#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:8693386G>A	ENST00000299663.3	-	1	173	c.8C>T	c.(7-9)tCa>tTa	p.S3L	CLEC4E_ENST00000446457.2_Missense_Mutation_p.S3L|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S3L	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363																																						ENST00000299663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(7-9)tCa>tTa		C-type lectin domain family 4, member E							309.0	265.0	280.0					12																	8693386		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8693386G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.8C>T	12.37:g.8693386G>A	ENSP00000299663:p.Ser3Leu		Somatic				CLEC4E_ENST00000545274.1_Missense_Mutation_p.S3L|CLEC4E_ENST00000446457.2_Missense_Mutation_p.S3L	p.S3L	NM_014358.2	NP_055173.1	WXS	Illumina GAIIx	Phase_I	Q9ULY5	CLC4E_HUMAN			1	173	-	Lung SC(5;0.184)		3					B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.8C>T	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942339	0.53079	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.41400	4.0;1.0	3.83	2.94	0.34122	.	0.249082	0.21867	N	0.067951	T	0.46964	0.1420	L	0.57536	1.79	0.09310	N	0.999996	D	0.56968	0.978	P	0.53649	0.731	T	0.32052	-0.9921	10	0.62326	D	0.03	.	7.1032	0.25348	0.1202:0.0:0.8798:0.0	.	3	Q9ULY5	CLC4E_HUMAN	L	3	ENSP00000299663:S3L;ENSP00000443034:S3L	ENSP00000299663:S3L	S	-	2	0	CLEC4E	8584653	0.990000	0.36364	0.160000	0.22671	0.158000	0.22134	3.520000	0.53465	1.206000	0.43276	0.591000	0.81541	TCA		0.363	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		36	204	0	0	0	0.769981	0	36	204				
TRIOBP	11078	broad.mit.edu	37	22	38119653	38119653	+	Missense_Mutation	SNP	C	C	G	rs578179660		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:38119653C>G	ENST00000406386.3	+	7	1345	c.1090C>G	c.(1090-1092)Ccc>Gcc	p.P364A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	364					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCAGGACAACCCCCAAACTTC	0.572																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1090-1092)Ccc>Gcc		TRIO and F-actin binding protein							126.0	135.0	132.0					22																	38119653		1879	4111	5990	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119653C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1090C>G	22.37:g.38119653C>G	ENSP00000384312:p.Pro364Ala		Somatic				RP1-37E16.12_ENST00000455236.1_RNA	p.P364A	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	Q9H2D6	TARA_HUMAN			7	1345	+	Melanoma(58;0.0574)		364					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1090C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526869	0.44969	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24538	1.85	4.2	0.511	0.16989	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.29913	N	0.823409	B	0.21225	0.053	B	0.18561	0.022	T	0.17592	-1.0364	9	0.72032	D	0.01	.	8.2638	0.31801	0.1708:0.5206:0.3086:0.0	.	364	Q9H2D6	TARA_HUMAN	A	364	ENSP00000384312:P364A	ENSP00000384312:P364A	P	+	1	0	TRIOBP	36449599	0.000000	0.05858	0.001000	0.08648	0.890000	0.51754	-0.705000	0.05052	-0.026000	0.13895	0.400000	0.26472	CCC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			36	183	0	0	0	0.812448	0	36	183				
MICU3	286097	broad.mit.edu	37	8	16948087	16948087	+	Silent	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:16948087T>A	ENST00000318063.5	+	8	924	c.882T>A	c.(880-882)acT>acA	p.T294T		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	294						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										ATTCTCCTACTAATAGTGTAT	0.328																																						ENST00000318063.5																			0											c.(880-882)acT>acA		mitochondrial calcium uptake family, member 3							219.0	225.0	223.0					8																	16948087		2203	4299	6502	SO:0001819	synonymous_variant	286097							g.chr8:16948087T>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.882T>A	8.37:g.16948087T>A			Somatic					p.T294T	NM_181723.2	NP_859074.1	WXS	Illumina GAIIx	Phase_I					8	924	+								Q8IYZ3	Silent	SNP	ENST00000318063.5	37	c.882T>A	CCDS5999.1																																																																																				0.328	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		13	462	0	0	0	0.457914	0	13	462				
ZFAND4	93550	broad.mit.edu	37	10	46159260	46159260	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:46159260T>C	ENST00000344646.5	-	0	129				ZFAND4_ENST00000374366.3_De_novo_Start_OutOfFrame|ZFAND4_ENST00000335258.7_De_novo_Start_OutOfFrame|ZFAND4_ENST00000374371.2_De_novo_Start_OutOfFrame	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding (GO:0008270)										ATTGGTAATATATATTGTTGT	0.303																																						ENST00000374366.3																			0													zinc finger, AN1-type domain 4																																						93550						zinc ion binding	g.chr10:46159260T>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.-87A>G	10.37:g.46159260T>C			Somatic				ZFAND4_ENST00000374371.2_De_novo_Start_OutOfFrame|ZFAND4_ENST00000335258.7_De_novo_Start_OutOfFrame|ZFAND4_ENST00000344646.5_De_novo_Start_OutOfFrame				WXS	Illumina GAIIx	Phase_I	Q86XD8	ANUB1_HUMAN			0	55	-								A8K8V4|B2RAX2|Q5VVY5	Translation_Start_Site	SNP	ENST00000344646.5	37		CCDS7214.1																																																																																				0.303	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		2	15	0	0	0	0.115264	0	2	15				
GAREM	64762	broad.mit.edu	37	18	29890226	29890226	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr18:29890226C>T	ENST00000269209.6	-	3	326	c.323G>A	c.(322-324)aGt>aAt	p.S108N	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.S108N			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	108	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CTCCTCCACACTGTTGAAATA	0.418																																						ENST00000399218.4																			0											c.(322-324)aGt>aAt		GRB2 associated, regulator of MAPK1							244.0	210.0	221.0					18																	29890226		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29890226C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.323G>A	18.37:g.29890226C>T	ENSP00000269209:p.Ser108Asn		Somatic				GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000269209.6_Missense_Mutation_p.S108N	p.S108N	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1	WXS	Illumina GAIIx	Phase_I					3	378	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.323G>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200007	0.94997	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.19105	2.17;2.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.961	D;D	0.83275	0.996;0.956	T	0.52480	-0.8570	10	0.87932	D	0	-16.913	19.9625	0.97256	0.0:1.0:0.0:0.0	.	108;108	Q9H706;Q9H706-3	FA59A_HUMAN;.	N	108	ENSP00000382165:S108N;ENSP00000269209:S108N	ENSP00000269209:S108N	S	-	2	0	FAM59A	28144224	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.420000	0.80191	2.726000	0.93360	0.655000	0.94253	AGT		0.418	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		6	290	0	0	0	0.217242	0	6	290				
ISOC1	51015	broad.mit.edu	37	5	128448671	128448671	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:128448671T>A	ENST00000173527.5	+	5	890	c.874T>A	c.(874-876)Tcg>Acg	p.S292T		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	292						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGCTCCAGAGTCGGGTCTGCT	0.468																																						ENST00000173527.5																			0				kidney(2)|lung(7)	9						c.(874-876)Tcg>Acg		isochorismatase domain containing 1							108.0	103.0	105.0					5																	128448671		1872	4104	5976	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128448671T>A	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.874T>A	5.37:g.128448671T>A	ENSP00000173527:p.Ser292Thr		Somatic					p.S292T	NM_016048.2	NP_057132.2	WXS	Illumina GAIIx	Phase_I	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	5	890	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	292					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.874T>A	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366359	0.41902	.	.	ENSG00000066583	ENST00000173527	.	.	.	4.93	4.93	0.64822	Isochorismatase-like (1);	0.000000	0.64402	D	0.000008	T	0.41442	0.1159	N	0.17723	0.515	0.45733	D	0.998632	B	0.29432	0.244	B	0.26517	0.07	T	0.29336	-1.0015	8	.	.	.	-14.3436	15.0593	0.71939	0.0:0.0:0.0:1.0	.	292	Q96CN7	ISOC1_HUMAN	T	292	.	.	S	+	1	0	ISOC1	128476570	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.816000	0.62642	2.194000	0.70268	0.533000	0.62120	TCG		0.468	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		38	183	0	0	0	0.834066	0	38	183				
SMU1	55234	broad.mit.edu	37	9	33071759	33071759	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:33071759C>G	ENST00000397149.3	-	3	419	c.369G>C	c.(367-369)agG>agC	p.R123S	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	123						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CAAAGTAAGACCTGGCCAAAA	0.378																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(367-369)agG>agC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							113.0	95.0	101.0					9																	33071759		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33071759C>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.369G>C	9.37:g.33071759C>G	ENSP00000380336:p.Arg123Ser		Somatic				SMU1_ENST00000536631.1_Intron	p.R123S	NM_018225.2	NP_060695.2	WXS	Illumina GAIIx	Phase_I	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	3	419	-			123					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.369G>C	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710639	0.48517	.	.	ENSG00000122692	ENST00000397149	T	0.49432	0.78	5.47	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.80332	2.49	0.80722	D	1	P;P	0.38020	0.615;0.615	B;B	0.38378	0.272;0.272	T	0.34279	-0.9835	10	0.36615	T	0.2	-28.0995	5.7055	0.17905	0.0:0.5419:0.0:0.4581	.	123;123	A0MNN4;Q2TAY7	.;SMU1_HUMAN	S	123	ENSP00000380336:R123S	ENSP00000380336:R123S	R	-	3	2	SMU1	33061759	0.418000	0.25440	1.000000	0.80357	0.996000	0.88848	-0.279000	0.08479	0.774000	0.33427	0.591000	0.81541	AGG		0.378	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		36	134	0	0	0	0.819951	0	36	134				
DCSTAMP	81501	broad.mit.edu	37	8	105361635	105361635	+	Silent	SNP	G	G	A	rs553927963		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:105361635G>A	ENST00000297581.2	+	2	904	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	285					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTTTCTGGCCGACTCCTAAAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19782	0.0		0.0	False		,,,				2504	0.001					ENST00000297581.2																			0											c.(853-855)ccG>ccA		dendrocyte expressed seven transmembrane protein							99.0	106.0	103.0					8																	105361635		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361635G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.855G>A	8.37:g.105361635G>A			Somatic				DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	p.P285P	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	Q9H295	TM7S4_HUMAN			2	904	+			285					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.855G>A	CCDS6301.1																																																																																				0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		36	203	0	0	0	0.796494	0	36	203				
C5AR1	728	broad.mit.edu	37	19	47823040	47823040	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:47823040C>G	ENST00000355085.3	+	2	28	c.6C>G	c.(4-6)gaC>gaG	p.D2E		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	2			D -> N (in dbSNP:rs4467185). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1847994, ECO:0000269|PubMed:2007135, ECO:0000269|PubMed:8383526, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCCCTTAGGACTCCTTCAATT	0.537																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(4-6)gaC>gaG		complement component 5a receptor 1							97.0	89.0	92.0					19																	47823040		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823040C>G		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.6C>G	19.37:g.47823040C>G	ENSP00000347197:p.Asp2Glu		Somatic					p.D2E	NM_001736.3	NP_001727.1	WXS	Illumina GAIIx	Phase_I	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	28	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	2		D -> N (in dbSNP:rs4467185).				Missense_Mutation	SNP	ENST00000355085.3	37	c.6C>G	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545218	0.27652	.	.	ENSG00000197405	ENST00000355085	T	0.37411	1.2	3.56	-3.56	0.04626	.	10.915400	0.00357	N	0.000023	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.22208	-1.0223	10	0.06625	T	0.88	.	5.812	0.18471	0.0:0.1973:0.5118:0.2909	.	2	P21730	C5AR_HUMAN	E	2	ENSP00000347197:D2E	ENSP00000347197:D2E	D	+	3	2	C5AR1	52514880	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.663000	0.00849	-0.363000	0.08101	-0.373000	0.07131	GAC		0.537	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		8	117	0	0	0	0.335167	0	8	117				
RPRD2	23248	broad.mit.edu	37	1	150445505	150445505	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:150445505G>T	ENST00000369068.4	+	11	4085	c.4081G>T	c.(4081-4083)Ggc>Tgc	p.G1361C	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.G1335C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1361	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACGGCCCTGGCCTTAGCCG	0.647																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4003-4005)Ggc>Tgc		regulation of nuclear pre-mRNA domain containing 2							30.0	34.0	33.0					1																	150445505		1929	4116	6045	SO:0001583	missense	23248						protein binding	g.chr1:150445505G>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4081G>T	1.37:g.150445505G>T	ENSP00000358064:p.Gly1361Cys		Somatic				RPRD2_ENST00000369068.4_Missense_Mutation_p.G1361C|RPRD2_ENST00000492220.1_3'UTR	p.G1335C			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			10	4068	+			1361			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.4003G>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779485	0.49891	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.48201	0.83;0.82	4.43	4.43	0.53597	.	0.283430	0.30374	N	0.009768	T	0.26376	0.0644	L	0.27053	0.805	0.80722	D	1	D;D	0.61697	0.983;0.99	B;P	0.50192	0.431;0.634	T	0.27536	-1.0071	10	0.72032	D	0.01	-7.8799	4.6558	0.12617	0.1767:0.1939:0.6295:0.0	.	1361;1335	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	C	1335;1361	ENSP00000383785:G1335C;ENSP00000358064:G1361C	ENSP00000358064:G1361C	G	+	1	0	RPRD2	148712129	0.798000	0.28890	1.000000	0.80357	0.989000	0.77384	0.894000	0.28350	2.289000	0.77006	0.650000	0.86243	GGC		0.647	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		15	64	1	0	3.45872e-05	0.500413	3.82601e-05	15	64				
L3MBTL2	83746	broad.mit.edu	37	22	41613163	41613163	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:41613163A>G	ENST00000216237.5	+	5	715	c.557A>G	c.(556-558)aAg>aGg	p.K186R	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	186					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGTTCCTGAAGGATCACAGT	0.632																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(556-558)aAg>aGg		l(3)mbt-like 2 (Drosophila)							84.0	74.0	78.0					22																	41613163		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41613163A>G	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.557A>G	22.37:g.41613163A>G	ENSP00000216237:p.Lys186Arg		Somatic				RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	p.K186R	NM_031488.4	NP_113676.2	WXS	Illumina GAIIx	Phase_I	Q969R5	LMBL2_HUMAN			5	715	+			186					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.557A>G	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126709	0.56721	.	.	ENSG00000100395	ENST00000216237	T	0.18174	2.23	5.25	5.25	0.73442	.	0.740465	0.13868	N	0.357189	T	0.13030	0.0316	N	0.24115	0.695	0.36132	D	0.846218	B;B	0.19331	0.035;0.006	B;B	0.19391	0.025;0.01	T	0.14615	-1.0466	10	0.31617	T	0.26	.	11.8161	0.52211	0.8536:0.1464:0.0:0.0	.	186;186	Q969R5-3;Q969R5	.;LMBL2_HUMAN	R	186	ENSP00000216237:K186R	ENSP00000216237:K186R	K	+	2	0	L3MBTL2	39943109	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.254000	0.58798	2.288000	0.76882	0.533000	0.62120	AAG		0.632	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		26	102	0	0	0	0.729181	0	26	102				
EDRF1	26098	broad.mit.edu	37	10	127422205	127422205	+	Splice_Site	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:127422205A>T	ENST00000356792.4	+	11	1510	c.1278A>T	c.(1276-1278)gcA>gcT	p.A426A	C10orf137_ENST00000337623.3_Splice_Site_p.A392A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTTTTCAGCAAGTGGCAGCG	0.368																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.e10-1		chromosome 10 open reading frame 137							99.0	99.0	99.0					10																	127422205		2203	4300	6503	SO:0001630	splice_region_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127422205A>T																												ENST00000356792.4:c.1277-1A>T	10.37:g.127422205A>T			Somatic				C10orf137_ENST00000356792.4_Splice_Site_p.A426_splice	p.A392_splice	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			10	1281	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	426					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	37	c.1174_splice	CCDS55733.1																																																																																				0.368	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Silent	15	129	0	0	0	0.500413	0	15	129				
FRY	10129	broad.mit.edu	37	13	32811616	32811616	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr13:32811616G>A	ENST00000380250.3	+	44	6407	c.5911G>A	c.(5911-5913)Gca>Aca	p.A1971T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1971						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGCAACACCGCAACTGCCGA	0.537																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5911-5913)Gca>Aca		furry homolog (Drosophila)							60.0	69.0	66.0					13																	32811616		2020	4189	6209	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811616G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5911G>A	13.37:g.32811616G>A	ENSP00000369600:p.Ala1971Thr		Somatic					p.A1971T	NM_023037.2	NP_075463.2	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6407	+		Lung SC(185;0.0271)	1971					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5911G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023983	0.19433	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21734	1.99	5.65	-5.39	0.02664	.	0.703225	0.13908	N	0.354457	T	0.09774	0.0240	N	0.11427	0.14	0.23936	N	0.996414	B	0.06786	0.001	B	0.01281	0.0	T	0.22173	-1.0224	10	0.23302	T	0.38	.	15.1608	0.72782	0.3067:0.0:0.6933:0.0	.	1971	Q5TBA9	FRY_HUMAN	T	1971;808	ENSP00000369600:A1971T	ENSP00000369600:A1971T	A	+	1	0	FRY	31709616	0.044000	0.20184	0.000000	0.03702	0.005000	0.04900	0.435000	0.21510	-1.087000	0.03081	-0.768000	0.03414	GCA		0.537	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		3	47	0	0	0	0.115264	0	3	47				
ACAP1	9744	broad.mit.edu	37	17	7246852	7246852	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:7246852C>T	ENST00000158762.3	+	6	705	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	167	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGGTACCGGGGACGGGC	0.657																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(499-501)Cgg>Tgg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							45.0	53.0	50.0					17																	7246852		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7246852C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.499C>T	17.37:g.7246852C>T	ENSP00000158762:p.Arg167Trp		Somatic				ACAP1_ENST00000573893.1_3'UTR	p.R167W	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			6	705	+			167			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.499C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857557	0.51376	.	.	ENSG00000072818	ENST00000158762	T	0.04454	3.62	5.13	5.13	0.70059	.	0.206544	0.38778	N	0.001574	T	0.08980	0.0222	M	0.62088	1.915	0.80722	D	1	D	0.54397	0.966	P	0.45474	0.482	T	0.00901	-1.1521	10	0.87932	D	0	.	11.535	0.50633	0.1789:0.8211:0.0:0.0	.	167	Q15027	ACAP1_HUMAN	W	167	ENSP00000158762:R167W	ENSP00000158762:R167W	R	+	1	2	ACAP1	7187576	0.996000	0.38824	1.000000	0.80357	0.348000	0.29142	1.054000	0.30455	2.571000	0.86741	0.563000	0.77884	CGG		0.657	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		13	72	0	0	0	0.435327	0	13	72				
MYO1B	4430	broad.mit.edu	37	2	192141693	192141693	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:192141693A>G	ENST00000392318.3	+	2	319	c.72A>G	c.(70-72)gaA>gaG	p.E24E	MYO1B_ENST00000392316.1_Silent_p.E24E|MYO1B_ENST00000304164.4_Silent_p.E24E|MYO1B_ENST00000339514.4_Silent_p.E24E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	24	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCTTTTAGAACCTCTCAATG	0.438																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(70-72)gaA>gaG		myosin IB							121.0	116.0	118.0					2																	192141693		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192141693A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.72A>G	2.37:g.192141693A>G			Somatic				MYO1B_ENST00000339514.4_Silent_p.E24E|MYO1B_ENST00000392316.1_Silent_p.E24E|MYO1B_ENST00000304164.4_Silent_p.E24E	p.E24E	NM_001130158.1	NP_001123630.1	WXS	Illumina GAIIx	Phase_I	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		2	319	+			24			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.72A>G	CCDS46477.1																																																																																				0.438	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		33	195	0	0	0	0.760397	0	33	195				
