#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	142	0	0	0	1	0	6	142				
SETD2	29072	broad.mit.edu	37	3	47158161	47158161	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:47158161T>A	ENST00000409792.3	-	4	4580	c.4538A>T	c.(4537-4539)gAa>gTa	p.E1513V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1513	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACATGCTATTTCACCTTGAGC	0.353			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4537-4539)gAa>gTa		SET domain containing 2							125.0	124.0	124.0					3																	47158161		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47158161T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4538A>T	3.37:g.47158161T>A	ENSP00000386759:p.Glu1513Val						p.E1513V	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	4	4580	-		Acute lymphoblastic leukemia(5;0.0169)	1513			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4538A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455043	0.63290	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.78816	-1.21	5.93	5.93	0.95920	AWS (2);	0.000000	0.64402	D	0.000019	T	0.81460	0.4827	M	0.86502	2.82	0.41522	D	0.988405	B;B	0.19706	0.038;0.038	B;B	0.09377	0.004;0.004	T	0.79902	-0.1607	10	0.66056	D	0.02	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	1513;1513	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1513	ENSP00000386759:E1513V	ENSP00000386759:E1513V	E	-	2	0	SETD2	47133165	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.160000	0.58164	2.270000	0.75569	0.482000	0.46254	GAA		0.353	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	144	0	0	0	1	0	7	144				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	94	0	0	0	1	0	4	94				
H2AFY	9555	broad.mit.edu	37	5	134705828	134705828	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:134705828C>A	ENST00000511689.1	-	3	770	c.177G>T	c.(175-177)gaG>gaT	p.E59D	H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	59	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCAGAATCTCCGCTGTGG	0.587																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(175-177)gaG>gaT		H2A histone family, member Y							68.0	55.0	60.0					5																	134705828		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705828C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.177G>T	5.37:g.134705828C>A	ENSP00000423563:p.Glu59Asp					H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D|H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron	p.E59D	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	770	-			59			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.177G>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528309	0.85706	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.06	1.32	0.21799	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.996;0.99;0.999	D	0.85802	0.1374	10	0.87932	D	0	.	7.5247	0.27647	0.0:0.3119:0.0:0.6881	.	59;59;59	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	D	59	ENSP00000423563:E59D;ENSP00000302572:E59D;ENSP00000310169:E59D;ENSP00000424971:E59D	ENSP00000302572:E59D	E	-	3	2	H2AFY	134733727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.743000	0.38258	0.311000	0.23014	0.655000	0.94253	GAG		0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		3	16	1	0	0.00909568	1	0.00976122	3	16				
PDS5A	23244	broad.mit.edu	37	4	39924324	39924324	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:39924324A>T	ENST00000303538.8	-	6	1111	c.572T>A	c.(571-573)aTg>aAg	p.M191K	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATAGAACTCATCAAATCTAG	0.333																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(571-573)aTg>aAg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							124.0	112.0	116.0					4																	39924324		1872	4101	5973	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39924324A>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.572T>A	4.37:g.39924324A>T	ENSP00000303427:p.Met191Lys					PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K	p.M191K	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			6	1111	-			191						Missense_Mutation	SNP	ENST00000303538.8	37	c.572T>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740892	0.89573	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.68331	-0.18;-0.32	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80894	0.4711	M	0.71581	2.175	0.80722	D	1	D;D	0.62365	0.988;0.991	P;D	0.78314	0.877;0.991	T	0.80845	-0.1200	9	.	.	.	-16.6373	16.3473	0.83146	1.0:0.0:0.0:0.0	.	191;191	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	K	191	ENSP00000303427:M191K;ENSP00000426749:M191K	.	M	-	2	0	PDS5A	39600719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	ATG		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	19	0	0	0	1	0	3	19				
