:g.64138975C>T	ENSP00000295902:p.Glu224Lys					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E280K	p.E224K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1255	-		Lung NSC(201;0.136)	224			LIM zinc-binding 2.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.670G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	37	6.151290	0.97329	.	.	ENSG00000163637	ENST00000295902	D	0.87334	-2.24	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.91331	0.7266	L	0.58925	1.835	0.80722	D	1	D	0.60575	0.988	P	0.58077	0.832	D	0.91577	0.5276	10	0.72032	D	0.01	-40.3549	19.8805	0.96895	0.0:1.0:0.0:0.0	.	224	Q7Z3G6	PRIC2_HUMAN	K	224	ENSP00000295902:E224K	ENSP00000295902:E224K	E	-	1	0	PRICKLE2	64114015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.778000	0.95560	0.655000	0.94253	GAG		0.517	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		22	106	0	0	0	1	0	22	106				
EPB41L3	23136	broad.mit.edu	37	18	5397070	5397070	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr18:5397070T>A	ENST00000341928.2	-	18	3168	c.2828A>T	c.(2827-2829)aAa>aTa	p.K943I	EPB41L3_ENST00000342933.3_Missense_Mutation_p.K943I|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K240I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K721I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K721I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K774I|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K248I|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAATGAGGTTTTTGTTCCAA	0.418																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2827-2829)aAa>aTa		erythrocyte membrane protein band 4.1-like 3							74.0	73.0	73.0					18																	5397070		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397070T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2828A>T	18.37:g.5397070T>A	ENSP00000343158:p.Lys943Ile					EPB41L3_ENST00000542146.1_Missense_Mutation_p.K248I|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K240I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K943I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K774I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K721I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K721I	p.K943I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3168	-			943			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2828A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339505	0.60963	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.76	3.36	0.38483	.	0.307287	0.34652	N	0.003791	T	0.71476	0.3344	M	0.71581	2.175	0.53688	D	0.999976	D;D;B;B;B;B;P;B	0.89917	0.999;1.0;0.38;0.027;0.28;0.053;0.601;0.027	D;D;B;B;B;B;B;B	0.91635	0.997;0.999;0.355;0.019;0.117;0.052;0.288;0.013	T	0.68198	-0.5472	10	0.16896	T	0.51	.	7.3062	0.26449	0.13:0.0697:0.0:0.8003	.	774;240;248;335;612;721;943;178	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	I	943;612;774;612;240;248;943;721	ENSP00000343158:K943I;ENSP00000441174:K774I;ENSP00000392195:K240I;ENSP00000442233:K248I;ENSP00000341138:K943I;ENSP00000382981:K721I	ENSP00000343158:K943I	K	-	2	0	EPB41L3	5387070	1.000000	0.71417	0.918000	0.36340	0.871000	0.50021	2.149000	0.42244	0.975000	0.38392	0.482000	0.46254	AAA		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		13	55	0	0	0	1	0	13	55				
KIAA1524	57650	broad.mit.edu	37	3	108287155	108287155	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:108287155T>C	ENST00000295746.8	-	10	1196	c.1120A>G	c.(1120-1122)Ata>Gta	p.I374V	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.I215V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	374					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGCATCTATGACATCCTGG	0.373																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1120-1122)Ata>Gta		KIAA1524							80.0	83.0	82.0					3																	108287155		2201	4299	6500	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108287155T>C	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1120A>G	3.37:g.108287155T>C	ENSP00000295746:p.Ile374Val					KIAA1524_ENST00000491772.1_Missense_Mutation_p.I215V|KIAA1524_ENST00000487834.1_5'UTR	p.I374V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			10	1196	-			374					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1120A>G	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409407	0.42715	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.12361	2.69;2.83	5.5	2.95	0.34219	Armadillo-type fold (1);	0.242436	0.42682	N	0.000670	T	0.13030	0.0316	L	0.59436	1.845	0.46478	D	0.999062	B	0.06786	0.001	B	0.10450	0.005	T	0.06197	-1.0840	10	0.31617	T	0.26	-8.3005	7.3775	0.26837	0.0:0.078:0.1427:0.7793	.	374	Q8TCG1	CIP2A_HUMAN	V	215;374	ENSP00000419487:I215V;ENSP00000295746:I374V	ENSP00000295746:I374V	I	-	1	0	KIAA1524	109769845	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.330000	0.33781	0.905000	0.36596	0.533000	0.62120	ATA		0.373	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		9	18	0	0	0	1	0	9	18				
CD1D	912	broad.mit.edu	37	1	158152720	158152720	+	Silent	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:158152720G>A	ENST00000368171.3	+	5	1159	c.660G>A	c.(658-660)ctG>ctA	p.L220L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	220	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGGCCGTCTGCTGCTGGTGT	0.597																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(658-660)ctG>ctA		CD1d molecule							87.0	86.0	87.0					1																	158152720		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152720G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.660G>A	1.37:g.158152720G>A							p.L220L	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1159	+	all_hematologic(112;0.0378)		220			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.660G>A	CCDS1173.1																																																																																				0.597	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		4	75	0	0	0	1	0	4	75				