LRRIQ1	84125	broad.mit.edu	37	12	85460535	85460535	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:85460535A>T	ENST00000393217.2	+	10	2615	c.2554A>T	c.(2554-2556)Att>Ttt	p.I852F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	852										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAAACCATATTGAGGCTAT	0.299																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2554-2556)Att>Ttt		leucine-rich repeats and IQ motif containing 1							90.0	89.0	90.0					12																	85460535		2202	4297	6499	SO:0001583	missense	84125							g.chr12:85460535A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2554A>T	12.37:g.85460535A>T	ENSP00000376910:p.Ile852Phe		Somatic					p.I852F	NM_001079910.1	NP_001073379.1	WXS	Illumina GAIIx	Phase_I	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	10	2615	+			852					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2554A>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947745	0.73787	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.16324	2.35	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.37461	0.1004	L	0.50993	1.605	0.45554	D	0.998505	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.10337	-1.0634	10	0.87932	D	0	.	15.7904	0.78357	1.0:0.0:0.0:0.0	.	852;827	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	852;827;852	ENSP00000376910:I852F	ENSP00000256007:I852F	I	+	1	0	LRRIQ1	83984666	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	6.937000	0.75898	2.193000	0.70182	0.460000	0.39030	ATT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		20	102	0	0	0	0.624587	0	20	102				
TSC22D3	1831	broad.mit.edu	37	X	106957762	106957762	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:106957762C>G	ENST00000372397.2	-	3	715	c.392G>C	c.(391-393)gGt>gCt	p.G131A	TSC22D3_ENST00000506081.1_Missense_Mutation_p.G197A|TSC22D3_ENST00000372382.4_Missense_Mutation_p.G107A|TSC22D3_ENST00000372390.4_Missense_Mutation_p.G74A|TSC22D3_ENST00000514426.1_Missense_Mutation_p.G129A|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G197A|TSC22D3_ENST00000315660.4_Missense_Mutation_p.G197A|TSC22D3_ENST00000372383.4_Missense_Mutation_p.G197A	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	131					body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						CACCGCAGAACCACCAGGGGC	0.557																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(589-591)gGt>gCt		TSC22 domain family, member 3							42.0	40.0	41.0					X																	106957762		2203	4300	6503	SO:0001583	missense	1831						sequence-specific DNA binding transcription factor activity	g.chrX:106957762C>G	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.392G>C	X.37:g.106957762C>G	ENSP00000361474:p.Gly131Ala		Somatic				TSC22D3_ENST00000315660.4_Missense_Mutation_p.G197A|TSC22D3_ENST00000372382.4_Missense_Mutation_p.G107A|TSC22D3_ENST00000372397.2_Missense_Mutation_p.G131A|TSC22D3_ENST00000506081.1_Missense_Mutation_p.G197A|TSC22D3_ENST00000514426.1_Missense_Mutation_p.G129A|TSC22D3_ENST00000372390.4_Missense_Mutation_p.G74A|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G197A	p.G197A	NM_198057.2	NP_932174.1	WXS	Illumina GAIIx	Phase_I	Q99576	T22D3_HUMAN			3	957	-			131					Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	c.590G>C	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283702	0.40394	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426	.	.	.	5.52	4.66	0.58398	.	0.097409	0.64402	D	0.000001	T	0.65407	0.2688	L	0.53249	1.67	0.47407	D	0.999413	D;B	0.64830	0.994;0.001	P;B	0.60682	0.878;0.001	T	0.62177	-0.6909	9	0.28530	T	0.3	.	11.1848	0.48648	0.0:0.9084:0.0:0.0916	.	197;131	Q99576-3;Q99576	.;T22D3_HUMAN	A	74;131;197;197;197;176;107;197;129	.	ENSP00000314655:G197A	G	-	2	0	TSC22D3	106844418	1.000000	0.71417	0.913000	0.36048	0.901000	0.52897	4.608000	0.61141	1.224000	0.43551	0.600000	0.82982	GGT		0.557	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		19	35	0	0	0	0.557998	0	19	35				
SYT6	148281	broad.mit.edu	37	1	114680517	114680517	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:114680517G>C	ENST00000610222.1	-	3	817	c.671C>G	c.(670-672)tCt>tGt	p.S224C	SYT6_ENST00000393296.1_Missense_Mutation_p.S224C|SYT6_ENST00000609117.1_Missense_Mutation_p.S139C|SYT6_ENST00000369547.1_Missense_Mutation_p.S139C|SYT6_ENST00000607941.1_Missense_Mutation_p.S139C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	224					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGCCTCAGACTTGGCATC	0.567																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(670-672)tCt>tGt		synaptotagmin VI							135.0	115.0	122.0					1																	114680517		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680517G>C		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.671C>G	1.37:g.114680517G>C	ENSP00000476396:p.Ser224Cys		Somatic				SYT6_ENST00000369547.1_Missense_Mutation_p.S139C	p.S224C			WXS	Illumina GAIIx	Phase_I	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	748	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	224					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.671C>G		.	.	.	.	.	.	.	.	.	.	G	16.15	3.040257	0.55003	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.56	4.58	0.56647	C2 calcium/lipid-binding domain, CaLB (1);	0.273795	0.39475	N	0.001345	T	0.03959	0.0111	L	0.42245	1.32	0.41501	D	0.98828	B	0.06786	0.001	B	0.08055	0.003	T	0.11665	-1.0578	10	0.62326	D	0.03	.	11.1105	0.48230	0.0:0.0:0.5918:0.4082	.	224	Q5T7P8	SYT6_HUMAN	C	139;224;139;224	ENSP00000358560:S139C;ENSP00000376974:S224C;ENSP00000358559:S139C;ENSP00000358558:S224C	ENSP00000358558:S224C	S	-	2	0	SYT6	114482040	1.000000	0.71417	0.919000	0.36401	0.989000	0.77384	4.703000	0.61824	2.620000	0.88729	0.655000	0.94253	TCT		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		23	96	0	0	0	0.667858	0	23	96				
DGKE	8526	broad.mit.edu	37	17	54939989	54939989	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:54939989C>G	ENST00000284061.3	+	12	1721	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	514					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGAAGTGCTCCATGATGCCA	0.438																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1540-1542)tCc>tGc		diacylglycerol kinase, epsilon 64kDa							31.0	29.0	30.0					17																	54939989		2202	4300	6502	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54939989C>G	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1541C>G	17.37:g.54939989C>G	ENSP00000284061:p.Ser514Cys		Somatic					p.S514C	NM_003647.2	NP_003638.1	WXS	Illumina GAIIx	Phase_I	P52429	DGKE_HUMAN			12	1721	+	Breast(9;3.59e-07)		514					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1541C>G	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804888	0.90623	.	.	ENSG00000153933	ENST00000284061	T	0.47177	0.85	5.8	5.8	0.92144	Diacylglycerol kinase, accessory domain (2);	0.053371	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48877	1.53	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.64415	-0.6413	10	0.62326	D	0.03	.	20.1103	0.97910	0.0:1.0:0.0:0.0	.	514	P52429	DGKE_HUMAN	C	514	ENSP00000284061:S514C	ENSP00000284061:S514C	S	+	2	0	DGKE	52294988	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	7.372000	0.79612	2.746000	0.94184	0.644000	0.83932	TCC		0.438	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		3	24	0	0	0	0.115264	0	3	24				
FUS	2521	broad.mit.edu	37	16	31196376	31196376	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:31196376G>A	ENST00000254108.7	+	6	745	c.640G>A	c.(640-642)Gga>Aga	p.G214R	FUS_ENST00000380244.3_Missense_Mutation_p.G213R|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Missense_Mutation_p.G214R	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	214	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCAGGACCGTGGAggccgcgg	0.652			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(640-642)Gga>Aga		fused in sarcoma							39.0	32.0	34.0					16																	31196376		2197	4300	6497	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31196376G>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.640G>A	16.37:g.31196376G>A	ENSP00000254108:p.Gly214Arg		Somatic				FUS_ENST00000380244.3_Missense_Mutation_p.G213R|FUS_ENST00000568685.1_Missense_Mutation_p.G214R	p.G214R	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	WXS	Illumina GAIIx	Phase_I	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	6	745	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	214			Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.640G>A	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897380	0.17686	.	.	ENSG00000089280	ENST00000254108	D	0.99282	-5.68	5.89	5.89	0.94794	.	0.284524	0.32314	N	0.006262	D	0.97766	0.9267	L	0.54323	1.7	0.58432	D	0.999998	B;B;B;B	0.23735	0.037;0.063;0.037;0.09	B;B;B;B	0.25614	0.028;0.062;0.028;0.028	D	0.96444	0.9329	10	0.16420	T	0.52	-0.4857	13.0448	0.58920	0.077:0.0:0.923:0.0	.	214;213;214;212	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	R	214	ENSP00000254108:G214R	ENSP00000254108:G214R	G	+	1	0	FUS	31103877	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	3.729000	0.54999	2.783000	0.95769	0.655000	0.94253	GGA		0.652	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		3	16	0	0	0	0.184627	0	3	16				
STOX1	219736	broad.mit.edu	37	10	70645316	70645316	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:70645316G>A	ENST00000298596.6	+	3	1847	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	STOX1_ENST00000399169.4_Silent_p.Q588Q|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.Q478Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	588						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCTCAACAGAGCATGTTGC	0.393																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1762-1764)caG>caA		storkhead box 1							130.0	116.0	121.0					10																	70645316		1918	4118	6036	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645316G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1764G>A	10.37:g.70645316G>A			Somatic				STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.Q588Q|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.Q478Q	p.Q588Q	NM_152709.4	NP_689922.3	WXS	Illumina GAIIx	Phase_I	Q6ZVD7	STOX1_HUMAN			3	1847	+			588					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.1764G>A	CCDS41535.1																																																																																				0.393	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		4	184	0	0	0	0.150653	0	4	184				
MAPKAPK2	9261	broad.mit.edu	37	1	206905036	206905036	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:206905036C>A	ENST00000367103.3	+	8	1137	c.944C>A	c.(943-945)aCc>aAc	p.T315N	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.T315N|MAPKAPK2_ENST00000479009.1_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CAGAGAATGACCATCACCGAG	0.562																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(943-945)aCc>aAc		mitogen-activated protein kinase-activated protein kinase 2							138.0	137.0	137.0					1																	206905036		2203	4300	6503	SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206905036C>A	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.944C>A	1.37:g.206905036C>A	ENSP00000356070:p.Thr315Asn		Somatic				MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.T315N|MAPKAPK2_ENST00000479009.1_3'UTR	p.T315N	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	WXS	Illumina GAIIx	Phase_I	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		8	1137	+	Breast(84;0.183)		315			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.944C>A	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831139	0.91036	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.56156	0.1966	L	0.42529	1.33	0.80722	D	1	B;P	0.41524	0.096;0.753	B;P	0.47044	0.155;0.535	T	0.60601	-0.7231	9	0.72032	D	0.01	-29.3292	17.1386	0.86747	0.0:1.0:0.0:0.0	.	315;315	P49137;P49137-2	MAPK2_HUMAN;.	N	315	ENSP00000294981:T315N;ENSP00000356070:T315N	ENSP00000294981:T315N	T	+	2	0	MAPKAPK2	204971659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.704000	0.84595	2.391000	0.81399	0.561000	0.74099	ACC		0.562	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		46	211	1	0	1.39843e-22	0.870114	1.73073e-22	46	211				
KIF20B	9585	broad.mit.edu	37	10	91514386	91514386	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:91514386T>C	ENST00000371728.3	+	26	4524	c.4459T>C	c.(4459-4461)Tat>Cat	p.Y1487H	KIF20B_ENST00000394289.2_Missense_Mutation_p.Y1487H|KIF20B_ENST00000260753.4_Missense_Mutation_p.Y1447H|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.Y1517H	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1487					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGAAAAAATATGCTGAGGA	0.318																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4549-4551)Tat>Cat		kinesin family member 20B							78.0	82.0	81.0					10																	91514386		2203	4296	6499	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91514386T>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4459T>C	10.37:g.91514386T>C	ENSP00000360793:p.Tyr1487His		Somatic				KIF20B_ENST00000260753.4_Missense_Mutation_p.Y1447H|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.Y1487H|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y1487H	p.Y1517H			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			26	4621	+			1487					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.4549T>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.992312	0.74703	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.83	3.52	0.40303	.	0.158492	0.29924	N	0.010847	T	0.48003	0.1476	L	0.60455	1.87	0.32504	N	0.538475	B;B	0.27140	0.105;0.169	B;B	0.28553	0.042;0.091	T	0.56613	-0.7950	10	0.66056	D	0.02	-7.9847	9.5591	0.39357	0.0:0.1423:0.0:0.8577	.	1487;1447	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	H	1447;1517;1487;1487	ENSP00000260753:Y1447H;ENSP00000411545:Y1517H;ENSP00000377830:Y1487H;ENSP00000360793:Y1487H	ENSP00000260753:Y1447H	Y	+	1	0	KIF20B	91504366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.888000	0.63164	0.487000	0.27698	0.533000	0.62120	TAT		0.318	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		3	118	0	0	0	0.150653	0	3	118				
SLC24A4	123041	broad.mit.edu	37	14	92915516	92915516	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:92915516A>G	ENST00000532405.1	+	10	1062	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	SLC24A4_ENST00000298877.1_Missense_Mutation_p.Y262C|SLC24A4_ENST00000393265.2_Missense_Mutation_p.Y215C|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000531433.1_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	279					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AATGATTTCTATGACGGTAGC	0.498																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(835-837)tAt>tGt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							132.0	98.0	109.0					14																	92915516		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92915516A>G	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.836A>G	14.37:g.92915516A>G	ENSP00000431840:p.Tyr279Cys		Somatic				SLC24A4_ENST00000298877.1_Missense_Mutation_p.Y262C|SLC24A4_ENST00000393265.2_Missense_Mutation_p.Y215C|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000351924.5_Intron	p.Y279C			WXS	Illumina GAIIx	Phase_I	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	10	1062	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	279					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.836A>G	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905719	0.33628	.	.	ENSG00000140090	ENST00000393265;ENST00000532405;ENST00000298877;ENST00000318079	T;T;T	0.67345	-0.26;0.17;-0.25	5.49	0.294	0.15747	.	1.322690	0.04388	N	0.361872	T	0.47911	0.1471	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11012	-1.0605	10	0.37606	T	0.19	.	10.1215	0.42623	0.7808:0.0:0.2192:0.0	.	279	Q8NFF2	NCKX4_HUMAN	C	215;279;262;131	ENSP00000376948:Y215C;ENSP00000431840:Y279C;ENSP00000298877:Y262C	ENSP00000298877:Y262C	Y	+	2	0	SLC24A4	91985269	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	0.825000	0.27393	0.078000	0.16900	-0.366000	0.07423	TAT		0.498	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		3	57	0	0	0	0.150653	0	3	57				
DARS2	55157	broad.mit.edu	37	1	173826679	173826679	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:173826679G>C	ENST00000361951.4	+	17	2501	c.1774G>C	c.(1774-1776)Gtc>Ctc	p.V592L	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Missense_Mutation_p.V137L	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	592					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GATATGCCTTGTCACTGGATC	0.408																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1774-1776)Gtc>Ctc		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						130.0	121.0	124.0					1																	173826679		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173826679G>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1774G>C	1.37:g.173826679G>C	ENSP00000355086:p.Val592Leu		Somatic				DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Missense_Mutation_p.V137L	p.V592L	NM_018122.4	NP_060592.2	WXS	Illumina GAIIx	Phase_I	Q6PI48	SYDM_HUMAN			17	2501	+			592						Missense_Mutation	SNP	ENST00000361951.4	37	c.1774G>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	5.234	0.228682	0.09916	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	T;T	0.74526	-0.85;-0.85	5.78	-2.85	0.05734	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.375222	0.30383	N	0.009759	T	0.13756	0.0333	N	0.00268	-1.735	0.38770	D	0.954536	B	0.09022	0.002	B	0.16722	0.016	T	0.26780	-1.0093	10	0.07990	T	0.79	-3.9032	12.5896	0.56436	0.68:0.0:0.32:0.0	.	592	Q6PI48	SYDM_HUMAN	L	592;137	ENSP00000355086:V592L;ENSP00000239457:V137L	ENSP00000239457:V137L	V	+	1	0	DARS2	172093302	0.995000	0.38212	0.972000	0.41901	0.906000	0.53458	0.615000	0.24329	-0.324000	0.08589	-0.145000	0.13849	GTC		0.408	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		3	185	0	0	0	0.115264	0	3	185				
MALAT1	378938	broad.mit.edu	37	11	65273446	65273446	+	lincRNA	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:65273446G>C	ENST00000534336.1	+	0	8214					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACTTGGCCAAGCTAGCATCTT	0.428																																						ENST00000534336.1																			0																				94.0	91.0	92.0					11																	65273446		874	1988	2862			378938							g.chr11:65273446G>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273446G>C			Somatic						NR_002819.2		WXS	Illumina GAIIx	Phase_I					0	8214	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.428	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		23	113	0	0	0	0.654019	0	23	113				
XPO7	23039	broad.mit.edu	37	8	21824497	21824497	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:21824497C>A	ENST00000252512.9	+	2	248	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	XPO7_ENST00000433566.4_Missense_Mutation_p.L51I|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Missense_Mutation_p.L50I	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	50	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGCCAGCTACTCCTCGAAAG	0.478																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(148-150)Ctc>Atc		exportin 7							81.0	81.0	81.0					8																	21824497		2078	4234	6312	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21824497C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.148C>A	8.37:g.21824497C>A	ENSP00000252512:p.Leu50Ile		Somatic				XPO7_ENST00000433566.4_Missense_Mutation_p.L51I|XPO7_ENST00000252512.9_Missense_Mutation_p.L50I|XPO7_ENST00000518017.1_3'UTR	p.L50I			WXS	Illumina GAIIx	Phase_I	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	2	250	+			50			Importin N-terminal.		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.148C>A	CCDS47818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115778|4.115778	0.77323|0.77323	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566|ENST00000521303	T;T;T|.	0.64618|.	-0.11;-0.11;-0.11|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59609|.	0.2206|.	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	D;P;P|.	0.71674|.	0.998;0.754;0.865|.	D;P;P|.	0.67382|.	0.951;0.669;0.669|.	T|.	0.54662|.	-0.8260|.	10|.	0.02654|.	T|.	1|.	-12.6768|-12.6768	13.0212|13.0212	0.58789|0.58789	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	51;50;50|.	E7ESC6;E9PEN8;Q9UIA9|.	.;.;XPO7_HUMAN|.	I|X	50;50;51|54	ENSP00000404853:L50I;ENSP00000252512:L50I;ENSP00000410249:L51I|.	ENSP00000252512:L50I|.	L|Y	+|+	1|3	0|2	XPO7|XPO7	21880443|21880443	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.998000|0.998000	0.95712|0.95712	4.025000|4.025000	0.57225|0.57225	2.771000|2.771000	0.95319|0.95319	0.655000|0.655000	0.94253|0.94253	CTC|TAC		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		19	130	1	0	2.89027e-11	0.624587	3.40833e-11	19	130				
ELAVL3	1995	broad.mit.edu	37	19	11565539	11565539	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:11565539C>T	ENST00000359227.3	-	7	1330	c.906G>A	c.(904-906)caG>caA	p.Q302Q	ELAVL3_ENST00000438662.2_Silent_p.Q295Q	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	302	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCCGAACAGCTGCCACAGCA	0.632																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(904-906)caG>caA		ELAV like neuron-specific RNA binding protein 3							137.0	93.0	108.0					19																	11565539		2203	4300	6503	SO:0001819	synonymous_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565539C>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.906G>A	19.37:g.11565539C>T			Somatic				ELAVL3_ENST00000438662.2_Silent_p.Q295Q	p.Q302Q	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	WXS	Illumina GAIIx	Phase_I	Q14576	ELAV3_HUMAN			7	1330	-			302			RRM 3.		Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	c.906G>A	CCDS32912.1																																																																																				0.632	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		3	79	0	0	0	0.115264	0	3	79				
F13A1	2162	broad.mit.edu	37	6	6225028	6225028	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:6225028G>A	ENST00000264870.3	-	7	1129	c.864C>T	c.(862-864)gtC>gtT	p.V288V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCGATGGGGGGACGCCATAGG	0.507																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(862-864)gtC>gtT		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110.0	104.0	106.0					6																	6225028		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225028G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.864C>T	6.37:g.6225028G>A			Somatic					p.V288V	NM_000129.3	NP_000120.2	WXS	Illumina GAIIx	Phase_I	P00488	F13A_HUMAN			7	1129	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.864C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032865	0.19590	.	.	ENSG00000124491	ENST00000445223	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.36527	D	0.870517	.	.	.	.	.	.	T	0.33599	-0.9862	4	.	.	.	.	6.1462	0.20287	0.346:0.4028:0.1834:0.0678	.	.	.	.	F	5	.	.	S	-	2	0	F13A1	6170027	0.000000	0.05858	0.001000	0.08648	0.963000	0.63663	-2.465000	0.00995	-2.507000	0.00506	0.563000	0.77884	TCC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		4	157	0	0	0	0.184627	0	4	157				