SHROOM3	57619	broad.mit.edu	37	4	77661845	77661845	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:77661845C>T	ENST00000296043.6	+	5	3472	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	840					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAGCTGAACCCCTAGGCAAC	0.562																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2518-2520)cCc>cTc		shroom family member 3							61.0	71.0	68.0					4																	77661845		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661845C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2519C>T	4.37:g.77661845C>T	ENSP00000296043:p.Pro840Leu						p.P840L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3472	+			840					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2519C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	3.991	-0.004565	0.07773	.	.	ENSG00000138771	ENST00000296043	T	0.30448	1.53	4.9	1.17	0.20885	.	5.404700	0.00357	N	0.000020	T	0.18130	0.0435	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14200	-1.0481	10	0.10111	T	0.7	0.0056	4.823	0.13400	0.1546:0.5904:0.0:0.2549	.	664;840;618	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	840	ENSP00000296043:P840L	ENSP00000296043:P840L	P	+	2	0	SHROOM3	77880869	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	1.049000	0.30392	0.001000	0.14605	0.558000	0.71614	CCC		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		23	81	0	0	0	1	0	23	81				
OR8I2	120586	broad.mit.edu	37	11	55860831	55860831	+	Silent	SNP	A	A	G			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:55860831A>G	ENST00000302124.2	+	1	79	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCTCTCTGGATTTGCAAATC	0.388																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(46-48)ggA>ggG		olfactory receptor, family 8, subfamily I, member 2							161.0	158.0	159.0					11																	55860831		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860831A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.48A>G	11.37:g.55860831A>G						OR8I2_ENST00000560768.1_Silent_p.G16G	p.G16G			Q8N0Y5	OR8I2_HUMAN			1	79	+	Esophageal squamous(21;0.00693)		16					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.48A>G	CCDS31517.1																																																																																				0.388	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		81	113	0	0	0	1	0	81	113				
SPHKAP	80309	broad.mit.edu	37	2	228881275	228881275	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:228881275T>C	ENST00000392056.3	-	7	4341	c.4295A>G	c.(4294-4296)gAa>gGa	p.E1432G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1432						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGATCTGTTTCAATCTGAAT	0.458																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4294-4296)gAa>gGa		SPHK1 interactor, AKAP domain containing							64.0	67.0	66.0					2																	228881275		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881275T>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4295A>G	2.37:g.228881275T>C	ENSP00000375909:p.Glu1432Gly					SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G	p.E1432G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4341	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1432					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4295A>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718799	0.89205	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.19669	2.16;2.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.40813	-0.9543	10	0.33141	T	0.24	.	15.0814	0.72117	0.0:0.0:0.0:1.0	.	463;1432;1432	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	G	1432	ENSP00000375909:E1432G;ENSP00000339886:E1432G	ENSP00000339886:E1432G	E	-	2	0	SPHKAP	228589519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.529000	0.67135	2.147000	0.66899	0.533000	0.62120	GAA		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	77	0	0	0	1	0	4	77				
HEBP2	23593	broad.mit.edu	37	6	138726293	138726293	+	Silent	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:138726293T>C	ENST00000607197.1	+	2	391	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	38					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CCGGAAGTTATGAGATCCGAC	0.507																																						ENST00000607197.1																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(112-114)taT>taC		heme binding protein 2							121.0	121.0	121.0					6																	138726293		2203	4300	6503	SO:0001819	synonymous_variant	23593					mitochondrion		g.chr6:138726293T>C	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.114T>C	6.37:g.138726293T>C						HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y	p.Y38Y	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	2	391	+	Breast(32;0.0933)		38					Q96P57	Silent	SNP	ENST00000607197.1	37	c.114T>C	CCDS5191.1																																																																																				0.507	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			59	72	0	0	0	1	0	59	72				