PLCE1	51196	broad.mit.edu	37	10	95993938	95993938	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:95993938C>G	ENST00000371380.3	+	5	2318	c.2083C>G	c.(2083-2085)Ctg>Gtg	p.L695V	PLCE1_ENST00000260766.3_Missense_Mutation_p.L695V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L387V|PLCE1_ENST00000371385.3_Missense_Mutation_p.L387V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	695	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACACGTGCCCTGCACATCCC	0.542																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2083-2085)Ctg>Gtg		phospholipase C, epsilon 1							152.0	157.0	156.0					10																	95993938		2067	4201	6268	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95993938C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2083C>G	10.37:g.95993938C>G	ENSP00000360431:p.Leu695Val					PLCE1_ENST00000371385.3_Missense_Mutation_p.L387V|PLCE1_ENST00000371380.2_Missense_Mutation_p.L695V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L387V	p.L695V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			6	2717	+		Colorectal(252;0.0458)	695			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2083C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128543	0.77549	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32023	1.47;1.47;1.48;1.48	5.78	3.72	0.42706	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.080986	0.50627	D	0.000113	T	0.49695	0.1572	M	0.62723	1.935	0.38191	D	0.939902	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.70487	0.969;0.897;0.947	T	0.55636	-0.8110	10	0.87932	D	0	.	11.7524	0.51855	0.0:0.8457:0.0:0.1543	.	695;387;695	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	695;695;387;387	ENSP00000260766:L695V;ENSP00000360431:L695V;ENSP00000360438:L387V;ENSP00000360426:L387V	ENSP00000260766:L695V	L	+	1	2	PLCE1	95983928	0.993000	0.37304	0.705000	0.30386	0.929000	0.56500	3.061000	0.49963	0.755000	0.32990	0.655000	0.94253	CTG		0.542	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		4	73	0	0	0	1	0	4	73				
COL1A1	1277	broad.mit.edu	37	17	48265275	48265275	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:48265275G>A	ENST00000225964.5	-	45	3449	c.3331C>T	c.(3331-3333)Cgt>Tgt	p.R1111C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1111	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GAGAAGCCACGGTGACCCTTT	0.622			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3331-3333)Cgt>Tgt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						91.0	82.0	85.0					17																	48265275		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48265275G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3331C>T	17.37:g.48265275G>A	ENSP00000225964:p.Arg1111Cys						p.R1111C	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			45	3449	-			1111			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3331C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289915	0.80914	.	.	ENSG00000108821	ENST00000225964	D	0.93426	-3.22	5.0	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95519	0.8593	10	0.87932	D	0	.	9.8241	0.40901	0.0:0.0:0.5898:0.4102	.	1111	P02452	CO1A1_HUMAN	C	1111	ENSP00000225964:R1111C	ENSP00000225964:R1111C	R	-	1	0	COL1A1	45620274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.714000	0.47202	2.315000	0.78130	0.462000	0.41574	CGT		0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			6	128	0	0	0	1	0	6	128				
C8B	732	broad.mit.edu	37	1	57406545	57406548	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:57406545_57406548delTGTA	ENST00000371237.4	-	9	1438_1441	c.1372_1375delTACA	c.(1372-1377)tacaacfs	p.YN458fs	C8B_ENST00000543257.1_Frame_Shift_Del_p.YN406fs|C8B_ENST00000535057.1_Frame_Shift_Del_p.YN396fs	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGGCTGGGTTGTACTGCACAGCG	0.559																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1216-1221)acfs		complement component 8, beta polypeptide																																				SO:0001589	frameshift_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57406545_57406548delTGTA	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1372_1375delTACA	1.37:g.57406545_57406548delTGTA	ENSP00000360281:p.Tyr458fs					C8B_ENST00000535057.1_Frame_Shift_Del_p.YN396fs|C8B_ENST00000371237.4_Frame_Shift_Del_p.YN458fs	p.YN406fs	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			10	1782_1785	-			458			MACPF.		A1L4K7	Frame_Shift_Del	DEL	ENST00000371237.4	37	c.1216_1219delTACA	CCDS30730.1																																																																																				0.559	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			18	61						18	61	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2152-2154)aafs		polycystic kidney disease 2 (autosomal dominant)							102.0	109.0	106.0					4																	88986559		2203	4300	6503	SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986559delA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs					PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	p.K719fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	719			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37	c.2152delA																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		9	97						9	97	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		5	10						5	10	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160047362	160047362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:160047362delG	ENST00000327245.5	-	15	3254	c.2408delC	c.(2407-2409)ccafs	p.P803fs	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	803					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGCAGGCTGGGTCTTCCAG	0.507																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2407-2409)cafs		ATPase, class V, type 10B							59.0	62.0	61.0					5																	160047362		2033	4191	6224	SO:0001589	frameshift_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047362delG	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2408delC	5.37:g.160047362delG	ENSP00000313600:p.Pro803fs					CTC-348L5.1_ENST00000523598.1_RNA	p.P803fs	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3254	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	803					Q9H725	Frame_Shift_Del	DEL	ENST00000327245.5	37	c.2408delC	CCDS43394.1																																																																																				0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		8	43						8	43	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7583265	7583266	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:7583265_7583266delAC	ENST00000379802.3	+	24	6111_6112	c.5770_5771delAC	c.