MYH7	4625	broad.mit.edu	37	14	23902427	23902427	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:23902427C>T	ENST00000355349.3	-	4	373	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	71					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCTTCACGGTCACTGTC	0.577																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(211-213)Gtg>Atg		myosin, heavy chain 7, cardiac muscle, beta							193.0	147.0	162.0					14																	23902427		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902427C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.211G>A	14.37:g.23902427C>T	ENSP00000347507:p.Val71Met		Somatic					p.V71M	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	373	-	all_cancers(95;2.54e-05)		71			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.211G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667248	0.47677	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86769	-2.17	3.64	3.64	0.41730	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.93966	0.8068	M	0.93808	3.46	0.58432	D	0.999999	P	0.45957	0.869	P	0.56648	0.803	D	0.95633	0.8691	9	0.66056	D	0.02	.	15.868	0.79080	0.0:1.0:0.0:0.0	.	71	P12883	MYH7_HUMAN	M	71	ENSP00000347507:V71M	ENSP00000347507:V71M	V	-	1	0	MYH7	22972267	1.000000	0.71417	0.989000	0.46669	0.172000	0.22775	4.692000	0.61746	2.029000	0.59856	0.305000	0.20034	GTG		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	85	0	0	0	0.278610	0	7	85				
JMJD6	23210	broad.mit.edu	37	17	74720093	74720093	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:74720093T>G	ENST00000397625.4	-	3	680	c.566A>C	c.(565-567)gAc>gCc	p.D189A	METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.D189A|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.D189A|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	189	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCCAGAGGGTCGATGTGAAT	0.522																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(565-567)gAc>gCc		jumonji domain containing 6							111.0	108.0	109.0					17																	74720093		1942	4144	6086	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74720093T>G	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.566A>C	17.37:g.74720093T>G	ENSP00000380750:p.Asp189Ala		Somatic				JMJD6_ENST00000397625.4_Missense_Mutation_p.D189A|JMJD6_ENST00000585429.1_Missense_Mutation_p.D189A	p.D189A	NM_001081461.1	NP_001074930.1	WXS	Illumina GAIIx	Phase_I	Q6NYC1	JMJD6_HUMAN			3	769	-			189			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.566A>C	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697800	0.88830	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	D;D	0.88124	-2.34;-2.34	5.26	5.26	0.73747	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.044321	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98701	4.305	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.998	D;P;D	0.79108	0.992;0.893;0.954	D	0.98061	1.0393	10	0.87932	D	0	-0.2225	15.1861	0.73002	0.0:0.0:0.0:1.0	.	189;189;189	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	A	189	ENSP00000394085:D189A;ENSP00000380750:D189A	ENSP00000302916:D189A	D	-	2	0	JMJD6	72231688	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.029000	0.88807	1.975000	0.57531	0.523000	0.50628	GAC		0.522	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		4	169	0	0	0	0.150653	0	4	169				
GLRX5	51218	broad.mit.edu	37	14	96010330	96010330	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:96010330C>T	ENST00000331334.4	+	2	839	c.342C>T	c.(340-342)ctC>ctT	p.L114L	GLRX5_ENST00000553672.1_3'UTR	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5	114	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		AAGTGTACCTCAATGGCGAGT	0.453																																						ENST00000331334.4																			0				large_intestine(1)|lung(1)	2						c.(340-342)ctC>ctT		glutaredoxin 5							97.0	97.0	97.0					14																	96010330		2203	4300	6503	SO:0001819	synonymous_variant	51218				cell redox homeostasis|hemopoiesis	mitochondrion	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr14:96010330C>T	AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6		ENST00000331334.4:c.342C>T	14.37:g.96010330C>T			Somatic				GLRX5_ENST00000553672.1_3'UTR	p.L114L	NM_016417.2	NP_057501.2	WXS	Illumina GAIIx	Phase_I	Q86SX6	GLRX5_HUMAN		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)	2	839	+		all_cancers(154;0.135)	114			Glutaredoxin.		Q0X088|Q3YML0|Q86WY3|Q8IZ54	Silent	SNP	ENST00000331334.4	37	c.342C>T	CCDS9936.1																																																																																				0.453	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414550.1			35	128	0	0	0	0.819951	0	35	128				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C			Somatic						NR_024241.1		WXS	Illumina GAIIx	Phase_I					0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		6	31	0	0	0	0.278610	0	6	31				
HOXD3	3232	broad.mit.edu	37	2	177033995	177033995	+	Silent	SNP	A	A	C	rs141168805	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:177033995A>C	ENST00000468418.3	+	3	2243	c.153A>C	c.(151-153)ccA>ccC	p.P51P	HOXD3_ENST00000410016.1_Silent_p.P51P|HOXD3_ENST00000249440.3_Silent_p.P51P			P31249	HXD3_HUMAN	homeobox D3	51					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCCCTACCCACCCCCTGCTG	0.587													A|||	517	0.103235	0.0356	0.121	5008	,	,		14050	0.2192		0.162	False		,,,				2504	0.002					ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(151-153)ccA>ccC		homeobox D3		A		0,4406		0,0,2203	86.0	87.0	87.0		153	4.3	1.0	2	dbSNP_134	87	19,8581	9.1+/-34.3	0,19,4281	no	coding-synonymous	HOXD3	NM_006898.4		0,19,6484	CC,CA,AA		0.2209,0.0,0.1461		51/433	177033995	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033995A>C		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.153A>C	2.37:g.177033995A>C			Somatic				HOXD3_ENST00000249440.3_Silent_p.P51P|HOXD3_ENST00000410016.1_Silent_p.P51P	p.P51P			WXS	Illumina GAIIx	Phase_I	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2243	+			51					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.153A>C	CCDS2270.1																																																																																				0.587	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	41	0	0	0	0.592651	0	6	41				
TST	7263	broad.mit.edu	37	22	37407193	37407193	+	Missense_Mutation	SNP	C	C	T	rs144544206		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:37407193C>T	ENST00000403892.3	-	2	1503	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.V257M	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	257	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCCAAGGCCACGTGGCAGGCG	0.647																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(769-771)Gtg>Atg		thiosulfate sulfurtransferase (rhodanese)		C	MET/VAL	0,4406		0,0,2203	47.0	38.0	41.0		769	-1.5	0.1	22	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TST	NM_003312.4	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	257/298	37407193	2,13004	2203	4300	6503	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407193C>T	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.769G>A	22.37:g.37407193C>T	ENSP00000385828:p.Val257Met		Somatic				TST_ENST00000249042.3_Missense_Mutation_p.V257M	p.V257M	NM_001270483.1	NP_001257412.1	WXS	Illumina GAIIx	Phase_I	Q16762	THTR_HUMAN			2	1503	-			257			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.769G>A	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948702	0.18356	0.0	2.33E-4	ENSG00000128311	ENST00000403892;ENST00000249042	T;T	0.46063	0.88;0.88	5.08	-1.52	0.08637	Rhodanese-like (5);	0.492152	0.22200	N	0.063243	T	0.38427	0.1040	M	0.83953	2.67	0.24179	N	0.995597	P	0.37330	0.59	B	0.33121	0.158	T	0.33574	-0.9863	10	0.87932	D	0	-1.2904	7.0479	0.25056	0.0:0.4094:0.1269:0.4637	.	257	Q16762	THTR_HUMAN	M	257	ENSP00000385828:V257M;ENSP00000249042:V257M	ENSP00000249042:V257M	V	-	1	0	TST	35737139	0.991000	0.36638	0.091000	0.20842	0.081000	0.17604	0.284000	0.18864	-0.558000	0.06118	-0.345000	0.07892	GTG		0.647	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			3	46	0	0	0	0.115264	0	3	46				
DNAJC10	54431	broad.mit.edu	37	2	183584762	183584762	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:183584762T>A	ENST00000264065.7	+	4	648	c.233T>A	c.(232-234)tTa>tAa	p.L78*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.L78*|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	78	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGCGATTTTTTAAAAATAAAT	0.299																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(232-234)tTa>tAa		DnaJ (Hsp40) homolog, subfamily C, member 10							52.0	54.0	53.0					2																	183584762		2203	4299	6502	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183584762T>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.233T>A	2.37:g.183584762T>A	ENSP00000264065:p.Leu78*		Somatic				DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.L78*|DNAJC10_ENST00000469118.1_3'UTR	p.L78*	NM_018981.1	NP_061854.1	WXS	Illumina GAIIx	Phase_I	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		4	648	+			78			J.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.233T>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	T	36	5.939388	0.97128	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	.	.	.	5.76	2.05	0.26809	.	0.159226	0.42420	D	0.000711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.149	0.25599	0.0:0.1297:0.1237:0.7466	.	.	.	.	X	78	.	ENSP00000264065:L78X	L	+	2	0	DNAJC10	183293007	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.164000	0.71885	0.104000	0.17725	0.460000	0.39030	TTA		0.299	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		4	110	0	0	0	0.150653	0	4	110				
PPP3CC	5533	broad.mit.edu	37	8	22397011	22397011	+	Splice_Site	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:22397011G>T	ENST00000240139.5	+	13	1678	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	PPP3CC_ENST00000289963.8_Intron|PPP3CC_ENST00000397775.3_Splice_Site_p.A460S|RP11-582J16.4_ENST00000514980.1_RNA	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	451					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GGCCCGGGAAGGTATGGCCAT	0.423																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e13+1		protein phosphatase 3, catalytic subunit, gamma isozyme							238.0	218.0	225.0					8																	22397011		2203	4300	6503	SO:0001630	splice_region_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22397011G>T		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1351+1G>T	8.37:g.22397011G>T			Somatic				PPP3CC_ENST00000397775.3_Splice_Site_p.A460_splice|PPP3CC_ENST00000289963.8_Intron	p.A451_splice	NM_005605.4	NP_005596.2	WXS	Illumina GAIIx	Phase_I	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	13	1678	+		Prostate(55;0.104)	451					B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37	c.1351_splice	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941221	0.92526	.	.	ENSG00000120910	ENST00000240139;ENST00000397775	T;T	0.05580	3.42;3.42	5.83	5.83	0.93111	.	0.058491	0.64402	D	0.000002	T	0.12092	0.0294	L	0.34521	1.04	0.58432	D	0.999997	B;P	0.43287	0.244;0.802	B;P	0.49451	0.191;0.611	T	0.01245	-1.1407	10	0.49607	T	0.09	-11.8173	18.8889	0.92391	0.0:0.0:1.0:0.0	.	460;451	B4DRT5;P48454	.;PP2BC_HUMAN	S	451;460	ENSP00000240139:A451S;ENSP00000380878:A460S	ENSP00000240139:A451S	A	+	1	0	PPP3CC	22452956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.030000	0.88816	2.767000	0.95098	0.650000	0.86243	GCC		0.423	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Missense_Mutation	18	116	1	0	2.89027e-11	0.624587	3.40833e-11	18	116				
CCT6B	10693	broad.mit.edu	37	17	33266673	33266673	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:33266673C>A	ENST00000314144.5	-	9	1143	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F|CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	343					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATGTCCCAAGCAATCTACAGT	0.363																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(1027-1029)tGc>tTc		chaperonin containing TCP1, subunit 6B (zeta 2)							112.0	97.0	102.0					17																	33266673		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33266673C>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1028G>T	17.37:g.33266673C>A	ENSP00000327191:p.Cys343Phe		Somatic				CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F|CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F	p.C343F	NM_006584.3	NP_006575.2	WXS	Illumina GAIIx	Phase_I	Q92526	TCPW_HUMAN			9	1143	-		Ovarian(249;0.17)	343					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.1028G>T	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794285	0.31777	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.7	3.57	0.40892	.	0.130780	0.64402	D	0.000001	T	0.79155	0.4398	M	0.89214	3.015	0.49051	D	0.999749	B;P;P	0.42556	0.007;0.598;0.783	B;B;P	0.44422	0.053;0.279;0.449	T	0.76217	-0.3040	10	0.09843	T	0.71	-0.0356	8.8526	0.35210	0.0:0.8577:0.0:0.1423	.	298;306;343	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	F	306;343;298	ENSP00000398044:C306F;ENSP00000327191:C343F;ENSP00000400917:C298F	ENSP00000327191:C343F	C	-	2	0	CCT6B	30290786	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	3.093000	0.50217	1.076000	0.40961	0.563000	0.77884	TGC		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		3	95	1	0	0.115264	0.115264	0.119074	3	95				
GET4	51608	broad.mit.edu	37	7	926213	926213	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:926213G>C	ENST00000265857.3	+	3	336	c.242G>C	c.(241-243)aGt>aCt	p.S81T	RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_Missense_Mutation_p.S28T	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	81					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TAGCAAAACAGTGCAGCAGAC	0.562																																						ENST00000407192.1																			0				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(82-84)aGt>aCt		golgi to ER traffic protein 4 homolog (S. cerevisiae)							144.0	135.0	138.0					7																	926213		2203	4300	6503	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:926213G>C	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.242G>C	7.37:g.926213G>C	ENSP00000265857:p.Ser81Thr		Somatic				GET4_ENST00000265857.3_Missense_Mutation_p.S81T	p.S28T			WXS	Illumina GAIIx	Phase_I	Q7L5D6	GET4_HUMAN			2	2600	+			81					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.83G>C	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.580177	0.86645	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.76316	-1.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90196	0.4253	10	0.51188	T	0.08	-12.5024	19.5658	0.95391	0.0:0.0:1.0:0.0	.	81	Q7L5D6	GET4_HUMAN	T	81;35;28;93	ENSP00000265857:S81T	ENSP00000265857:S81T	S	+	2	0	GET4	892739	1.000000	0.71417	0.981000	0.43875	0.640000	0.38277	9.540000	0.98080	2.619000	0.88677	0.651000	0.88453	AGT		0.562	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		27	148	0	0	0	0.740014	0	27	148				
NIPBL	25836	broad.mit.edu	37	5	37048673	37048673	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:37048673T>A	ENST00000282516.8	+	39	7158	c.6659T>A	c.(6658-6660)tTa>tAa	p.L2220*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2220*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2220					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAATATTTTATCTGATAAG	0.348																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6658-6660)tTa>tAa		Nipped-B homolog (Drosophila)							37.0	44.0	42.0					5																	37048673		2177	4274	6451	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048673T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6659T>A	5.37:g.37048673T>A	ENSP00000282516:p.Leu2220*		Somatic				NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2220*	p.L2220*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina GAIIx	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7158	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2220					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.6659T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	49	15.968916	0.99850	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2966	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	X	2220	.	ENSP00000282516:L2220X	L	+	2	0	NIPBL	37084430	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.669000	0.83911	2.323000	0.78572	0.528000	0.53228	TTA		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		33	164	0	0	0	0.760397	0	33	164				
KIF15	56992	broad.mit.edu	37	3	44839366	44839366	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:44839366A>T	ENST00000326047.4	+	10	1165	c.1016A>T	c.(1015-1017)aAt>aTt	p.N339I	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	339	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATAATTGCAAATGTTCATCCT	0.378																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(1015-1017)aAt>aTt		kinesin family member 15							103.0	98.0	100.0					3																	44839366		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44839366A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1016A>T	3.37:g.44839366A>T	ENSP00000324020:p.Asn339Ile		Somatic					p.N339I	NM_020242.2	NP_064627.1	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	10	1165	+			339					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1016A>T	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638828	0.87760	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.73575	-0.76;-0.76	5.37	5.37	0.77165	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000038	D	0.89508	0.6735	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92084	0.5675	10	0.66056	D	0.02	.	15.3768	0.74610	1.0:0.0:0.0:0.0	.	339	Q9NS87	KIF15_HUMAN	I	339;111;338	ENSP00000324020:N339I;ENSP00000425499:N111I	ENSP00000324020:N339I	N	+	2	0	KIF15	44814370	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	8.962000	0.93254	2.038000	0.60285	0.379000	0.24179	AAT		0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			3	113	0	0	0	0.217242	0	3	113				
POLR1A	25885	broad.mit.edu	37	2	86265841	86265841	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:86265841A>C	ENST00000263857.6	-	27	4394	c.4016T>G	c.(4015-4017)cTg>cGg	p.L1339R	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1339R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1339					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATGAAGCGCAGGATGTCCTC	0.522																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4015-4017)cTg>cGg		polymerase (RNA) I polypeptide A, 194kDa							77.0	73.0	74.0					2																	86265841		2013	4170	6183	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86265841A>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4016T>G	2.37:g.86265841A>C	ENSP00000263857:p.Leu1339Arg		Somatic				POLR1A_ENST00000409681.1_Missense_Mutation_p.L1339R	p.L1339R			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			27	4394	-			1339					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4016T>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646222	0.67358	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69685	-0.42;-0.42	5.8	5.8	0.92144	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.64402	D	0.000001	D	0.83778	0.5328	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86513	0.1811	10	0.87932	D	0	-17.263	16.1502	0.81611	1.0:0.0:0.0:0.0	.	705;1339	B7Z8X7;O95602	.;RPA1_HUMAN	R	1339	ENSP00000263857:L1339R;ENSP00000386300:L1339R	ENSP00000263857:L1339R	L	-	2	0	POLR1A	86119352	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.807000	0.91935	2.224000	0.72417	0.533000	0.62120	CTG		0.522	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		5	50	0	0	0	0.184627	0	5	50				
AP2B1	163	broad.mit.edu	37	17	33935330	33935330	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:33935330A>T	ENST00000262325.7	+	5	1002	c.449A>T	c.(448-450)gAt>gTt	p.D150V	AP2B1_ENST00000592545.1_Missense_Mutation_p.D112V|AP2B1_ENST00000312678.8_Missense_Mutation_p.D150V|AP2B1_ENST00000538556.1_Missense_Mutation_p.D93V|AP2B1_ENST00000589344.1_Missense_Mutation_p.D150V|AP2B1_ENST00000537622.2_Missense_Mutation_p.D150V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	150					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAACTCCATGATATCAATGCC	0.433																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(448-450)gAt>gTt		adaptor-related protein complex 2, beta 1 subunit							105.0	108.0	107.0					17																	33935330		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33935330A>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.449A>T	17.37:g.33935330A>T	ENSP00000262325:p.Asp150Val		Somatic				AP2B1_ENST00000312678.8_Missense_Mutation_p.D150V|AP2B1_ENST00000589344.1_Missense_Mutation_p.D150V|AP2B1_ENST00000592545.1_Missense_Mutation_p.D112V|AP2B1_ENST00000538556.1_Missense_Mutation_p.D93V|AP2B1_ENST00000537622.2_Missense_Mutation_p.D150V	p.D150V	NM_001282.2	NP_001273.1	WXS	Illumina GAIIx	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	5	1002	+		Ovarian(249;0.17)	150					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.449A>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574458	0.65878	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.41	5.41	0.78517	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044686	0.85682	N	0.000000	T	0.55481	0.1923	M	0.86502	2.82	0.80722	D	1	D;B;B	0.58620	0.983;0.001;0.0	D;B;B	0.67900	0.954;0.012;0.001	T	0.64028	-0.6503	10	0.87932	D	0	-1.8548	14.6718	0.68951	1.0:0.0:0.0:0.0	.	112;150;150	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	V	150;150;93;150	ENSP00000262325:D150V;ENSP00000314414:D150V;ENSP00000440563:D93V;ENSP00000437413:D150V	ENSP00000262325:D150V	D	+	2	0	AP2B1	30959443	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.239000	0.95389	2.060000	0.61445	0.529000	0.55759	GAT		0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			41	191	0	0	0	0.853193	0	41	191				