TAB2	23118	broad.mit.edu	37	6	149718873	149718873	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718873A>T	ENST00000367456.1	+	5	2314	c.1737A>T	c.(1735-1737)agA>agT	p.R579S	TAB2_ENST00000536230.1_Missense_Mutation_p.R547S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000286332.5_Missense_Mutation_p.R579S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	579					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCCTGAAAAGATCAAATTCTA	0.343																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1735-1737)agA>agT		TGF-beta activated kinase 1/MAP3K7 binding protein 2							132.0	142.0	138.0					6																	149718873		2200	4299	6499	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149718873A>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1737A>T	6.37:g.149718873A>T	ENSP00000356426:p.Arg579Ser					TAB2_ENST00000286332.5_Missense_Mutation_p.R579S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|TAB2_ENST00000536230.1_Missense_Mutation_p.R547S	p.R579S			Q9NYJ8	TAB2_HUMAN			5	2314	+			579					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1737A>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320746	0.60634	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.74421	-0.84;-0.83;-0.83;-0.83	5.06	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.68952	2.095	0.80722	D	1	B;P	0.40398	0.411;0.716	B;P	0.47603	0.28;0.551	T	0.67910	-0.5548	10	0.87932	D	0	-11.4289	8.2498	0.31710	0.7834:0.0:0.2166:0.0	.	547;579	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	S	547;579;579;579	ENSP00000443206:R547S;ENSP00000445752:R579S;ENSP00000356426:R579S;ENSP00000286332:R579S	ENSP00000286332:R579S	R	+	3	2	TAB2	149760566	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.778000	0.47726	0.329000	0.23460	0.383000	0.25322	AGA		0.343	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			5	100	0	0	0	1	0	5	100				
MMP8	4317	broad.mit.edu	37	11	102584138	102584138	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:102584138C>A	ENST00000236826.3	-	10	1443	c.1345G>T	c.(1345-1347)Gct>Tct	p.A449S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	449					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACTCTCTGAGCAATAAGATCA	0.343																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(1345-1347)Gct>Tct		matrix metallopeptidase 8 (neutrophil collagenase)							179.0	156.0	164.0					11																	102584138		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584138C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1345G>T	11.37:g.102584138C>A	ENSP00000236826:p.Ala449Ser						p.A449S	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	10	1443	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	449			Hemopexin-like 4.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1345G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075454	0.08485	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.13196	2.61	5.44	-4.9	0.03094	Hemopexin/matrixin (2);	0.980746	0.08332	N	0.962236	T	0.04998	0.0134	N	0.12831	0.26	0.09310	N	1	B;B	0.19935	0.014;0.04	B;B	0.21360	0.01;0.034	T	0.43458	-0.9390	10	0.08381	T	0.77	.	4.1071	0.10041	0.3689:0.2085:0.0:0.4226	.	449;449	A8K9E4;P22894	.;MMP8_HUMAN	S	449;426	ENSP00000236826:A449S	ENSP00000236826:A449S	A	-	1	0	MMP8	102089348	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.725000	0.00808	-0.956000	0.03631	-0.253000	0.11424	GCT		0.343	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		6	89	1	0	0.0293803	1	0.0307794	6	89				
VPS8	23355	broad.mit.edu	37	3	184689502	184689502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:184689502C>T	ENST00000437079.3	+	40	3553	c.3382C>T	c.(3382-3384)Cag>Tag	p.Q1128*	VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1128							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGCTCTTTGCCAGAGAAATTC	0.408																																						ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(3382-3384)Cag>Tag		vacuolar protein sorting 8 homolog (S. cerevisiae)							110.0	105.0	107.0					3																	184689502		1900	4124	6024	SO:0001587	stop_gained	23355						zinc ion binding	g.chr3:184689502C>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3382C>T	3.37:g.184689502C>T	ENSP00000397879:p.Gln1128*					VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*	p.Q1128*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		40	3553	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1128					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Nonsense_Mutation	SNP	ENST00000437079.3	37	c.3382C>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	43	9.846805	0.99279	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	6.06	6.06	0.98353	.	0.106857	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.0819	17.5376	0.87837	0.0:1.0:0.0:0.0	.	.	.	.	X	1128;1128;1126;1036	.	ENSP00000287546:Q1128X	Q	+	1	0	VPS8	186172196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.956000	0.63645	2.882000	0.98803	0.655000	0.94253	CAG		0.408	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		15	9	0	0	0	1	0	15	9				