(5770-5772)acafs	p.T1924fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.T1325fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1924	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCAGGGAGACACAGTCACAG	0.49																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5770-5772)afs		desmoplakin																																				SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583265_7583266delAC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5770_5771delAC	6.37:g.7583267_7583268delAC	ENSP00000369129:p.Thr1924fs					DSP_ENST00000418664.2_Frame_Shift_Del_p.T1325fs	p.T1924fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6111_6112	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1924			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.5770_5771delAC	CCDS4501.1																																																																																				0.490	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	67						9	67	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			3	6						3	6	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32903584	32903584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr13:32903584delA	ENST00000380152.3	+	8	869	c.636delA	c.(634-636)agafs	p.R212fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.R212fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	212					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTACAGTCAGAAATGAAGAAG	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(634-636)agfs	Homologous recombination	breast cancer 2, early onset							54.0	54.0	54.0					13																	32903584		2197	4282	6479	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32903584delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.636delA	13.37:g.32903584delA	ENSP00000369497:p.Arg212fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.R212fs	p.R212fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	8	863	+		Lung SC(185;0.0262)	212					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.636delA	CCDS9344.1																																																																																				0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	40						12	40	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337295	33337304	+	Frame_Shift_Del	DEL	CCCAAAATGG	CCCAAAATGG	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:33337295_33337304delCCCAAAATGG	ENST00000374796.2	-	10	5264_5273	c.2694_2703delCCATTTTGGG	c.(2692-2703)ggccattttgggfs	p.GHFG898fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.GHFG898fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	898	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGTTTACCCCAAAATGGCCTGCAGATA	0.419																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2692-2703)ggfs		nuclear receptor coactivator 6																																				SO:0001589	frameshift_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337295_33337304delCCCAAAATGG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2694_2703delCCATTTTGGG	20.37:g.33337295_33337304delCCCAAAATGG	ENSP00000363929:p.Gly898fs					NCOA6_ENST00000359003.2_Frame_Shift_Del_p.GHFG898fs	p.GHFG898fs			Q14686	NCOA6_HUMAN			10	5264_5273	-			898			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	ENST00000374796.2	37	c.2694_2703delCCATTTTGGG	CCDS13241.1																																																																																				0.419	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	125						7	125	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50988343	50988344	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr22:50988343_50988344delCT	ENST00000395676.2	+	1	1882_1883	c.1748_1749delCT	c.(1747-1749)actfs	p.T583fs	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	583										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCATCCTGACTCTGCCCCCTG	0.649																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1747-1749)afs		kelch domain containing 7B																																				SO:0001589	frameshift_variant	113730							g.chr22:50988343_50988344delCT	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1748_1749delCT	22.37:g.50988345_50988346delCT	ENSP00000379034:p.Thr583fs						p.T583fs	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1882_1883	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	583						Frame_Shift_Del	DEL	ENST00000395676.2	37	c.1748_1749delCT	CCDS14097.2																																																																																				0.649	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		5	7						5	7	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14599376	14599383	+	Frame_Shift_Del	DEL	TGACTCCC	TGACTCCC	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:14599376_14599383delTGACTCCC	ENST00000218075.4	+	4	872_879	c.342_349delTGACTCCC	c.(340-351)gatgactccctgfs	p.DSL115fs	GLRA2_ENST00000443437.2_Frame_Shift_Del_p.DSL26fs|GLRA2_ENST00000355020.4_Frame_Shift_Del_p.DSL115fs	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	115					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGTACCCAGATGACTCCCTGGACTTGGA	0.471																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(340-351)gatgfs		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)																																			SO:0001589	frameshift_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599376_14599383delTGACTCCC		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.342_349delTGACTCCC	X.37:g.14599376_14599383delTGACTCCC	ENSP00000218075:p.Asp115fs					GLRA2_ENST00000355020.4_Frame_Shift_Del_p.DDSL114fs|GLRA2_ENST00000443437.2_Frame_Shift_Del_p.DDSL25fs	p.DDSL114fs	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			4	872_879	+	Hepatocellular(33;0.128)		114					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Frame_Shift_Del	DEL	ENST00000218075.4	37	c.342_349delTGACTCCC	CCDS14160.1																																																																																				0.471	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			18	40						18	40	---	---	---	---