OR5K1	26339	broad.mit.edu	37	3	98188528	98188528	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:98188528G>A	ENST00000332650.5	+	1	205	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATCTATCTGATCACCGTGG	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(106-108)ctG>ctA		olfactory receptor, family 5, subfamily K, member 1							151.0	151.0	151.0					3																	98188528		2203	4297	6500	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188528G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.108G>A	3.37:g.98188528G>A			Somatic					p.L36L	NM_001004736.2	NP_001004736.2	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			1	205	+			36					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.108G>A	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			57	244	0	0	0	0.870114	0	57	244				
MUC4	4585	broad.mit.edu	37	3	195509378	195509378	+	Missense_Mutation	SNP	G	G	C	rs199889138		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:195509378G>C	ENST00000463781.3	-	2	9532	c.9073C>G	c.(9073-9075)Ctt>Gtt	p.L3025V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3025V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACATGAAGAGGGGTGGCG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(9073-9075)Ctt>Gtt		mucin 4, cell surface associated							25.0	19.0	21.0					3																	195509378		663	1544	2207	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509378G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9073C>G	3.37:g.195509378G>C	ENSP00000417498:p.Leu3025Val		Somatic				MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3025V|MUC4_ENST00000349607.4_Intron	p.L3025V	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9532	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	773					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.9073C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.681	-0.065503	0.07273	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.5;1.41	.	.	.	.	.	.	.	.	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.27872	-1.0061	7	.	.	.	.	2.745	0.05264	0.0:0.4482:0.2987:0.2531	.	2897	E7ESK3	.	V	3025	ENSP00000417498:L3025V;ENSP00000420243:L3025V	.	L	-	1	0	MUC4	196994157	0.073000	0.21202	0.014000	0.15608	0.000000	0.00434	0.211000	0.17474	-0.893000	0.03930	0.000000	0.15137	CTT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	2	0	0	0	0.115264	0	3	2				
DMGDH	29958	broad.mit.edu	37	5	78347129	78347129	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:78347129A>G	ENST00000255189.3	-	5	754	c.726T>C	c.(724-726)aaT>aaC	p.N242N	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	242					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCACAATTCTATTTGCTCTCA	0.393																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(724-726)aaT>aaC		dimethylglycine dehydrogenase							162.0	166.0	165.0					5																	78347129		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78347129A>G	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.726T>C	5.37:g.78347129A>G			Somatic				DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	p.N242N	NM_013391.2	NP_037523.2	WXS	Illumina GAIIx	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	5	754	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	242					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.726T>C	CCDS4044.1																																																																																				0.393	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		56	329	0	0	0	0.870114	0	56	329				
FAM8A1	51439	broad.mit.edu	37	6	17608559	17608559	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:17608559G>T	ENST00000259963.3	+	5	1286	c.1231G>T	c.(1231-1233)Ggg>Tgg	p.G411W		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	411						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AAAAAGAAATGGGGTCAGATG	0.393																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1231-1233)Ggg>Tgg		family with sequence similarity 8, member A1							67.0	63.0	64.0					6																	17608559		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17608559G>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1231G>T	6.37:g.17608559G>T	ENSP00000259963:p.Gly411Trp		Somatic					p.G411W	NM_016255.2	NP_057339.1	WXS	Illumina GAIIx	Phase_I	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1286	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	411					B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1231G>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414413	0.62511	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	.	0.101521	0.64402	D	0.000002	T	0.44603	0.1301	N	0.08118	0	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	T	0.59080	-0.7521	9	0.87932	D	0	-12.1159	13.9133	0.63881	0.0728:0.0:0.9272:0.0	.	411	Q9UBU6	FA8A1_HUMAN	W	161;411	.	ENSP00000259963:G411W	G	+	1	0	FAM8A1	17716538	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.264000	0.58859	2.652000	0.90054	0.557000	0.71058	GGG		0.393	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			28	144	1	0	2.12542e-12	0.706142	2.57939e-12	28	144				
ANK2	287	broad.mit.edu	37	4	114277003	114277003	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:114277003A>C	ENST00000357077.4	+	38	7282	c.7229A>C	c.(7228-7230)gAa>gCa	p.E2410A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2377A|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2410					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGGGTTAGAACTTGCACTC	0.522																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7228-7230)gAa>gCa		ankyrin 2, neuronal							60.0	61.0	61.0					4																	114277003		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277003A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7229A>C	4.37:g.114277003A>C	ENSP00000349588:p.Glu2410Ala		Somatic				ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2377A|ANK2_ENST00000510275.2_Intron	p.E2410A	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7282	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2377					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7229A>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462735	0.63513	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70282	-0.47;-0.47	6.06	4.88	0.63580	.	0.000000	0.64402	D	0.000018	T	0.80099	0.4561	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.976;0.998	P;D	0.81914	0.626;0.995	T	0.79120	-0.1934	9	.	.	.	.	10.6156	0.45447	0.928:0.0:0.072:0.0	.	2377;2410	Q01484;Q01484-4	ANK2_HUMAN;.	A	2410;2377	ENSP00000349588:E2410A;ENSP00000264366:E2377A	.	E	+	2	0	ANK2	114496452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.928000	0.70088	1.121000	0.41925	0.533000	0.62120	GAA		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	73	0	0	0	0.411799	0	13	73				
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Silent	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:56997884C>A	ENST00000370706.4	+	6	713	c.469C>A	c.(469-471)Cga>Aga	p.R157R	RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Silent_p.R157R|ZNF451_ENST00000357489.3_Silent_p.R157R|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(469-471)Cga>Aga		zinc finger protein 451							100.0	97.0	98.0					6																	56997884		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56997884C>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.469C>A	6.37:g.56997884C>A			Somatic				RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.R157R|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Silent_p.R157R	p.R157R	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	713	+	Lung NSC(77;0.145)		157					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.469C>A	CCDS43477.1																																																																																				0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		4	150	1	0	0.150653	0.150653	0.154358	4	150				
IK	3550	broad.mit.edu	37	5	140038746	140038746	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:140038746T>A	ENST00000417647.2	+	12	1312	c.1173T>A	c.(1171-1173)gaT>gaA	p.D391E		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	391					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTAGATGATGAGGTGAGAT	0.512																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(1171-1173)gaT>gaA		IK cytokine, down-regulator of HLA II							62.0	73.0	70.0					5																	140038746		2099	4237	6336	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140038746T>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1173T>A	5.37:g.140038746T>A	ENSP00000396301:p.Asp391Glu		Somatic					p.D391E	NM_006083.3	NP_006074.2	WXS	Illumina GAIIx	Phase_I	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1312	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	391					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.1173T>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814986	0.32053	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.03	2.62	0.31277	.	0.416515	0.25984	N	0.027046	T	0.28400	0.0702	N	0.10972	0.075	0.38572	D	0.94997	B	0.02656	0.0	B	0.04013	0.001	T	0.06862	-1.0803	9	0.18276	T	0.48	.	8.7045	0.34345	0.0:0.2288:0.0:0.7712	.	391	Q13123	RED_HUMAN	E	391	.	ENSP00000396301:D391E	D	+	3	2	IK	140018930	0.976000	0.34144	1.000000	0.80357	0.962000	0.63368	0.008000	0.13197	0.347000	0.23924	0.533000	0.62120	GAT		0.512	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		6	9	0	0	0	0.217242	0	6	9				
FOXH1	8928	broad.mit.edu	37	8	145700316	145700316	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:145700316C>A	ENST00000377317.4	-	3	981	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	135					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCACGCGCACCTCCGTTCTGC	0.711																																						ENST00000377317.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(403-405)Ggt>Tgt		forkhead box H1							11.0	12.0	12.0					8																	145700316		2181	4266	6447	SO:0001583	missense	8928				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr8:145700316C>A	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.403G>T	8.37:g.145700316C>A	ENSP00000366534:p.Gly135Cys		Somatic				FOXH1_ENST00000525197.1_5'UTR	p.G135C	NM_003923.2	NP_003914.1	WXS	Illumina GAIIx	Phase_I	O75593	FOXH1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	981	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		135					D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	c.403G>T	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988789	0.35131	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.95980	-3.87	4.78	3.88	0.44766	.	0.000000	0.53938	D	0.000043	D	0.95771	0.8624	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.60789	0.879	D	0.90574	0.4524	10	0.46703	T	0.11	-21.6143	12.5865	0.56421	0.0:0.8312:0.1688:0.0	.	135	O75593	FOXH1_HUMAN	C	135;162	ENSP00000366534:G135C	ENSP00000292541:G162C	G	-	1	0	FOXH1	145671124	0.186000	0.23225	0.003000	0.11579	0.041000	0.13682	2.109000	0.41863	0.963000	0.38082	0.462000	0.41574	GGT		0.711	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			4	30	1	0	0.217242	0.217242	0.220775	4	30				
PGM3	5238	broad.mit.edu	37	6	83881749	83881749	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:83881749C>T	ENST00000283977.4	-	10	1155	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	PGM3_ENST00000512866.1_Silent_p.L424L|PGM3_ENST00000513973.1_Silent_p.L424L|PGM3_ENST00000506587.1_Silent_p.L452L					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTTCAATCACCAGCATGTCAG	0.418																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1270-1272)ctG>ctA		phosphoglucomutase 3							123.0	108.0	113.0					6																	83881749		2203	4300	6503	SO:0001819	synonymous_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83881749C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.1029G>A	6.37:g.83881749C>T			Somatic				PGM3_ENST00000512866.1_Silent_p.L424L|PGM3_ENST00000506587.1_Silent_p.L452L|PGM3_ENST00000283977.4_Silent_p.L343L	p.L424L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	WXS	Illumina GAIIx	Phase_I	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	11	1388	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	424						Silent	SNP	ENST00000283977.4	37	c.1272G>A																																																																																					0.418	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		14	86	0	0	0	0.435327	0	14	86				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	126	0	0	0	0.115264	0	3	126				
TAOK2	9344	broad.mit.edu	37	16	29989600	29989600	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:29989600C>T	ENST00000308893.4	+	4	1275	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAAGGAGGTGCGGTTCTTACA	0.577																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(232-234)Cgg>Tgg		TAO kinase 2							229.0	204.0	213.0					16																	29989600		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989600C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.232C>T	16.37:g.29989600C>T	ENSP00000310094:p.Arg78Trp		Somatic				TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	WXS	Illumina GAIIx	Phase_I	Q9UL54	TAOK2_HUMAN			4	1275	+			78			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.232C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206422	0.79127	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.67345	-0.26;-0.26;-0.26	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071573	0.64402	D	0.000018	T	0.80576	0.4649	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;P;D;D	0.76071	0.987;0.904;0.942;0.987	T	0.80795	-0.1223	9	.	.	.	.	12.2952	0.54842	0.2706:0.7294:0.0:0.0	.	262;78;78;78	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	W	78	ENSP00000310094:R78W;ENSP00000440336:R78W;ENSP00000279394:R78W	.	R	+	1	2	TAOK2	29897101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.606000	0.74159	2.736000	0.93811	0.561000	0.74099	CGG		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		6	353	0	0	0	0.278610	0	6	353				
CEP250	11190	broad.mit.edu	37	20	34091340	34091340	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr20:34091340G>A	ENST00000397527.1	+	30	5863	c.5143G>A	c.(5143-5145)Ggc>Agc	p.G1715S	CEP250_ENST00000342580.4_Missense_Mutation_p.G1659S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1715	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAAGGGAAGGGCCCAAGTAA	0.572																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5143-5145)Ggc>Agc		centrosomal protein 250kDa							103.0	99.0	101.0					20																	34091340		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091340G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5143G>A	20.37:g.34091340G>A	ENSP00000380661:p.Gly1715Ser		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.G1659S	p.G1715S	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5863	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1715			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5143G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495339	0.26774	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.39997	3.06;3.06;1.05	4.51	3.52	0.40303	.	0.191193	0.36815	N	0.002390	T	0.19366	0.0465	N	0.12746	0.255	0.23685	N	0.997117	B	0.27997	0.197	B	0.25140	0.058	T	0.12091	-1.0561	10	0.19590	T	0.45	.	4.8247	0.13410	0.5217:0.0:0.4783:0.0	.	1715	Q9BV73	CP250_HUMAN	S	1715;1659;203	ENSP00000380661:G1715S;ENSP00000341541:G1659S;ENSP00000395992:G203S	ENSP00000341541:G1659S	G	+	1	0	CEP250	33554754	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	0.689000	0.25437	0.997000	0.38969	0.455000	0.32223	GGC		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		21	111	0	0	0	0.608945	0	21	111				
OR6C4	341418	broad.mit.edu	37	12	55945275	55945275	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:55945275G>T	ENST00000394256.2	+	1	293	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGAAATAAAGTTATCAGCTT	0.398																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(265-267)Gtt>Ttt		olfactory receptor, family 6, subfamily C, member 4							80.0	86.0	84.0					12																	55945275		2203	4299	6502	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945275G>T	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.265G>T	12.37:g.55945275G>T	ENSP00000377799:p.Val89Phe		Somatic				RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.V89F	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	Q8NGE1	OR6C4_HUMAN			1	293	+			89					A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.265G>T	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181429	0.21787	.	.	ENSG00000179626	ENST00000394256	T	0.00555	6.63	4.78	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	1.123880	0.06848	N	0.796920	T	0.00496	0.0016	L	0.31578	0.945	0.09310	N	1	B	0.23377	0.084	B	0.21546	0.035	T	0.45877	-0.9231	10	0.87932	D	0	.	4.8486	0.13526	0.4053:0.1539:0.4407:0.0	.	89	Q8NGE1	OR6C4_HUMAN	F	89	ENSP00000377799:V89F	ENSP00000377799:V89F	V	+	1	0	OR6C4	54231542	0.000000	0.05858	0.013000	0.15412	0.884000	0.51177	0.676000	0.25247	0.405000	0.25532	-0.182000	0.12963	GTT		0.398	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			14	266	1	0	4.14922e-12	0.500413	4.98704e-12	14	266				
SLC17A8	246213	broad.mit.edu	37	12	100774639	100774639	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:100774639A>T	ENST00000323346.5	+	2	575	c.262A>T	c.(262-264)Att>Ttt	p.I88F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.I88F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	88					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGGATTCTGCATTTCCTTTGG	0.522																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(262-264)Att>Ttt		solute carrier family 17 (vesicular glutamate transporter), member 8							210.0	191.0	197.0					12																	100774639		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774639A>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.262A>T	12.37:g.100774639A>T	ENSP00000316909:p.Ile88Phe		Somatic				SLC17A8_ENST00000392989.3_Missense_Mutation_p.I88F	p.I88F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	WXS	Illumina GAIIx	Phase_I	Q8NDX2	VGLU3_HUMAN			2	575	+			88					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.262A>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814722	0.90790	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59224	0.28;0.28	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	T	0.81444	-0.0930	10	0.66056	D	0.02	.	15.1946	0.73078	1.0:0.0:0.0:0.0	.	88;88	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	F	88	ENSP00000316909:I88F;ENSP00000376715:I88F	ENSP00000316909:I88F	I	+	1	0	SLC17A8	99298770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.210000	0.95106	1.996000	0.58369	0.482000	0.46254	ATT		0.522	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		5	166	0	0	0	0.184627	0	5	166				
MERTK	10461	broad.mit.edu	37	2	112786169	112786169	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:112786169G>A	ENST00000295408.4	+	19	2985	c.2728G>A	c.(2728-2730)Gct>Act	p.A910T	MERTK_ENST00000409780.1_Missense_Mutation_p.A734T|MERTK_ENST00000421804.2_Missense_Mutation_p.A910T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	910					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTCCCCGCGCTGCCATCAG	0.562																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2728-2730)Gct>Act		c-mer proto-oncogene tyrosine kinase							126.0	124.0	125.0					2																	112786169		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786169G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2728G>A	2.37:g.112786169G>A	ENSP00000295408:p.Ala910Thr		Somatic				MERTK_ENST00000421804.2_Missense_Mutation_p.A910T|MERTK_ENST00000409780.1_Missense_Mutation_p.A734T	p.A910T			WXS	Illumina GAIIx	Phase_I	Q12866	MERTK_HUMAN			19	2985	+			910					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2728G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370397	0.05069	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.83755	-0.89;-0.89;-0.88;-1.76	5.47	1.26	0.21427	.	0.264640	0.20012	U	0.101094	T	0.68595	0.3018	L	0.46157	1.445	0.09310	N	1	B	0.22480	0.07	B	0.16722	0.016	T	0.47535	-0.9110	10	0.13470	T	0.59	-0.2223	1.0208	0.01517	0.2395:0.2142:0.349:0.1972	.	910	Q12866	MERTK_HUMAN	T	910;910;734;234	ENSP00000295408:A910T;ENSP00000389152:A910T;ENSP00000387277:A734T;ENSP00000412660:A234T	ENSP00000295408:A910T	A	+	1	0	MERTK	112502640	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.093000	0.11111	0.002000	0.14630	-0.136000	0.14681	GCT		0.562	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			28	132	0	0	0	0.706142	0	28	132				
FAT4	79633	broad.mit.edu	37	4	126411764	126411764	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:126411764C>A	ENST00000394329.3	+	17	13800	c.13787C>A	c.(13786-13788)aCt>aAt	p.T4596N	FAT4_ENST00000335110.5_Missense_Mutation_p.T2837N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4596					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGATGAAACTGATATTCCT	0.498																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13786-13788)aCt>aAt		FAT atypical cadherin 4							86.0	93.0	91.0					4																	126411764		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411764C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13787C>A	4.37:g.126411764C>A	ENSP00000377862:p.Thr4596Asn		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.T2837N	p.T4596N	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			17	13800	+			4596					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13787C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505625	0.44558	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.79;-1.0	4.95	4.04	0.47022	.	0.000000	0.35291	U	0.003320	T	0.75243	0.3823	L	0.36672	1.1	0.53688	D	0.999976	D;D;D	0.64830	0.992;0.994;0.992	P;P;P	0.59115	0.838;0.852;0.838	T	0.71586	-0.4548	10	0.24483	T	0.36	.	13.8274	0.63359	0.0:0.8461:0.1539:0.0	.	2837;4596;4595	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4596;2837	ENSP00000377862:T4596N;ENSP00000335169:T2837N	ENSP00000335169:T2837N	T	+	2	0	FAT4	126631214	1.000000	0.71417	0.925000	0.36789	0.812000	0.45895	5.728000	0.68531	2.275000	0.75901	0.561000	0.74099	ACT		0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	84	1	0	0.00909568	0.150653	0.00963525	4	84				