MED13L	23389	broad.mit.edu	37	12	116429391	116429391	+	Missense_Mutation	SNP	A	A	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr12:116429391A>C	ENST00000281928.3	-	17	3574	c.3368T>G	c.(3367-3369)tTt>tGt	p.F1123C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1123						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTGTCTTTAAAGATATTCAT	0.517																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(3367-3369)tTt>tGt		mediator complex subunit 13-like							62.0	62.0	62.0					12																	116429391		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429391A>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3368T>G	12.37:g.116429391A>C	ENSP00000281928:p.Phe1123Cys						p.F1123C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3574	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1123					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3368T>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919337	0.52546	.	.	ENSG00000123066	ENST00000281928	D	0.83673	-1.75	5.18	5.18	0.71444	.	0.095205	0.64402	D	0.000001	D	0.89795	0.6818	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90960	0.4812	10	0.87932	D	0	.	15.1994	0.73122	1.0:0.0:0.0:0.0	.	1123	Q71F56	MD13L_HUMAN	C	1123	ENSP00000281928:F1123C	ENSP00000281928:F1123C	F	-	2	0	MED13L	114913774	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.761000	0.91691	2.180000	0.69256	0.377000	0.23210	TTT		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			41	41	0	0	0	1	0	41	41				
SPTA1	6708	broad.mit.edu	37	1	158644382	158644382	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:158644382G>A	ENST00000368147.4	-	9	1376	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	399					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACATCTGTTGGCAGCTCATC	0.512																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1195-1197)cCa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							157.0	151.0	153.0					1																	158644382		1991	4181	6172	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644382G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1196C>T	1.37:g.158644382G>A	ENSP00000357129:p.Pro399Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.P399L	p.P399L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			9	1376	-	all_hematologic(112;0.0378)		399					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1196C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266987	0.80469	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	5.04	5.04	0.67666	.	.	.	.	.	T	0.48995	0.1531	M	0.86502	2.82	0.58432	D	0.999998	P	0.38167	0.621	P	0.48873	0.593	T	0.54715	-0.8252	9	0.59425	D	0.04	.	15.9402	0.79747	0.0:0.0:1.0:0.0	.	399	P02549	SPTA1_HUMAN	L	399	ENSP00000357130:P399L;ENSP00000357129:P399L	ENSP00000357129:P399L	P	-	2	0	SPTA1	156911006	1.000000	0.71417	0.957000	0.39632	0.610000	0.37248	8.673000	0.91186	2.630000	0.89119	0.655000	0.94253	CCA		0.512	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	299	0	0	0	1	0	11	299				
PSMD1	5707	broad.mit.edu	37	2	231931688	231931688	+	Missense_Mutation	SNP	C	C	A	rs201274207	byFrequency	TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:231931688C>A	ENST00000308696.6	+	5	535	c.373C>A	c.(373-375)Cca>Aca	p.P125T	PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T|PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGAAAAAAAACCAATTGACCA	0.378													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18932	0.0		0.0	False		,,,				2504	0.0					ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(373-375)Cca>Aca		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)																																			SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231931688C>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.373C>A	2.37:g.231931688C>A	ENSP00000309474:p.Pro125Thr					PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T|PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T	p.P125T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	5	535	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	125					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.373C>A	CCDS2482.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.08|12.08	1.831237|1.831237	0.32329|0.32329	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643|ENST00000444007	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Armadillo-type fold (1);|.	0.247111|.	0.48767|.	D|.	0.000178|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.27053|0.27053	0.805|0.805	0.44890|0.44890	D|D	0.997903|0.997903	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.49679|0.49679	-0.8914|-0.8914	9|5	0.15499|.	T|.	0.54|.	-4.9741|-4.9741	15.7122|15.7122	0.77641|0.77641	0.0:0.8631:0.1369:0.0|0.0:0.8631:0.1369:0.0	.|.	125;125|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	T|N	125;125;131;125|24	.|.	ENSP00000309474:P125T|.	P|T	+|+	1|2	0|0	PSMD1|PSMD1	231639932|231639932	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.578000|2.578000	0.46051|0.46051	2.565000|2.565000	0.86533|0.86533	0.591000|0.591000	0.81541|0.81541	CCA|ACC		0.378	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			18	37	1	0	1.01871e-10	1	1.12058e-10	18	37				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	27	0	0	0	1	0	3	27				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	48	0	0	0	1	0	4	48				