ZNF226	7769	broad.mit.edu	37	19	44680231	44680231	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:44680231G>A	ENST00000590089.1	+	7	1183	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ZNF226_ENST00000337433.5_Silent_p.Q272Q|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.Q272Q			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	272					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)						Prostate(69;0.0352)|all_neural(266;0.202)				TTCATCAGCAGTTACAATCAG	0.418																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(814-816)caG>caA		zinc finger protein 226							59.0	59.0	59.0					19																	44680231		2021	4215	6236	SO:0001819	synonymous_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680231G>A	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.816G>A	19.37:g.44680231G>A			Somatic				ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.Q272Q|ZNF226_ENST00000337433.5_Silent_p.Q272Q	p.Q272Q			WXS	Illumina GAIIx	Phase_I	Q9NYT6	ZN226_HUMAN			7	1183	+		Prostate(69;0.0352)|all_neural(266;0.202)	272					Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	c.816G>A	CCDS46102.1																																																																																				0.418	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			16	99	0	0	0	0.479597	0	16	99				
ADCY1	107	broad.mit.edu	37	7	45743056	45743056	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:45743056G>A	ENST00000297323.7	+	15	2558	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	846					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCCACGTCGCCCAGCACTT	0.627																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2536-2538)Gcc>Acc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						157.0	132.0	140.0					7																	45743056		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743056G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2536G>A	7.37:g.45743056G>A	ENSP00000297323:p.Ala846Thr		Somatic					p.A846T	NM_021116.2	NP_066939.1	WXS	Illumina GAIIx	Phase_I	Q08828	ADCY1_HUMAN			15	2558	+			846					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2536G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819359	0.90873	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.85484	-1.99	5.03	4.15	0.48705	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.89163	3.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.93236	0.6622	10	0.87932	D	0	.	11.2923	0.49258	0.0886:0.0:0.9114:0.0	.	846	Q08828	ADCY1_HUMAN	T	846	ENSP00000297323:A846T	ENSP00000297323:A846T	A	+	1	0	ADCY1	45709581	1.000000	0.71417	0.881000	0.34555	0.958000	0.62258	9.109000	0.94291	1.345000	0.45676	0.462000	0.41574	GCC		0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		10	36	0	0	0	0.479597	0	10	36				
UBOX5	22888	broad.mit.edu	37	20	3102446	3102446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr20:3102446G>T	ENST00000217173.2	-	3	1310	c.839C>A	c.(838-840)tCa>tAa	p.S280*	UBOX5_ENST00000348031.2_Nonsense_Mutation_p.S280*|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GACCTTGCCTGAGGGCAGCAG	0.577																																						ENST00000217173.2																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(838-840)tCa>tAa		U-box domain containing 5							50.0	46.0	47.0					20																	3102446		2203	4300	6503	SO:0001587	stop_gained	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102446G>T	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.839C>A	20.37:g.3102446G>T	ENSP00000217173:p.Ser280*		Somatic				UBOX5_ENST00000348031.2_Nonsense_Mutation_p.S280*|UBOX5-AS1_ENST00000446537.1_RNA	p.S280*	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	WXS	Illumina GAIIx	Phase_I	O94941	RNF37_HUMAN			3	1310	-			280			U-box.			Nonsense_Mutation	SNP	ENST00000217173.2	37	c.839C>A	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	40	8.027999	0.98619	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	.	.	.	5.42	5.42	0.78866	.	0.126983	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4542	19.2336	0.93849	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000217173:S280X	S	-	2	0	UBOX5	3050446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.274000	0.72587	2.534000	0.85438	0.563000	0.77884	TCA		0.577	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		13	59	1	0	1.49906e-05	0.457914	1.67306e-05	13	59				
FAM124B	79843	broad.mit.edu	37	2	225266290	225266290	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:225266290C>A	ENST00000409685.3	-	1	461	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FAM124B_ENST00000243806.2_Missense_Mutation_p.G66W|FAM124B_ENST00000389874.3_Missense_Mutation_p.G66W	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	66										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACGGACATCCCTGGAAACCGG	0.567																																						ENST00000389874.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(196-198)Ggg>Tgg		family with sequence similarity 124B							59.0	58.0	58.0					2																	225266290		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266290C>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.196G>T	2.37:g.225266290C>A	ENSP00000386895:p.Gly66Trp		Somatic				FAM124B_ENST00000409685.3_Missense_Mutation_p.G66W|FAM124B_ENST00000243806.2_Missense_Mutation_p.G66W	p.G66W	NM_024785.2	NP_079061.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	421	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	66					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.196G>T	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837077	0.50951	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.48836	0.8;0.8;0.8	5.49	5.49	0.81192	.	0.106944	0.64402	D	0.000004	T	0.70842	0.3270	M	0.75447	2.3	0.47737	D	0.999505	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73792	-0.3871	10	0.87932	D	0	-33.904	19.3638	0.94453	0.0:1.0:0.0:0.0	.	66;66	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	W	66	ENSP00000374524:G66W;ENSP00000386895:G66W;ENSP00000243806:G66W	ENSP00000243806:G66W	G	-	1	0	FAM124B	224974534	0.619000	0.27059	0.992000	0.48379	0.021000	0.10359	1.507000	0.35758	2.570000	0.86706	0.655000	0.94253	GGG		0.567	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		3	70	1	0	0.004672	0.115264	0.00503448	3	70				
THSD7A	221981	broad.mit.edu	37	7	11675781	11675781	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:11675781T>C	ENST00000423059.4	-	2	1249	c.998A>G	c.(997-999)aAg>aGg	p.K333R	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	333					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTCCCCGTCTTGTTAATGCA	0.378										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(997-999)aAg>aGg		thrombospondin, type I, domain containing 7A							147.0	142.0	144.0					7																	11675781		1890	4121	6011	SO:0001583	missense	221981					integral to membrane		g.chr7:11675781T>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.998A>G	7.37:g.11675781T>C	ENSP00000406482:p.Lys333Arg	HNSCC(18;0.044)	Somatic					p.K333R	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1249	-			333						Missense_Mutation	SNP	ENST00000423059.4	37	c.998A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	2.308	-0.358551	0.05138	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57752	0.38	5.62	3.28	0.37604	.	0.185331	0.53938	N	0.000043	T	0.19287	0.0463	N	0.01668	-0.77	0.24861	N	0.992345	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	10	0.14656	T	0.56	.	5.3963	0.16271	0.0:0.3941:0.0:0.6059	.	333	Q9UPZ6	THS7A_HUMAN	R	333	ENSP00000406482:K333R	ENSP00000262042:K333R	K	-	2	0	THSD7A	11642306	0.996000	0.38824	0.998000	0.56505	0.407000	0.30961	0.367000	0.20382	1.080000	0.41073	0.477000	0.44152	AAG		0.378	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	248	0	0	0	0.307466	0	7	248				
GUCY2C	2984	broad.mit.edu	37	12	14804433	14804433	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:14804433C>G	ENST00000261170.3	-	15	1754	c.1618G>C	c.(1618-1620)Gac>Cac	p.D540H		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGTAATAGTCAATCTGAAGC	0.388																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1618-1620)Gac>Cac		guanylate cyclase 2C (heat stable enterotoxin receptor)							96.0	84.0	88.0					12																	14804433		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804433C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1618G>C	12.37:g.14804433C>G	ENSP00000261170:p.Asp540His		Somatic					p.D540H	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	P25092	GUC2C_HUMAN			15	1754	-			540			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1618G>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575848	0.86645	.	.	ENSG00000070019	ENST00000261170	T	0.63096	-0.02	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73990	-0.3808	10	0.72032	D	0.01	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	540	P25092	GUC2C_HUMAN	H	540	ENSP00000261170:D540H	ENSP00000261170:D540H	D	-	1	0	GUCY2C	14695700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GAC		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			3	129	0	0	0	0.184627	0	3	129				
NDST4	64579	broad.mit.edu	37	4	115767144	115767144	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:115767144G>T	ENST00000264363.2	-	10	2628	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	650	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGGGAAAAAGTCCATATACC	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1948-1950)gaC>gaA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							63.0	61.0	62.0					4																	115767144		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767144G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1950C>A	4.37:g.115767144G>T	ENSP00000264363:p.Asp650Glu		Somatic					p.D650E	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2628	-		Ovarian(17;0.156)	650			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1950C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	5.918	0.353465	0.11182	.	.	ENSG00000138653	ENST00000264363	T	0.53206	0.63	5.73	0.432	0.16529	Sulfotransferase domain (1);	0.113744	0.64402	D	0.000004	T	0.21674	0.0522	N	0.20445	0.575	0.44890	D	0.997909	B	0.02656	0.0	B	0.14578	0.011	T	0.05354	-1.0890	10	0.13470	T	0.59	.	0.8027	0.01078	0.3072:0.1197:0.3297:0.2435	.	650	Q9H3R1	NDST4_HUMAN	E	650	ENSP00000264363:D650E	ENSP00000264363:D650E	D	-	3	2	NDST4	115986593	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.441000	0.21611	0.350000	0.24002	0.655000	0.94253	GAC		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		16	59	1	0	6.72482e-11	0.479597	7.8561e-11	16	59				
F13A1	2162	broad.mit.edu	37	6	6152120	6152120	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:6152120T>G	ENST00000264870.3	-	14	2236	c.1971A>C	c.(1969-1971)ttA>ttC	p.L657F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	657					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGTTTCTTTTAAAGGATTGG	0.468																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1969-1971)ttA>ttC		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						92.0	84.0	87.0					6																	6152120		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6152120T>G	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1971A>C	6.37:g.6152120T>G	ENSP00000264870:p.Leu657Phe		Somatic					p.L657F	NM_000129.3	NP_000120.2	WXS	Illumina GAIIx	Phase_I	P00488	F13A_HUMAN			14	2236	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	657					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1971A>C	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	6.644	0.487248	0.12641	.	.	ENSG00000124491	ENST00000264870	D	0.86097	-2.07	5.37	-3.21	0.05140	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.065536	0.64402	D	0.000010	T	0.63082	0.2481	M	0.66939	2.045	0.29401	N	0.861954	B	0.25521	0.128	B	0.26202	0.067	T	0.50841	-0.8780	10	0.45353	T	0.12	.	2.2702	0.04088	0.1177:0.2924:0.1212:0.4686	.	657	P00488	F13A_HUMAN	F	657	ENSP00000264870:L657F	ENSP00000264870:L657F	L	-	3	2	F13A1	6097119	0.998000	0.40836	0.486000	0.27416	0.119000	0.20118	0.333000	0.19768	-0.115000	0.11915	-0.297000	0.09499	TTA		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		25	116	0	0	0	0.667858	0	25	116				
KCNS2	3788	broad.mit.edu	37	8	99440853	99440853	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:99440853G>A	ENST00000287042.4	+	2	996	c.646G>A	c.(646-648)Gac>Aac	p.D216N	KCNS2_ENST00000521839.1_Missense_Mutation_p.D216N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	216					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAAATCCCTGACAGCCAGGG	0.567																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(646-648)Gac>Aac		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							88.0	89.0	88.0					8																	99440853		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440853G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.646G>A	8.37:g.99440853G>A	ENSP00000287042:p.Asp216Asn		Somatic				KCNS2_ENST00000521839.1_Missense_Mutation_p.D216N	p.D216N	NM_020697.2	NP_065748.1	WXS	Illumina GAIIx	Phase_I	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	996	+	Breast(36;2.4e-06)		216					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.646G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731836	0.48939	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	L	0.42008	1.315	0.49483	D	0.999799	B	0.12630	0.006	B	0.08055	0.003	D	0.89613	0.3843	10	0.44086	T	0.13	.	14.5035	0.67737	0.0697:0.0:0.9303:0.0	.	216	Q9ULS6	KCNS2_HUMAN	N	216	ENSP00000287042:D216N;ENSP00000430712:D216N	ENSP00000287042:D216N	D	+	1	0	KCNS2	99510029	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	5.719000	0.68462	2.816000	0.96949	0.563000	0.77884	GAC		0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		32	123	0	0	0	0.750413	0	32	123				
ITPK1	3705	broad.mit.edu	37	14	93483124	93483124	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:93483124T>G	ENST00000267615.6	-	4	316	c.143A>C	c.(142-144)gAg>gCg	p.E48A	ITPK1_ENST00000556603.2_Missense_Mutation_p.E48A|ITPK1_ENST00000354313.3_Missense_Mutation_p.E48A|ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	48					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCCCTGCTCCTCGATCGGCCG	0.582																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(142-144)gAg>gCg		inositol-tetrakisphosphate 1-kinase							109.0	90.0	96.0					14																	93483124		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483124T>G	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.143A>C	14.37:g.93483124T>G	ENSP00000267615:p.Glu48Ala		Somatic				ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.E48A|ITPK1_ENST00000556603.2_Missense_Mutation_p.E48A|ITPK1_ENST00000556954.1_5'UTR	p.E48A			WXS	Illumina GAIIx	Phase_I	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	316	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	48					Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.143A>C	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843464	0.71488	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.1	5.1	0.69264	.	0.050375	0.85682	D	0.000000	T	0.67627	0.2913	L	0.45137	1.4	0.80722	D	1	D;P	0.63046	0.992;0.556	D;B	0.79108	0.992;0.233	T	0.64871	-0.6305	9	0.30078	T	0.28	-2.9331	14.5742	0.68235	0.0:0.0:0.0:1.0	.	48;48	Q13572;Q13572-2	ITPK1_HUMAN;.	A	48;78;48;48;48;66;48;48;48	.	ENSP00000267615:E48A	E	-	2	0	ITPK1	92552877	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	7.326000	0.79133	1.902000	0.55061	0.459000	0.35465	GAG		0.582	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		10	54	0	0	0	0.387290	0	10	54				
ZNF609	23060	broad.mit.edu	37	15	64967791	64967791	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:64967791C>A	ENST00000326648.3	+	4	2866	c.2738C>A	c.(2737-2739)cCc>cAc	p.P913H		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	913						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCTGAACCCCAGCAGCCAG	0.507																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2737-2739)cCc>cAc		zinc finger protein 609							83.0	89.0	87.0					15																	64967791		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967791C>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2738C>A	15.37:g.64967791C>A	ENSP00000316527:p.Pro913His		Somatic					p.P913H	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	2866	+			913					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2738C>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193204	0.58017	.	.	ENSG00000180357	ENST00000326648	T	0.54866	0.55	5.95	5.95	0.96441	.	0.245827	0.49305	D	0.000153	T	0.53722	0.1814	L	0.29908	0.895	0.44221	D	0.997058	P	0.40875	0.731	P	0.46479	0.518	T	0.51100	-0.8748	10	0.49607	T	0.09	-3.127	20.3854	0.98941	0.0:1.0:0.0:0.0	.	913	O15014	ZN609_HUMAN	H	913	ENSP00000316527:P913H	ENSP00000316527:P913H	P	+	2	0	ZNF609	62754844	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	5.872000	0.69636	2.825000	0.97269	0.655000	0.94253	CCC		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		19	152	1	0	8.10497e-08	0.592651	9.29469e-08	19	152				
GTF3C1	2975	broad.mit.edu	37	16	27523215	27523215	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:27523215G>A	ENST00000356183.4	-	7	996	c.981C>T	c.(979-981)gaC>gaT	p.D327D	GTF3C1_ENST00000561623.1_Silent_p.D327D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	327					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAACCATGACGTCGGTCCCTG	0.542																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(979-981)gaC>gaT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							131.0	103.0	113.0					16																	27523215		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27523215G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.981C>T	16.37:g.27523215G>A			Somatic				GTF3C1_ENST00000561623.1_Silent_p.D327D	p.D327D	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			7	996	-			327					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.981C>T	CCDS32414.1																																																																																				0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	86	0	0	0	0.150653	0	4	86				
QSER1	79832	broad.mit.edu	37	11	32953290	32953290	+	Splice_Site	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:32953290C>A	ENST00000399302.2	+	4	434	c.99C>A	c.(97-99)ggC>ggA	p.G33G	QSER1_ENST00000527788.1_Splice_Site_p.G33G|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	33										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCATAGGCATGCATTCCT	0.408																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.e4-1		glutamine and serine rich 1							114.0	111.0	112.0					11																	32953290		1974	4156	6130	SO:0001630	splice_region_variant	79832							g.chr11:32953290C>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.98-1C>A	11.37:g.32953290C>A			Somatic				QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_Splice_Site_p.G33_splice	p.G33_splice	NM_001076786.1	NP_001070254.1	WXS	Illumina GAIIx	Phase_I	Q2KHR3	QSER1_HUMAN			4	434	+	Breast(20;0.158)		33					Q6ZU30|Q6ZUR5	Splice_Site	SNP	ENST00000399302.2	37	c.97_splice	CCDS41631.1																																																																																				0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	Silent	24	116	1	0	2.39556e-15	0.639603	2.93574e-15	24	116				
C10orf62	414157	broad.mit.edu	37	10	99349705	99349705	+	Silent	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:99349705A>T	ENST00000370640.3	+	1	256	c.51A>T	c.(49-51)ccA>ccT	p.P17P	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	17										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CTGAGTGTCCATCAGACAAGG	0.507																																						ENST00000370640.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(49-51)ccA>ccT		chromosome 10 open reading frame 62							98.0	98.0	98.0					10																	99349705		2203	4300	6503	SO:0001819	synonymous_variant	414157						protein binding	g.chr10:99349705A>T		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.51A>T	10.37:g.99349705A>T			Somatic				PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron	p.P17P	NM_001009997.2	NP_001009997.2	WXS	Illumina GAIIx	Phase_I	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	1	256	+		Colorectal(252;0.162)	17					Q49A70|Q8N3Y6	Silent	SNP	ENST00000370640.3	37	c.51A>T	CCDS31261.1																																																																																				0.507	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		20	108	0	0	0	0.624587	0	20	108				
KEL	3792	broad.mit.edu	37	7	142658018	142658018	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:142658018G>A	ENST00000355265.2	-	4	871	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	133					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCTCACCCAGTATTCTCCGA	0.488																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(397-399)Ctg>Ttg		Kell blood group, metallo-endopeptidase							189.0	193.0	192.0					7																	142658018		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658018G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.397C>T	7.37:g.142658018G>A			Somatic				KEL_ENST00000479768.2_5'UTR	p.L133L	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			4	871	-	Melanoma(164;0.059)		133					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.397C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415774	0.01136	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.84	0.908	0.19326	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.45330	D	0.998329	.	.	.	.	.	.	T	0.46005	-0.9222	4	.	.	.	.	8.4134	0.32657	0.4142:0.0:0.5858:0.0	.	.	.	.	I	143	.	.	T	-	2	0	KEL	142368140	0.023000	0.18921	0.056000	0.19401	0.003000	0.03518	-0.048000	0.11944	0.102000	0.17638	-0.749000	0.03505	ACT		0.488	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		42	205	0	0	0	0.870114	0	42	205				
FRZB	2487	broad.mit.edu	37	2	183703339	183703339	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:183703339T>C	ENST00000295113.4	-	4	1204	c.595A>G	c.(595-597)Att>Gtt	p.I199V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	199	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAGCCCGAATGACTGGGATA	0.373																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(595-597)Att>Gtt		frizzled-related protein							83.0	82.0	82.0					2																	183703339		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183703339T>C	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.595A>G	2.37:g.183703339T>C	ENSP00000295113:p.Ile199Val		Somatic					p.I199V	NM_001463.3	NP_001454.2	WXS	Illumina GAIIx	Phase_I	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		4	1204	-			199			NTR.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.595A>G	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013872	0.75161	.	.	ENSG00000162998	ENST00000295113	T	0.31510	1.49	5.05	5.05	0.67936	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.54323	1.7	0.80722	D	1	D	0.61080	0.989	D	0.65323	0.934	T	0.33420	-0.9869	10	0.30078	T	0.28	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	199	Q92765	SFRP3_HUMAN	V	199	ENSP00000295113:I199V	ENSP00000295113:I199V	I	-	1	0	FRZB	183411584	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.975000	0.88055	1.904000	0.55121	0.455000	0.32223	ATT		0.373	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		26	122	0	0	0	0.706142	0	26	122				
CKAP5	9793	broad.mit.edu	37	11	46772146	46772146	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:46772146T>C	ENST00000529230.1	-	41	5522	c.5476A>G	c.(5476-5478)Aag>Gag	p.K1826E	CKAP5_ENST00000415402.1_Missense_Mutation_p.K1833E|CKAP5_ENST00000312055.5_Missense_Mutation_p.K1766E|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1766E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1826					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACTTTGGCCTTTGATGATTTT	0.343																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5476-5478)Aag>Gag		cytoskeleton associated protein 5							81.0	79.0	80.0					11																	46772146		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46772146T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5476A>G	11.37:g.46772146T>C	ENSP00000432768:p.Lys1826Glu		Somatic				CKAP5_ENST00000312055.5_Missense_Mutation_p.K1766E|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1766E|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1833E	p.K1826E			WXS	Illumina GAIIx	Phase_I	Q14008	CKAP5_HUMAN			41	5522	-			1826					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5476A>G	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.975796|3.975796	0.74360|0.74360	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.42900|.	1.02;1.04;0.96;0.96|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53481|0.53481	0.1799|0.1799	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.62365|.	0.991;0.986;0.976|.	P;P;P|.	0.56563|.	0.801;0.737;0.551|.	T|T	0.50242|0.50242	-0.8851|-0.8851	10|6	0.16896|.	T|.	0.51|.	-12.9835|-12.9835	16.1988|16.1988	0.82053|0.82053	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1833;1766;1826|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	E|R	1826;1833;1766;1766|64	ENSP00000432768:K1826E;ENSP00000395302:K1833E;ENSP00000310227:K1766E;ENSP00000346566:K1766E|.	ENSP00000310227:K1766E|.	K|K	-|-	1|2	0|0	CKAP5|CKAP5	46728722|46728722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.482000|7.482000	0.81143|0.81143	2.230000|2.230000	0.72887|0.72887	0.454000|0.454000	0.30748|0.30748	AAG|AAA		0.343	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		3	60	0	0	0	0.184627	0	3	60				
IGHV3-72	28410	broad.mit.edu	37	14	107199018	107199018	+	RNA	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:107199018T>C	ENST00000433072.2	-	0	350									immunoglobulin heavy variable 3-72																		TCTCTTGAGATGGTGAATCTG	0.512																																						ENST00000433072.2																			0																				151.0	148.0	149.0					14																	107199018		1944	4148	6092			28410							g.chr14:107199018T>C	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107199018T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	350	-									RNA	SNP	ENST00000433072.2	37																																																																																						0.512	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		4	146	0	0	0	0.184627	0	4	146				
PHKA1	5255	broad.mit.edu	37	X	71830970	71830970	+	Nonsense_Mutation	SNP	C	C	A	rs200422936		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:71830970C>A	ENST00000373542.4	-	22	2593	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E753*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E812*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.E753*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E812*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	812	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATACAGCTCGGTAAGAAGC	0.433																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2257-2259)Gag>Tag		phosphorylase kinase, alpha 1 (muscle)							89.0	76.0	80.0					X																	71830970		2203	4300	6503	SO:0001587	stop_gained	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71830970C>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2434G>T	X.37:g.71830970C>A	ENSP00000362643:p.Glu812*		Somatic				PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E753*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E812*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E812*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E812*	p.E753*			WXS	Illumina GAIIx	Phase_I	P46020	KPB1_HUMAN			21	2695	-	Renal(35;0.156)		812					B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	c.2257G>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	42	9.573632	0.99208	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.85	5.85	0.93711	.	0.231983	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.4512	16.3512	0.83208	0.0:1.0:0.0:0.0	.	.	.	.	X	753;812;753;812;812	.	ENSP00000342469:E812X	E	-	1	0	PHKA1	71747695	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	5.646000	0.67916	2.467000	0.83353	0.600000	0.82982	GAG		0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			3	70	1	0	0.115264	0.115264	0.119074	3	70				
MGA	23269	broad.mit.edu	37	15	41988785	41988785	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:41988785C>T	ENST00000570161.1	+	2	1577	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	MGA_ENST00000389936.4_Missense_Mutation_p.S526L|MGA_ENST00000545763.1_Missense_Mutation_p.S526L|MGA_ENST00000219905.7_Missense_Mutation_p.S526L|MGA_ENST00000566586.1_Missense_Mutation_p.S526L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCAAGGAATCAGAAAATGGT	0.378																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1576-1578)tCa>tTa		MGA, MAX dimerization protein							70.0	63.0	66.0					15																	41988785		1846	4096	5942	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41988785C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1577C>T	15.37:g.41988785C>T	ENSP00000457035:p.Ser526Leu		Somatic				MGA_ENST00000545763.1_Missense_Mutation_p.S526L|MGA_ENST00000389936.4_Missense_Mutation_p.S526L|MGA_ENST00000570161.1_Missense_Mutation_p.S526L|MGA_ENST00000566586.1_Missense_Mutation_p.S526L	p.S526L	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	1758	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	526					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.1577C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082387	0.55861	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83755	-1.75;-1.76;-1.75	5.54	4.43	0.53597	.	0.999789	0.08089	N	0.999596	T	0.78007	0.4216	L	0.27053	0.805	0.28489	N	0.914562	P;P	0.39737	0.685;0.558	B;B	0.39152	0.292;0.153	T	0.72750	-0.4199	10	0.87932	D	0	.	15.2654	0.73657	0.0:0.9213:0.0:0.0787	.	526;526	F5H7K2;E7ENI0	.;.	L	526	ENSP00000219905:S526L;ENSP00000374586:S526L;ENSP00000442467:S526L	ENSP00000219905:S526L	S	+	2	0	MGA	39776077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.607000	0.88179	0.462000	0.41574	TCA		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	64	0	0	0	0.307466	0	8	64				
FEM1B	10116	broad.mit.edu	37	15	68582628	68582628	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:68582628C>A	ENST00000306917.4	+	2	1547	c.932C>A	c.(931-933)cCt>cAt	p.P311H		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	311					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGTAGAAATCCTCAGGAACTG	0.418																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(931-933)cCt>cAt		fem-1 homolog b (C. elegans)							86.0	83.0	84.0					15																	68582628		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582628C>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.932C>A	15.37:g.68582628C>A	ENSP00000307298:p.Pro311His		Somatic					p.P311H	NM_015322.3	NP_056137.1	WXS	Illumina GAIIx	Phase_I	Q9UK73	FEM1B_HUMAN			2	1547	+			311					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.932C>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627232	0.28978	.	.	ENSG00000169018	ENST00000306917	T	0.41400	1.0	5.92	5.92	0.95590	.	0.110131	0.64402	D	0.000008	T	0.40067	0.1102	L	0.53249	1.67	0.42091	D	0.991295	P	0.43287	0.802	B	0.38056	0.264	T	0.18713	-1.0328	10	0.19147	T	0.46	-22.9305	18.8866	0.92381	0.0:1.0:0.0:0.0	.	311	Q9UK73	FEM1B_HUMAN	H	311	ENSP00000307298:P311H	ENSP00000307298:P311H	P	+	2	0	FEM1B	66369682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.147000	0.50639	2.797000	0.96272	0.555000	0.69702	CCT		0.418	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			8	229	1	0	0.000157383	0.278610	0.000172569	8	229				
LVRN	206338	broad.mit.edu	37	5	115335578	115335578	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:115335578T>G	ENST00000357872.4	+	7	1618	c.1494T>G	c.(1492-1494)ttT>ttG	p.F498L	AQPEP_ENST00000395528.2_Missense_Mutation_p.F15L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		498						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGGAACTCTTTGACATATTTA	0.368																																						ENST00000357872.4																			0											c.(1492-1494)ttT>ttG									81.0	81.0	81.0					5																	115335578		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115335578T>G																												ENST00000357872.4:c.1494T>G	5.37:g.115335578T>G	ENSP00000350541:p.Phe498Leu		Somatic				AQPEP_ENST00000395528.2_Missense_Mutation_p.F15L	p.F498L	NM_173800.4	NP_776161.3	WXS	Illumina GAIIx	Phase_I	Q6Q4G3	AMPQ_HUMAN			7	1618	+			498					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1494T>G	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826919	0.50739	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.09538	3.2;2.97	5.77	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.146689	0.47852	D	0.000217	T	0.40067	0.1102	M	0.93016	3.37	0.35772	D	0.82098	D	0.89917	1.0	D	0.97110	1.0	T	0.59810	-0.7384	10	0.87932	D	0	.	10.4379	0.44445	0.0:0.0781:0.0:0.9219	.	498	Q6Q4G3	AMPQ_HUMAN	L	15;498;487	ENSP00000378899:F15L;ENSP00000350541:F498L	ENSP00000350541:F498L	F	+	3	2	AC010282.1	115363477	1.000000	0.71417	0.866000	0.34008	0.004000	0.04260	2.260000	0.43267	1.082000	0.41137	0.533000	0.62120	TTT		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			28	148	0	0	0	0.717897	0	28	148				
SAMD9	54809	broad.mit.edu	37	7	92734736	92734736	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:92734736A>G	ENST00000379958.2	-	3	944	c.675T>C	c.(673-675)gcT>gcC	p.A225A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	225						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCATACAAGCTGAAGCAA	0.398																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(673-675)gcT>gcC		sterile alpha motif domain containing 9							137.0	131.0	133.0					7																	92734736		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92734736A>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.675T>C	7.37:g.92734736A>G			Somatic					p.A225A	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	WXS	Illumina GAIIx	Phase_I	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	944	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		225					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.675T>C	CCDS34680.1																																																																																				0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		58	295	0	0	0	0.870114	0	58	295				
ABCB11	8647	broad.mit.edu	37	2	169874569	169874569	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:169874569C>A	ENST00000263817.6	-	2	191	c.67G>T	c.(67-69)Gat>Tat	p.D23Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	23					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATGATTTATCTGACTCAAAA	0.403																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(67-69)Gat>Tat		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						130.0	126.0	127.0					2																	169874569		1854	4099	5953	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169874569C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.67G>T	2.37:g.169874569C>A	ENSP00000263817:p.Asp23Tyr		Somatic					p.D23Y	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			2	191	-			23					Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.67G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	8.437	0.849958	0.17034	.	.	ENSG00000073734	ENST00000263817	D	0.87179	-2.22	5.91	3.02	0.34903	.	0.667620	0.13472	U	0.385367	T	0.72700	0.3493	N	0.08118	0	0.36390	D	0.862442	B	0.09022	0.002	B	0.08055	0.003	T	0.71276	-0.4641	10	0.49607	T	0.09	-16.8945	7.5437	0.27753	0.1358:0.7175:0.0:0.1467	.	23	O95342	ABCBB_HUMAN	Y	23	ENSP00000263817:D23Y	ENSP00000263817:D23Y	D	-	1	0	ABCB11	169582815	0.880000	0.30214	0.888000	0.34837	0.266000	0.26442	0.830000	0.27462	1.500000	0.48636	0.655000	0.94253	GAT		0.403	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		19	163	1	0	5.35267e-07	0.557998	6.08258e-07	19	163				
ZSCAN31	64288	broad.mit.edu	37	6	28297403	28297403	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:28297403T>C	ENST00000414429.1	-	6	961	c.58A>G	c.(58-60)Atc>Gtc	p.I20V	ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I20V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I20V|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I20V|ZSCAN31_ENST00000446474.1_Intron			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	20					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)										TGGTCCCAGATAGGGTCTTCC	0.463																																						ENST00000414429.1																			0											c.(58-60)Atc>Gtc		zinc finger and SCAN domain containing 31							84.0	82.0	83.0					6																	28297403		2203	4300	6503	SO:0001583	missense	64288							g.chr6:28297403T>C		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.58A>G	6.37:g.28297403T>C	ENSP00000390076:p.Ile20Val		Somatic				ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I20V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I20V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I20V	p.I20V			WXS	Illumina GAIIx	Phase_I					6	961	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.58A>G	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	T	1.578	-0.532380	0.04112	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036;ENST00000444081	T;T;T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;4.47;4.4;4.17;3.82;3.71;3.59	4.09	-5.44	0.02624	.	.	.	.	.	T	0.00666	0.0022	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49597	-0.8923	9	0.13108	T	0.6	.	0.1507	0.00093	0.2777:0.1953:0.2722:0.2548	.	20	Q96LW9	ZN323_HUMAN	V	20	ENSP00000380050:I20V;ENSP00000413705:I20V;ENSP00000390076:I20V;ENSP00000345339:I20V;ENSP00000389479:I20V;ENSP00000412519:I20V;ENSP00000416108:I20V;ENSP00000406376:I20V;ENSP00000411033:I20V;ENSP00000416225:I20V	ENSP00000345339:I20V	I	-	1	0	ZNF323	28405382	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.364000	0.01080	-1.172000	0.02762	-0.433000	0.05886	ATC		0.463	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		32	181	0	0	0	0.760397	0	32	181				
PPHLN1	51535	broad.mit.edu	37	12	42745776	42745776	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:42745776T>A	ENST00000395568.2	+	3	246	c.162T>A	c.(160-162)agT>agA	p.S54R	PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S54R|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S54R|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S61R|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S72R|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	54					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GATATTACAGTCATGTTGATT	0.428																																						ENST00000395568.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(160-162)agT>agA		periphilin 1							101.0	94.0	96.0					12																	42745776		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745776T>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.162T>A	12.37:g.42745776T>A	ENSP00000378935:p.Ser54Arg		Somatic				PPHLN1_ENST00000549190.1_Missense_Mutation_p.S72R|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S54R|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S61R|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S54R|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000552761.1_Intron	p.S54R	NM_016488.6	NP_057572.5	WXS	Illumina GAIIx	Phase_I	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	246	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	54					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.162T>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515460	0.64634	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	5.04	0.67666	.	0.229759	0.44902	D	0.000407	T	0.47838	0.1467	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P	0.49961	0.93;0.624;0.573;0.573;0.773	P;B;B;B;P	0.45712	0.462;0.261;0.369;0.369;0.491	T	0.49781	-0.8903	9	0.52906	T	0.07	0.0026	8.5205	0.33273	0.0:0.1385:0.0:0.8615	.	54;54;54;61;72	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	R	72;61;54;54;54;61;54	.	ENSP00000351066:S54R	S	+	3	2	PPHLN1	41032043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.456000	0.44997	2.371000	0.80710	0.533000	0.62120	AGT		0.428	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		14	90	0	0	0	0.500413	0	14	90				
AGAP3	116988	broad.mit.edu	37	7	150831516	150831516	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:150831516G>C	ENST00000463381.1	+	11	1168	c.672G>C	c.(670-672)gaG>gaC	p.E224D	AGAP3_ENST00000397238.2_Missense_Mutation_p.E452D	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	416	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGGCAAGGAGATTGACCTGC	0.622																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1354-1356)gaG>gaC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							45.0	52.0	50.0					7																	150831516		2084	4232	6316	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150831516G>C	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.672G>C	7.37:g.150831516G>C	ENSP00000418016:p.Glu224Asp		Somatic				AGAP3_ENST00000463381.1_Missense_Mutation_p.E224D	p.E452D	NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			11	1356	+			416			PH.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.1356G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.495668|4.495668	0.85069|0.85069	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.75154|.	-0.91;-0.91|.	4.25|4.25	3.36|3.36	0.38483|0.38483	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.74913|0.74913	0.3779|0.3779	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;P|.	0.63880|.	0.993;0.98;0.924|.	P;D;P|.	0.66847|.	0.874;0.947;0.798|.	T|T	0.77107|0.77107	-0.2710|-0.2710	10|5	0.56958|.	D|.	0.05|.	.|.	11.9382|11.9382	0.52886|0.52886	0.0899:0.0:0.9101:0.0|0.0899:0.0:0.9101:0.0	.|.	8;452;224|.	E7ETI2;Q96P47-4;B3KNZ8|.	.;.;.|.	D|T	224;8;452;416|2	ENSP00000418016:E224D;ENSP00000380413:E452D|.	ENSP00000334157:E416D|.	E|R	+|+	3|2	2|0	AGAP3|AGAP3	150462449|150462449	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	1.864000|1.864000	0.39469|0.39469	2.355000|2.355000	0.79922|0.79922	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		12	65	0	0	0	0.435327	0	12	65				
RND3	390	broad.mit.edu	37	2	151326539	151326539	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:151326539A>C	ENST00000375734.2	-	5	946	c.697T>G	c.(697-699)Tta>Gta	p.L233V	RND3_ENST00000409557.1_Missense_Mutation_p.L104V|RND3_ENST00000263895.4_Missense_Mutation_p.L233V|RND3_ENST00000472416.1_5'Flank	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	233					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TCCTTTCGTAAGTCCGTAGCA	0.398																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(697-699)Tta>Gta		Rho family GTPase 3							139.0	128.0	132.0					2																	151326539		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326539A>C		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.697T>G	2.37:g.151326539A>C	ENSP00000364886:p.Leu233Val		Somatic				RND3_ENST00000409557.1_Missense_Mutation_p.L104V|RND3_ENST00000263895.4_Missense_Mutation_p.L233V	p.L233V	NM_001254738.1	NP_001241667.1	WXS	Illumina GAIIx	Phase_I	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	946	-			233					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.697T>G	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264585	0.40095	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.66638	-0.22;-0.22;2.5	5.81	5.81	0.92471	.	0.704730	0.12478	N	0.465438	T	0.63165	0.2488	L	0.40543	1.245	0.58432	D	0.999997	B;B;B	0.21309	0.054;0.033;0.033	B;B;B	0.25759	0.063;0.008;0.008	T	0.58763	-0.7579	10	0.72032	D	0.01	-16.204	15.3525	0.74399	1.0:0.0:0.0:0.0	.	96;232;233	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	V	233;233;104	ENSP00000364886:L233V;ENSP00000263895:L233V;ENSP00000386576:L104V	ENSP00000263895:L233V	L	-	1	2	RND3	151034785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.001000	0.70685	2.221000	0.72209	0.528000	0.53228	TTA		0.398	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		8	188	0	0	0	0.278610	0	8	188				