TRPC6	7225	broad.mit.edu	37	11	101375232	101375232	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:101375232T>G	ENST00000344327.3	-	2	892	c.468A>C	c.(466-468)gaA>gaC	p.E156D	TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	156					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGAGAGGTTTTCTTTCTTGA	0.448																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(466-468)gaA>gaC		transient receptor potential cation channel, subfamily C, member 6							66.0	64.0	65.0					11																	101375232		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375232T>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.468A>C	11.37:g.101375232T>G	ENSP00000340913:p.Glu156Asp					TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D	p.E156D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	892	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	156					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.468A>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822268	0.32237	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.84	4.72	0.59763	Ankyrin repeat-containing domain (3);	0.151460	0.64402	D	0.000012	T	0.48021	0.1477	N	0.05510	-0.035	0.42650	D	0.993445	B;B;B	0.23490	0.016;0.086;0.019	B;B;B	0.29942	0.02;0.109;0.034	T	0.33599	-0.9862	10	0.16896	T	0.51	-7.8983	7.7933	0.29133	0.0:0.2329:0.0:0.7671	.	156;156;156	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	D	156	ENSP00000340913:E156D;ENSP00000435574:E156D;ENSP00000343672:E156D;ENSP00000353687:E156D	ENSP00000340913:E156D	E	-	3	2	TRPC6	100880442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.642000	0.24735	1.052000	0.40392	0.528000	0.53228	GAA		0.448	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		13	44	0	0	0	1	0	13	44				
TAB2	23118	broad.mit.edu	37	6	149718827	149718827	+	Missense_Mutation	SNP	A	A	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718827A>C	ENST00000367456.1	+	5	2268	c.1691A>C	c.(1690-1692)gAg>gCg	p.E564A	TAB2_ENST00000536230.1_Missense_Mutation_p.E532A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000286332.5_Missense_Mutation_p.E564A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	564					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TTAAAATCTGAGGTTAATGAA	0.368																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1690-1692)gAg>gCg		TGF-beta activated kinase 1/MAP3K7 binding protein 2							114.0	128.0	123.0					6																	149718827		2203	4298	6501	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149718827A>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1691A>C	6.37:g.149718827A>C	ENSP00000356426:p.Glu564Ala					TAB2_ENST00000286332.5_Missense_Mutation_p.E564A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|TAB2_ENST00000536230.1_Missense_Mutation_p.E532A	p.E564A			Q9NYJ8	TAB2_HUMAN			5	2268	+			564					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1691A>C	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070414	0.76301	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.70275	2.135	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.984	T	0.44097	-0.9350	10	0.87932	D	0	-7.311	15.0997	0.72266	1.0:0.0:0.0:0.0	.	532;564	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	A	532;564;564;564	ENSP00000443206:E532A;ENSP00000445752:E564A;ENSP00000356426:E564A;ENSP00000286332:E564A	ENSP00000286332:E564A	E	+	2	0	TAB2	149760520	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.780000	0.91799	2.028000	0.59812	0.383000	0.25322	GAG		0.368	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			5	130	0	0	0	1	0	5	130				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	105	0	0	0	1	0	5	105				
CEACAM6	4680	broad.mit.edu	37	19	42265395	42265395	+	Silent	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:42265395G>A	ENST00000199764.6	+	3	881	c.663G>A	c.(661-663)gcG>gcA	p.A221A	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	221	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGAACCCAGCGAGTGCCAACC	0.542																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(661-663)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							215.0	206.0	209.0					19																	42265395		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265395G>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.663G>A	19.37:g.42265395G>A						AC011513.4_ENST00000601409.1_RNA	p.A221A	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	3	881	+			221			Ig-like C2-type 1.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.663G>A	CCDS12585.1																																																																																				0.542	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			95	126	0	0	0	1	0	95	126				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	82	0	0	0	1	0	7	82				