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1				BMS1 pseudogene 20																		CCAGCCTTCTGTAACCCAGTA	0.428													.|||	2693	0.53774	0.6089	0.5115	5008	,	,		17865	0.4008		0.5577	False		,,,				2504	0.5808					ENST00000426066.1																			0																																																			96610							g.chr22:22664639G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664639G>A			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	820	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.428	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	87	0	0	0	0.184627	0	4	87				
LLGL1	3996	broad.mit.edu	37	17	18144992	18144992	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:18144992C>T	ENST00000316843.4	+	18	2826	c.2730C>T	c.(2728-2730)agC>agT	p.S910S		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	910					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGGACATCAGCGGCATCGCTT	0.657																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2728-2730)agC>agT		lethal giant larvae homolog 1 (Drosophila)							90.0	82.0	85.0					17																	18144992		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144992C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2730C>T	17.37:g.18144992C>T			Somatic					p.S910S	NM_004140.3	NP_004131.3	WXS	Illumina GAIIx	Phase_I	Q15334	L2GL1_HUMAN			18	2826	+	all_neural(463;0.228)		910					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2730C>T	CCDS32586.1																																																																																				0.657	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			5	150	0	0	0	0.217242	0	5	150				
PTAR1	375743	broad.mit.edu	37	9	72338295	72338295	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:72338295G>T	ENST00000340434.4	-	6	897	c.894C>A	c.(892-894)ttC>ttA	p.F298L	PTAR1_ENST00000377200.5_Missense_Mutation_p.F219L	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	298					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GATCAGTGCTGAATTCAACTT	0.408																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(655-657)ttC>ttA		protein prenyltransferase alpha subunit repeat containing 1							183.0	179.0	181.0					9																	72338295		1864	4103	5967	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72338295G>T	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.894C>A	9.37:g.72338295G>T	ENSP00000344299:p.Phe298Leu		Somatic				PTAR1_ENST00000340434.4_Missense_Mutation_p.F298L	p.F219L			WXS	Illumina GAIIx	Phase_I	Q7Z6K3	PTAR1_HUMAN			4	659	-			298					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.657C>A	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.777|7.777	0.708662|0.708662	0.15239|0.15239	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000377200;ENST00000340434|ENST00000415701	T;T|.	0.39787|.	1.06;1.06|.	5.99|5.99	5.09|5.09	0.68999|0.68999	Protein prenyltransferase (1);|.	0.108805|.	0.64402|.	D|.	0.000004|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.51911|0.51911	-0.8645|-0.8645	10|5	0.02654|.	T|.	1|.	.|.	15.4334|15.4334	0.75121|0.75121	0.0664:0.0:0.9336:0.0|0.0664:0.0:0.9336:0.0	.|.	298|.	Q7Z6K3|.	PTAR1_HUMAN|.	L|K	219;298|65	ENSP00000366405:F219L;ENSP00000344299:F298L|.	ENSP00000344299:F298L|.	F|Q	-|-	3|1	2|0	PTAR1|PTAR1	71528115|71528115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.515000|4.515000	0.60489|0.60489	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	TTC|CAG		0.408	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		49	279	1	0	6.27289e-28	0.870114	7.84111e-28	49	279				
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			1	Substitution - coding silent(1)	p.C549C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)tgC>tgT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							120.0	126.0	124.0					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403999G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A			Somatic					p.C549C	NM_012415.3	NP_036547.1	WXS	Illumina GAIIx	Phase_I	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1771	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1647C>T	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		5	376	0	0	0	0.217242	0	5	376				
PAIP1	10605	broad.mit.edu	37	5	43556087	43556087	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:43556087G>T	ENST00000306846.3	-	2	512	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	PAIP1_ENST00000338972.4_De_novo_Start_InFrame|PAIP1_ENST00000436644.2_Missense_Mutation_p.L15M|PAIP1_ENST00000514514.1_Missense_Mutation_p.L15M	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	94	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GGAGCTCTCAGGGGCCTCGTT	0.453																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(280-282)Ctg>Atg		poly(A) binding protein interacting protein 1							105.0	115.0	111.0					5																	43556087		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43556087G>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.280C>A	5.37:g.43556087G>T	ENSP00000302768:p.Leu94Met		Somatic				PAIP1_ENST00000338972.4_De_novo_Start_InFrame|PAIP1_ENST00000436644.2_Missense_Mutation_p.L15M|PAIP1_ENST00000514514.1_Missense_Mutation_p.L15M	p.L94M	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	WXS	Illumina GAIIx	Phase_I	Q9H074	PAIP1_HUMAN			2	512	-	Lung NSC(6;2.07e-05)		94			Pro-rich.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.280C>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055276	0.36277	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514514	T;T;T	0.30714	1.52;1.53;1.54	5.8	3.85	0.44370	.	1.841840	0.02477	N	0.088162	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.214;0.214;0.32	B;B;B	0.31751	0.094;0.135;0.124	T	0.21008	-1.0258	10	0.33141	T	0.24	0.1419	3.5061	0.07691	0.0896:0.1219:0.5417:0.2468	.	15;94;15	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	M	94;15;15	ENSP00000302768:L94M;ENSP00000387729:L15M;ENSP00000425084:L15M	ENSP00000302768:L94M	L	-	1	2	PAIP1	43591844	0.970000	0.33590	0.523000	0.27875	0.954000	0.61252	1.472000	0.35376	1.445000	0.47624	0.561000	0.74099	CTG		0.453	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		75	324	1	0	2.0493e-37	0.870114	2.5875e-37	75	324				
TEK	7010	broad.mit.edu	37	9	27213540	27213540	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:27213540A>C	ENST00000380036.4	+	18	3378	c.2936A>C	c.(2935-2937)aAa>aCa	p.K979T	TEK_ENST00000519097.1_Missense_Mutation_p.K831T|TEK_ENST00000406359.4_Missense_Mutation_p.K936T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	979	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TATGTGGCAAAAATAGCAGAT	0.393																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2935-2937)aAa>aCa		TEK tyrosine kinase, endothelial							131.0	132.0	132.0					9																	27213540		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27213540A>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2936A>C	9.37:g.27213540A>C	ENSP00000369375:p.Lys979Thr		Somatic				TEK_ENST00000406359.4_Missense_Mutation_p.K936T|TEK_ENST00000519097.1_Missense_Mutation_p.K831T	p.K979T	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	18	3378	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	979			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2936A>C	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498422	0.85069	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.78364	-1.17;-1.17;-1.17	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000060	D	0.92227	0.7535	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94684	0.7868	10	0.87932	D	0	.	16.1383	0.81506	1.0:0.0:0.0:0.0	.	831;1012;979	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	T	831;979;936	ENSP00000430686:K831T;ENSP00000369375:K979T;ENSP00000383977:K936T	ENSP00000369375:K979T	K	+	2	0	TEK	27203540	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.339000	0.96797	2.219000	0.72066	0.533000	0.62120	AAA		0.393	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			18	120	0	0	0	0.557998	0	18	120				
LAMC1	3915	broad.mit.edu	37	1	183093844	183093844	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:183093844T>A	ENST00000258341.4	+	14	2737	c.2480T>A	c.(2479-2481)cTg>cAg	p.L827Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	827	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTTTGCCGCCTGTGCCAGTGC	0.507																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2479-2481)cTg>cAg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						121.0	109.0	113.0					1																	183093844		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093844T>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2480T>A	1.37:g.183093844T>A	ENSP00000258341:p.Leu827Gln		Somatic					p.L827Q	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			14	2737	+			827			Laminin EGF-like 7.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2480T>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	6.502	0.460766	0.12342	.	.	ENSG00000135862	ENST00000258341	T	0.63255	-0.03	5.51	-5.87	0.02297	EGF-like, laminin (2);	1.126930	0.06482	N	0.732993	T	0.28433	0.0703	N	0.03608	-0.345	0.09310	N	1	B	0.25955	0.138	B	0.19946	0.027	T	0.11251	-1.0595	10	0.32370	T	0.25	.	2.2759	0.04102	0.1691:0.336:0.0987:0.3962	.	827	P11047	LAMC1_HUMAN	Q	827	ENSP00000258341:L827Q	ENSP00000258341:L827Q	L	+	2	0	LAMC1	181360467	0.000000	0.05858	0.167000	0.22817	0.462000	0.32619	-0.174000	0.09839	-0.408000	0.07565	-0.263000	0.10527	CTG		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		5	76	0	0	0	0.278610	0	5	76				
SLC25A39	51629	broad.mit.edu	37	17	42397438	42397438	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:42397438C>T	ENST00000377095.5	-	12	1130	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	SLC25A39_ENST00000225308.8_Missense_Mutation_p.M329I|SLC25A39_ENST00000590194.1_Missense_Mutation_p.M329I|SLC25A39_ENST00000537904.2_Missense_Mutation_p.M314I|SLC25A39_ENST00000586016.1_Missense_Mutation_p.M205I	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	337					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGTGCTGATCATGATGGCAC	0.617																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(985-987)atG>atA		solute carrier family 25, member 39							85.0	86.0	85.0					17																	42397438		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42397438C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.1011G>A	17.37:g.42397438C>T	ENSP00000366299:p.Met337Ile		Somatic				SLC25A39_ENST00000377095.5_Missense_Mutation_p.M337I|SLC25A39_ENST00000586016.1_Missense_Mutation_p.M205I|SLC25A39_ENST00000590194.1_Missense_Mutation_p.M329I|SLC25A39_ENST00000537904.2_Missense_Mutation_p.M314I	p.M329I	NM_016016.2	NP_057100.1	WXS	Illumina GAIIx	Phase_I	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	12	1161	-		Prostate(33;0.0233)	337					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.987G>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258771	0.95368	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78364	-1.17;-1.17;-1.17	5.25	5.25	0.73442	Mitochondrial carrier domain (2);	0.044258	0.85682	D	0.000000	D	0.86912	0.6047	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.987	D;D;P	0.79108	0.992;0.992;0.869	D	0.87570	0.2477	10	0.72032	D;D	0.01;0.01	-23.9532	18.6566	0.91456	0.0:1.0:0.0:0.0	.	314;337;329	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	I	329;337;314	ENSP00000225308:M329I;ENSP00000366299:M337I;ENSP00000444540:M314I	ENSP00000225308:M329I;ENSP00000225308:M329I	M	-	3	0	SLC25A39	39752964	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.440000	0.80464	2.724000	0.93272	0.563000	0.77884	ATG		0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		30	118	0	0	0	0.779181	0	30	118				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			55073							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	141	0	0	0	0.150653	0	3	141				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T			Somatic				CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron	p.T343T			WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	90	1	0	0.014758	0.184627	0.0155021	5	90				
SLC16A9	220963	broad.mit.edu	37	10	61413932	61413932	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:61413932C>T	ENST00000395348.3	-	5	1488	c.852G>A	c.(850-852)aaG>aaA	p.K284K	SLC16A9_ENST00000395347.1_Silent_p.K284K	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	284					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GCCACTTCCTCTTGGCAAGCT	0.373																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(850-852)aaG>aaA		solute carrier family 16, member 9							113.0	115.0	114.0					10																	61413932		2203	4300	6503	SO:0001819	synonymous_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413932C>T	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.852G>A	10.37:g.61413932C>T			Somatic				SLC16A9_ENST00000395347.1_Silent_p.K284K	p.K284K	NM_194298.2	NP_919274.1	WXS	Illumina GAIIx	Phase_I	Q7RTY1	MOT9_HUMAN			5	1488	-			284					Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	c.852G>A	CCDS7256.1																																																																																				0.373	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		45	279	0	0	0	0.870114	0	45	279				
C5orf55	116349	broad.mit.edu	37	5	442720	442720	+	Missense_Mutation	SNP	C	C	T	rs201231253		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:442720C>T	ENST00000408966.2	-	1	538	c.218G>A	c.(217-219)cGc>cAc	p.R73H	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	73						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CCAATGACTGCGCTCCTGGAG	0.602																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(217-219)cGc>cAc		chromosome 5 open reading frame 55							109.0	119.0	116.0					5																	442720		1964	4157	6121	SO:0001583	missense	116349					extracellular region		g.chr5:442720C>T	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.218G>A	5.37:g.442720C>T	ENSP00000386139:p.Arg73His		Somatic					p.R73H	NM_138464.2	NP_612473.1	WXS	Illumina GAIIx	Phase_I	Q8N2X6	CE055_HUMAN			1	538	-			73					Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	c.218G>A	CCDS43298.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	3.754	-0.050907	0.07407	.	.	ENSG00000221990	ENST00000408966	T	0.40225	1.04	0.677	-1.35	0.09114	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14615	-1.0466	8	0.87932	D	0	.	.	.	.	.	73	Q8N2X6	CE055_HUMAN	H	73	ENSP00000386139:R73H	ENSP00000386139:R73H	R	-	2	0	C5orf55	495720	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.375000	0.07475	-1.154000	0.02825	-1.088000	0.02184	CGC		0.602	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		32	179	0	0	0	0.760397	0	32	179				
ACRC	93953	broad.mit.edu	37	X	70823810	70823810	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:70823810G>A	ENST00000373695.1	+	7	1220	c.683G>A	c.(682-684)aGc>aAc	p.S228N	ACRC_ENST00000373696.3_Missense_Mutation_p.S228N			Q96QF7	ACRC_HUMAN	acidic repeat containing	228	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.517																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(682-684)aGc>aAc		acidic repeat containing							297.0	248.0	265.0					X																	70823810		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823810G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.683G>A	X.37:g.70823810G>A	ENSP00000362799:p.Ser228Asn		Somatic				ACRC_ENST00000373696.3_Missense_Mutation_p.S228N	p.S228N			WXS	Illumina GAIIx	Phase_I	Q96QF7	ACRC_HUMAN			7	1220	+	Renal(35;0.156)		228			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.683G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	4.060	0.008825	0.07912	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.29917	1.55;1.55	0.131	0.131	0.14755	.	.	.	.	.	T	0.10423	0.0255	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	9	0.09590	T	0.72	.	4.7321	0.12970	0.3535:0.0:0.6465:0.0	.	228	Q96QF7	ACRC_HUMAN	N	228	ENSP00000362800:S228N;ENSP00000362799:S228N	ENSP00000362799:S228N	S	+	2	0	ACRC	70740535	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.026000	0.01434	-1.744000	0.01338	-1.764000	0.00666	AGC		0.517	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			6	303	0	0	0	0.217242	0	6	303				
CHD1	1105	broad.mit.edu	37	5	98217770	98217770	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:98217770C>T	ENST00000284049.3	-	19	2925	c.2776G>A	c.(2776-2778)Gcg>Acg	p.A926T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	926	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTTTTTCGCCCTTTCAAGA	0.363																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(2776-2778)Gcg>Acg		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						132.0	119.0	123.0					5																	98217770		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98217770C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2776G>A	5.37:g.98217770C>T	ENSP00000284049:p.Ala926Thr		Somatic					p.A926T	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	19	2925	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	926			Helicase C-terminal.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.2776G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384563	0.95967	.	.	ENSG00000153922	ENST00000284049	D	0.94828	-3.53	4.88	4.88	0.63580	Helicase, C-terminal (1);	0.000000	0.33382	U	0.004972	D	0.97592	0.9211	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98452	1.0592	10	0.87932	D	0	.	18.3808	0.90451	0.0:1.0:0.0:0.0	.	926	O14646	CHD1_HUMAN	T	926	ENSP00000284049:A926T	ENSP00000284049:A926T	A	-	1	0	CHD1	98245670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.432000	0.82394	0.585000	0.79938	GCG		0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		30	75	0	0	0	0.706142	0	30	75				
USP1	7398	broad.mit.edu	37	1	62911028	62911028	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:62911028G>C	ENST00000339950.4	+	6	1992	c.1177G>C	c.(1177-1179)Ggt>Cgt	p.G393R	USP1_ENST00000371146.1_Missense_Mutation_p.G393R	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	393	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CACAACTAATGGTTGTGGACT	0.343																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1177-1179)Ggt>Cgt		ubiquitin specific peptidase 1							38.0	41.0	40.0					1																	62911028		2201	4296	6497	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62911028G>C		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1177G>C	1.37:g.62911028G>C	ENSP00000343526:p.Gly393Arg		Somatic				USP1_ENST00000371146.1_Missense_Mutation_p.G393R	p.G393R	NM_003368.4	NP_003359.3	WXS	Illumina GAIIx	Phase_I	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	1992	+		all_neural(321;0.0281)	393					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1177G>C	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	1.803	-0.476560	0.04414	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.18810	2.19;2.19	4.89	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.917366	0.09395	N	0.808048	T	0.15349	0.0370	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.23852	0.049	T	0.07947	-1.0746	10	0.07813	T	0.8	-0.0015	15.8449	0.78879	0.0:0.0:0.8044:0.1956	.	393	O94782	UBP1_HUMAN	R	393	ENSP00000360188:G393R;ENSP00000343526:G393R	ENSP00000343526:G393R	G	+	1	0	USP1	62683616	0.934000	0.31675	0.437000	0.26809	0.027000	0.11550	1.886000	0.39688	2.528000	0.85240	0.603000	0.83216	GGT		0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		16	82	0	0	0	0.500413	0	16	82				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G			Somatic				ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	WXS	Illumina GAIIx	Phase_I	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	15	0	0	0	0.115264	0	3	15				
PNLIP	5406	broad.mit.edu	37	10	118327269	118327269	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:118327269A>G	ENST00000369221.2	+	13	1385	c.1357A>G	c.(1357-1359)Acc>Gcc	p.T453A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	453	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TAGTCCAGAAACCGTCAGGGA	0.438																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(1357-1359)Acc>Gcc		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						180.0	163.0	169.0					10																	118327269		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118327269A>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1357A>G	10.37:g.118327269A>G	ENSP00000358223:p.Thr453Ala		Somatic					p.T453A	NM_000936.2	NP_000927.1	WXS	Illumina GAIIx	Phase_I	P16233	LIPP_HUMAN		all cancers(201;0.0131)	13	1385	+			453			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1357A>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	8.984	0.976024	0.18736	.	.	ENSG00000175535	ENST00000369221	T	0.65178	-0.14	5.52	5.52	0.82312	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.085246	0.50627	D	0.000106	T	0.66567	0.2802	M	0.84219	2.685	0.21719	N	0.999576	B	0.20261	0.043	B	0.26864	0.074	T	0.60120	-0.7325	10	0.41790	T	0.15	.	13.4553	0.61195	1.0:0.0:0.0:0.0	.	453	P16233	LIPP_HUMAN	A	453	ENSP00000358223:T453A	ENSP00000358223:T453A	T	+	1	0	PNLIP	118317259	0.978000	0.34361	0.029000	0.17559	0.001000	0.01503	3.691000	0.54720	2.234000	0.73211	0.533000	0.62120	ACC		0.438	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		7	131	0	0	0	0.278610	0	7	131				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	79	0	0	0	0.248553	0	5	79				
INSRR	3645	broad.mit.edu	37	1	156823587	156823587	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:156823587C>T	ENST00000368195.3	-	2	990	c.594G>A	c.(592-594)ggG>ggA	p.G198G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	198					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTCAGTGTGCCCGCTGAAGG	0.612																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(592-594)ggG>ggA		insulin receptor-related receptor							65.0	58.0	60.0					1																	156823587		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823587C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.594G>A	1.37:g.156823587C>T			Somatic				NTRK1_ENST00000392302.2_Intron	p.G198G	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			2	990	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		198					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.594G>A	CCDS1160.1																																																																																				0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		3	83	0	0	0	0.150653	0	3	83				