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:17757753G>C	ENST00000379472.3	+	1	234	c.204G>C	c.(202-204)ctG>ctC	p.L68L	KCNC1_ENST00000265969.6_Silent_p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	68					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCACATCCTGAACTACTACC	0.672																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(202-204)ctG>ctC		potassium voltage-gated channel, Shaw-related subfamily, member 1							52.0	48.0	49.0					11																	17757753		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757753G>C	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.204G>C	11.37:g.17757753G>C						KCNC1_ENST00000265969.6_Silent_p.L68L	p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	234	+			68					K4DI87	Silent	SNP	ENST00000379472.3	37	c.204G>C	CCDS7827.1																																																																																				0.672	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		25	24	0	0	0	1	0	25	24				
MLLT1	4298	broad.mit.edu	37	19	6270667	6270667	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:6270667G>C	ENST00000252674.7	-	2	279	c.116C>G	c.(115-117)cCc>cGc	p.P39R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	39	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACATTGCTCGGGGCCGCGGAC	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(115-117)cCc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							119.0	91.0	100.0					19																	6270667		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270667G>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.116C>G	19.37:g.6270667G>C	ENSP00000252674:p.Pro39Arg		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.P39R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	279	-			39			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.116C>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806341	0.90623	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.86805	2.84	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.86473	0.1786	9	0.72032	D	0.01	-18.3509	16.6911	0.85322	0.0:0.0:1.0:0.0	.	39	Q03111	ENL_HUMAN	R	39	.	ENSP00000252674:P39R	P	-	2	0	MLLT1	6221667	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CCC		0.622	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		31	30	0	0	0	1	0	31	30				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	43	0	0	0	1	0	3	43				
NEB	4703	broad.mit.edu	37	2	152466570	152466570	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:152466570T>C	ENST00000172853.10	-	77	11501	c.11354A>G	c.(11353-11355)gAt>gGt	p.D3785G	NEB_ENST00000604864.1_Missense_Mutation_p.D4028G|NEB_ENST00000427231.2_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G			P20929	NEBU_HUMAN	nebulin	3785					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGATCATCTTCAATGCT	0.418																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12082-12084)gAt>gGt		nebulin							151.0	140.0	144.0					2																	152466570		1910	4134	6044	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466570T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11354A>G	2.37:g.152466570T>C	ENSP00000172853:p.Asp3785Gly					NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000172853.10_Missense_Mutation_p.D3785G|NEB_ENST00000604864.1_Missense_Mutation_p.D4028G	p.D4028G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12285	-			4027					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12083A>G		.	.	.	.	.	.	.	.	.	.	T	28.6	4.938563	0.92526	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.75	5.75	0.90469	.	0.051380	0.85682	D	0.000000	T	0.79052	0.4381	M	0.85630	2.765	0.80722	D	1	P	0.41710	0.76	P	0.49421	0.61	T	0.82476	-0.0438	10	0.87932	D	0	.	16.3473	0.83146	0.0:0.0:0.0:1.0	.	3785	P20929	NEBU_HUMAN	G	3785;4028;4028;3785	ENSP00000386259:D3785G;ENSP00000380505:D4028G;ENSP00000416578:D4028G;ENSP00000172853:D3785G	ENSP00000172853:D3785G	D	-	2	0	NEB	152174816	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.948000	0.87774	2.320000	0.78422	0.528000	0.53228	GAT		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		19	31	0	0	0	1	0	19	31				
MLPH	79083	broad.mit.edu	37	2	238419387	238419387	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:238419387G>A	ENST00000264605.3	+	3	575	c.281G>A	c.(280-282)cGc>cAc	p.R94H	MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.R94H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	94	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGCTGTGGCCGCGTCCACCCG	0.597																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(280-282)cGc>cAc		melanophilin							43.0	43.0	43.0					2																	238419387		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238419387G>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.281G>A	2.37:g.238419387G>A	ENSP00000264605:p.Arg94His					MLPH_ENST00000445024.2_Missense_Mutation_p.R94H|MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H	p.R94H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	3	575	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	94			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.281G>A	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769038	0.02974	.	.	ENSG00000115648	ENST00000422695;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.77	-1.59	0.08453	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.458353	0.24970	N	0.034142	T	0.53786	0.1818	N	0.08118	0	0.29815	N	0.831288	B;B;B;B;B;B	0.11235	0.001;0.001;0.0;0.002;0.0;0.004	B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001;0.001	T	0.37820	-0.9689	10	0.23302	T	0.38	-7.7209	12.0521	0.53513	0.1816:0.0:0.8184:0.0	.	94;94;94;94;94;94	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	H	94	ENSP00000409170:R94H;ENSP00000386338:R94H;ENSP00000264605:R94H;ENSP00000414849:R94H;ENSP00000341845:R94H;ENSP00000386780:R94H	ENSP00000264605:R94H	R	+	2	0	MLPH	238084126	0.240000	0.23847	0.048000	0.18961	0.064000	0.16182	1.125000	0.31332	-0.603000	0.05767	-0.253000	0.11424	CGC		0.597	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		3	46	0	0	0	1	0	3	46				