ZNF518B	85460	broad.mit.edu	37	4	10445423	10445423	+	Missense_Mutation	SNP	G	G	A	rs368367410		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:10445423G>A	ENST00000326756.3	-	3	2968	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	844					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTTTAGGCCGCAGAGGTGTC	0.463																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2530-2532)Cgg>Tgg		zinc finger protein 518B		G	TRP/ARG	0,4406		0,0,2203	87.0	83.0	85.0		2530	2.3	0.1	4		85	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF518B	NM_053042.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	844/1075	10445423	3,13003	2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445423G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2530C>T	4.37:g.10445423G>A	ENSP00000317614:p.Arg844Trp		Somatic					p.R844W	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	2968	-			844					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2530C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253438	0.59212	0.0	3.49E-4	ENSG00000178163	ENST00000326756	T	0.01947	4.54	6.02	2.28	0.28536	.	0.478975	0.19882	N	0.103947	T	0.01976	0.0062	L	0.46157	1.445	0.09310	N	1	B	0.33135	0.399	B	0.20767	0.031	T	0.46303	-0.9201	10	0.87932	D	0	-12.5883	3.5969	0.08009	0.0808:0.134:0.4126:0.3726	.	844	Q9C0D4	Z518B_HUMAN	W	844	ENSP00000317614:R844W	ENSP00000317614:R844W	R	-	1	2	ZNF518B	10054521	0.003000	0.15002	0.091000	0.20842	0.003000	0.03518	1.200000	0.32247	0.889000	0.36185	-0.152000	0.13540	CGG		0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		4	143	0	0	0	0.150653	0	4	143				
UBR4	23352	broad.mit.edu	37	1	19407942	19407942	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:19407942A>G	ENST00000375254.3	-	103	15161	c.15134T>C	c.(15133-15135)aTc>aCc	p.I5045T	UBR4_ENST00000543981.1_Missense_Mutation_p.I709T|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375217.2_Missense_Mutation_p.I5038T|UBR4_ENST00000429347.2_Missense_Mutation_p.I568T|UBR4_ENST00000375224.1_Missense_Mutation_p.I752T|UBR4_ENST00000375225.3_Missense_Mutation_p.I120T|UBR4_ENST00000375226.2_Missense_Mutation_p.I5021T|UBR4_ENST00000375267.2_Missense_Mutation_p.I5045T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5045					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGGGGCAGGATGTGAAGGGC	0.592																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(15133-15135)aTc>aCc		ubiquitin protein ligase E3 component n-recognin 4							151.0	154.0	153.0					1																	19407942		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19407942A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15134T>C	1.37:g.19407942A>G	ENSP00000364403:p.Ile5045Thr		Somatic				UBR4_ENST00000375224.1_Missense_Mutation_p.I752T|UBR4_ENST00000375254.3_Missense_Mutation_p.I5045T|UBR4_ENST00000375217.2_Missense_Mutation_p.I5038T|UBR4_ENST00000375226.2_Missense_Mutation_p.I5021T|UBR4_ENST00000375225.3_Missense_Mutation_p.I120T|UBR4_ENST00000543981.1_Missense_Mutation_p.I709T|UBR4_ENST00000429347.2_Missense_Mutation_p.I568T	p.I5045T			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	103	15137	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5045					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15134T>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284853	0.40394	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.39	5.39	0.77823	.	0.164328	0.52532	D	0.000067	T	0.18425	0.0442	N	0.08118	0	0.58432	D	0.999996	B;B;B;B	0.26708	0.017;0.157;0.157;0.004	B;B;B;B	0.25759	0.042;0.038;0.063;0.015	T	0.07083	-1.0791	10	0.46703	T	0.11	.	14.521	0.67851	1.0:0.0:0.0:0.0	.	709;568;5045;5021	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	T	5045;5045;5038;5021;120;752;568;709	ENSP00000364403:I5045T;ENSP00000364416:I5045T;ENSP00000364365:I5038T;ENSP00000364374:I5021T;ENSP00000364373:I120T;ENSP00000364372:I752T;ENSP00000394173:I568T;ENSP00000444070:I709T	ENSP00000364365:I5038T	I	-	2	0	UBR4	19280529	1.000000	0.71417	0.987000	0.45799	0.213000	0.24496	8.853000	0.92222	2.170000	0.68504	0.379000	0.24179	ATC		0.592	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		11	255	0	0	0	0.361761	0	11	255				
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:18675803G>A	ENST00000395665.4	+	12	2306	c.2085G>A	c.(2083-2085)acG>acA	p.T695T	FBXW10_ENST00000308799.4_Silent_p.T724T|FBXW10_ENST00000301938.4_Silent_p.T642T|FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000573605.1_3'UTR			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2170-2172)acG>acA		F-box and WD repeat domain containing 10							146.0	150.0	149.0					17																	18675803		2203	4300	6503	SO:0001819	synonymous_variant	10517							g.chr17:18675803G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2085G>A	17.37:g.18675803G>A			Somatic				FBXW10_ENST00000395665.4_Silent_p.T695T|FBXW10_ENST00000301938.4_Silent_p.T642T|FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000573605.1_3'UTR	p.T724T			WXS	Illumina GAIIx	Phase_I	Q5XX13	FBW10_HUMAN			11	2391	+			695					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.2172G>A	CCDS11199.3																																																																																				0.408	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		57	242	0	0	0	0.870114	0	57	242				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	124	0	0	0	0.115264	0	3	124				
CELSR3	1951	broad.mit.edu	37	3	48691328	48691328	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:48691328C>T	ENST00000164024.4	-	8	5541	c.5261G>A	c.(5260-5262)gGc>gAc	p.G1754D	CELSR3_ENST00000544264.1_Missense_Mutation_p.G1754D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1754	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGTCTTTGCCGCCGAAGCC	0.602																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5260-5262)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 3							48.0	61.0	56.0					3																	48691328		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48691328C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5261G>A	3.37:g.48691328C>T	ENSP00000164024:p.Gly1754Asp		Somatic				CELSR3_ENST00000164024.4_Missense_Mutation_p.G1754D	p.G1754D			WXS	Illumina GAIIx	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	5541	-			1754			EGF-like 4; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5261G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	33	5.230111	0.95207	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.98150	-4.75;-4.75	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99124	0.9698	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99342	1.0912	9	0.87932	D	0	.	19.4859	0.95028	0.0:1.0:0.0:0.0	.	1754;1824	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	1754	ENSP00000164024:G1754D;ENSP00000445694:G1754D	ENSP00000164024:G1754D	G	-	2	0	CELSR3	48666332	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.715000	0.68430	2.616000	0.88540	0.651000	0.88453	GGC		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		3	78	0	0	0	0.115264	0	3	78				
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	lincRNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs541148130|rs112549370|rs150770443		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426																																						ENST00000412294.1																			0																																																			100506457							g.chr2:12293343_12293351delTTCCTTCCC																													2.37:g.12293352_12293360delTTCCTTCCC			Somatic								WXS	Illumina GAIIx	Phase_I					0	197	+									RNA	DEL	ENST00000412294.1	37																																																																																						0.426	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			4	6						4	6	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242079401	242079401	+	Frame_Shift_Del	DEL	G	G	-	rs200237047		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:242079401delG	ENST00000405260.1	-	4	1197	c.499delC	c.(499-501)ctcfs	p.L167fs	PASK_ENST00000403638.3_Frame_Shift_Del_p.L167fs|PASK_ENST00000234040.4_Frame_Shift_Del_p.L167fs|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Frame_Shift_Del_p.L167fs	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	167	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AACTGCGTGAGCTTCTGGCCA	0.582																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(499-501)tcfs		PAS domain containing serine/threonine kinase							71.0	59.0	63.0					2																	242079401		2203	4300	6503	SO:0001589	frameshift_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079401delG	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.499delC	2.37:g.242079401delG	ENSP00000384016:p.Leu167fs		Somatic				PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Frame_Shift_Del_p.L167fs|PASK_ENST00000234040.4_Frame_Shift_Del_p.L167fs|PASK_ENST00000358649.4_Frame_Shift_Del_p.L167fs	p.L167fs	NM_001252124.1	NP_001239053.1	WXS	Illumina GAIIx	Phase_I	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	590	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	167			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Frame_Shift_Del	DEL	ENST00000405260.1	37	c.499delC	CCDS2545.1																																																																																				0.582	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		18	43						18	43	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs		Somatic				EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	WXS	Illumina GAIIx	Phase_I	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	187						7	187	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188252	10188252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:10188252delA	ENST00000256474.2	+	2	1235	c.395delA	c.(394-396)caafs	p.Q132fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	132	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T133fs*26(4)|p.N131fs*27(2)|p.Q132fs*2(1)|p.N131fs*10(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGGTTAACCAAACTGAATTA	0.453		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		10	Deletion - Frameshift(10)	p.T133fs*26(4)|p.N131fs*27(2)|p.Q132fs*2(1)|p.N131fs*10(1)|p.N131*(1)|p.N131fs*7(1)	kidney(10)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM994242	VHL	M		c.(394-396)cafs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							207.0	191.0	196.0					3																	10188252		2203	4300	6503	SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188252delA	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.395delA	3.37:g.10188252delA	ENSP00000256474:p.Gln132fs		Somatic				VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.Q132fs	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1235	+			132			Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.395delA	CCDS2597.1																																																																																				0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		51	298						51	298	---	---	---	---
LOC152578	152578	broad.mit.edu	37	4	53661752	53661765	+	lincRNA	DEL	AAGAAAGAGAGAGA	AAGAAAGAGAGAGA	-	rs148828217		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:53661752_53661765delAAGAAAGAGAGAGA	ENST00000514957.1	+	0	321					NR_040106.1																						ggaaggaaggaagaaagagagagaaagaaagaga	0.407																																						ENST00000514957.1																			0																																																			152578							g.chr4:53661752_53661765delAAGAAAGAGAGAGA																													4.37:g.53661752_53661765delAAGAAAGAGAGAGA			Somatic						NR_040106.1		WXS	Illumina GAIIx	Phase_I					0	321	+									RNA	DEL	ENST00000514957.1	37																																																																																						0.407	RP11-752D24.3-001	KNOWN	non_canonical_conserved|basic	lincRNA	lincRNA	OTTHUMT00000361827.2			4	2						4	2	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767136	115767136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:115767136delG	ENST00000264363.2	-	10	2636	c.1958delC	c.(1957-1959)cctfs	p.P653fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	653	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGGTGTAGGGAAAAAGTC	0.358																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1957-1959)ctfs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							67.0	65.0	66.0					4																	115767136		2203	4300	6503	SO:0001589	frameshift_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767136delG	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1958delC	4.37:g.115767136delG	ENSP00000264363:p.Pro653fs		Somatic					p.P653fs	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2636	-		Ovarian(17;0.156)	653			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Frame_Shift_Del	DEL	ENST00000264363.2	37	c.1958delC	CCDS3706.1																																																																																				0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		17	72						17	72	---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176395660	176395663	+	Frame_Shift_Del	DEL	CCCT	CCCT	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:176395660_176395663delCCCT	ENST00000377227.4	-	6	1225_1228	c.1093_1096delAGGG	c.(1093-1098)agggcafs	p.RA365fs	UIMC1_ENST00000511320.1_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000377219.2_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	365	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTCAGATGCCCTAGACTCCTGC	0.441																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1093-1098)cafs		ubiquitin interaction motif containing 1																																				SO:0001589	frameshift_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176395660_176395663delCCCT	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1093_1096delAGGG	5.37:g.176395660_176395663delCCCT	ENSP00000366434:p.Arg365fs		Somatic				UIMC1_ENST00000377227.4_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000506128.1_Intron	p.RA365fs	NM_016290.4	NP_057374.3	WXS	Illumina GAIIx	Phase_I	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1259_1262	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	365			AIR.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Frame_Shift_Del	DEL	ENST00000377227.4	37	c.1093_1096delAGGG	CCDS4408.1																																																																																				0.441	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		32	357						32	357	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130465915	130465915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:130465915delT	ENST00000368134.2	-	14	1921	c.1313delA	c.(1312-1314)aacfs	p.N438fs	SAMD3_ENST00000437477.2_Frame_Shift_Del_p.N438fs|RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.N462fs|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.N438fs	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	438										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTTGAAAGGGTTTTTAACTTC	0.403																																						ENST00000368134.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1312-1314)acfs		sterile alpha motif domain containing 3							40.0	41.0	41.0					6																	130465915		2203	4300	6503	SO:0001589	frameshift_variant	154075							g.chr6:130465915delT	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1313delA	6.37:g.130465915delT	ENSP00000357116:p.Asn438fs		Somatic				SAMD3_ENST00000457563.2_Frame_Shift_Del_p.N462fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.N438fs|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.N438fs	p.N438fs	NM_001258275.1	NP_001245204.1	WXS	Illumina GAIIx	Phase_I	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	14	1921	-			438					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	ENST00000368134.2	37	c.1313delA	CCDS34539.1																																																																																				0.403	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		26	98						26	98	---	---	---	---
TARID	100507308	broad.mit.edu	37	6	134013764	134013765	+	RNA	DEL	AC	AC	-	rs374033658|rs144873970		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:134013764_134013765delAC	ENST00000607033.1	-	0	623				RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA																							aaaaaaGCAAacacacacacac	0.475																																						ENST00000607033.1																			0																																																			100507308							g.chr6:134013764_134013765delAC																													6.37:g.134013774_134013775delAC			Somatic				RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA				WXS	Illumina GAIIx	Phase_I					0	623	-									RNA	DEL	ENST00000607033.1	37																																																																																						0.475	RP3-323P13.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000470371.1			3	6						3	6	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92940514	92940527	+	Frame_Shift_Del	DEL	AGATTACAGTCTAA	AGATTACAGTCTAA	-	rs374860561		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:92940514_92940527delAGATTACAGTCTAA	ENST00000305866.5	+	20	1913_1926	c.1785_1798delAGATTACAGTCTAA	c.(1783-1800)tcagattacagtctaaatfs	p.DYSLN596fs	CCDC132_ENST00000544910.1_Frame_Shift_Del_p.DYSLN566fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.DYSLN316fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.DYSLN407fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.DYSLN327fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	596						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAAGAAATCAGATTACAGTCTAAATAAAGTGAA	0.304																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1693-1710)tcatfs		coiled-coil domain containing 132																																				SO:0001589	frameshift_variant	55610							g.chr7:92940514_92940527delAGATTACAGTCTAA	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1785_1798delAGATTACAGTCTAA	7.37:g.92940514_92940527delAGATTACAGTCTAA	ENSP00000307666:p.Asp596fs		Somatic				CCDC132_ENST00000317751.6_Frame_Shift_Del_p.SDYSLN326fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.SDYSLN406fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.SDYSLN595fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.SDYSLN315fs	p.SDYSLN565fs	NM_001257998.1	NP_001244927.1	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		21	1915_1928	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		595					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Del	DEL	ENST00000305866.5	37	c.1695_1708delAGATTACAGTCTAA	CCDS43617.1																																																																																				0.304	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		24	373						24	373	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		8	10						8	10	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			4	7						4	7	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7786219	7786220	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:7786219_7786220delAC	ENST00000358415.4	+	18	2550_2551	c.2384_2385delAC	c.(2383-2385)gacfs	p.D795fs	ITIH2_ENST00000379587.4_Frame_Shift_Del_p.D784fs	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	795					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCTGGTCCGACACGGCTCAAG	0.46																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2383-2385)gfs		inter-alpha-trypsin inhibitor heavy chain 2																																				SO:0001589	frameshift_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786219_7786220delAC	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2384_2385delAC	10.37:g.7786221_7786222delAC	ENSP00000351190:p.Asp795fs		Somatic				ITIH2_ENST00000379587.4_Frame_Shift_Del_p.D784fs	p.D795fs	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	P19823	ITIH2_HUMAN			18	2550_2551	+			795					Q14659|Q15484|Q5T986	Frame_Shift_Del	DEL	ENST00000358415.4	37	c.2384_2385delAC	CCDS31141.1																																																																																				0.460	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		25	171						25	171	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	84304							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	7						4	7	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs		Somatic				DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	WXS	Illumina GAIIx	Phase_I	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		8	280						8	280	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs		Somatic				CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	116						9	116	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			5	8						5	8	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33064127	33064132	+	Splice_Site	DEL	TACCTT	TACCTT	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr21:33064127_33064132delTACCTT	ENST00000286835.7	-	14	2108_2111	c.1726_1729delAAGGTA	c.(1726-1731)aaggta>ta	p.KV576del	SCAF4_ENST00000434667.3_Splice_Site_p.KV561del|SCAF4_ENST00000399804.1_Splice_Site_p.KV576del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	576	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTAAGACTGTACCTTTATGGATTTC	0.364																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.e14+1		SR-related CTD-associated factor 4																																				SO:0001630	splice_region_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33064127_33064132delTACCTT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1728+1AAGGTA>-	21.37:g.33064127_33064132delTACCTT			Somatic				SCAF4_ENST00000399804.1_Splice_Site_p.576_splice|SCAF4_ENST00000434667.3_Splice_Site_p.561_splice	p.576_splice	NM_020706.2	NP_065757.1	WXS	Illumina GAIIx	Phase_I	O95104	SFR15_HUMAN			14	2108_2111	-			576			RRM.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Splice_Site	DEL	ENST00000286835.7	37	c.1728_splice	CCDS33537.1																																																																																				0.364	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	In_Frame_Del	22	166						22	166	---	---	---	---