JOSD2	126119	broad.mit.edu	37	19	51013652	51013652	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:51013652T>C	ENST00000598418.1	-	2	290	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A|JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	13	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TGGTACACGGTGGGTGGGCTC	0.662																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(37-39)Acc>Gcc		Josephin domain containing 2							80.0	81.0	81.0					19																	51013652		2203	4300	6503	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51013652T>C	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.37A>G	19.37:g.51013652T>C	ENSP00000468956:p.Thr13Ala					JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A|JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A	p.T13A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	2	290	-		all_neural(266;0.131)	13			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.37A>G	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658159	0.14645	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.40225	1.04	3.18	-1.76	0.08006	.	0.520561	0.17288	N	0.179754	T	0.14657	0.0354	N	0.08118	0	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10543	-1.0625	10	0.22706	T	0.39	-5.7597	0.4217	0.00457	0.3047:0.1902:0.1245:0.3805	.	33;13	Q7Z7N5;Q8TAC2	.;JOS2_HUMAN	A	33;13	ENSP00000375691:T13A	ENSP00000293431:T33A	T	-	1	0	JOSD2	55705464	0.018000	0.18449	0.897000	0.35233	0.744000	0.42396	0.394000	0.20834	-0.293000	0.08986	-0.568000	0.04159	ACC		0.662	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		42	43	0	0	0	1	0	42	43				
ANKHD1	54882	broad.mit.edu	37	5	139889715	139889715	+	Silent	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:139889715G>A	ENST00000360839.2	+	22	4207	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V|ANKHD1_ENST00000297183.6_Silent_p.V1351V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1351						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGATGTGGATGCAGCAG	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4051-4053)gtG>gtA		ankyrin repeat and KH domain containing 1							131.0	122.0	125.0					5																	139889715		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139889715G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4053G>A	5.37:g.139889715G>A						ANKHD1_ENST00000360839.2_Silent_p.V1351V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V	p.V1351V	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4177	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.4053G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	g	8.994	0.978543	0.18812	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.54	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4506	0.21902	0.2006:0.0:0.6727:0.1267	.	.	.	.	X	577	.	.	W	+	2	0	ANKHD1	139869899	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.380000	0.52448	0.408000	0.25621	-0.941000	0.02677	TGG		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	56	0	0	0	1	0	8	56				
MGAT4A	11320	broad.mit.edu	37	2	99256446	99256446	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99256446G>A	ENST00000264968.3	-	11	1510	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S|MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000393487.1_Missense_Mutation_p.P383S			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	383					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGAAGTAATGGTTTCATATAA	0.343																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1147-1149)Cca>Tca		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							64.0	68.0	67.0					2																	99256446		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256446G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1147C>T	2.37:g.99256446G>A	ENSP00000264968:p.Pro383Ser					MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000264968.2_Missense_Mutation_p.P383S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S	p.P383S	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			12	1460	-			383					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.1147C>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371794	0.24857	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.21932	1.99;1.98;1.99;1.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.41079	1.255	0.80722	D	1	P;D	0.89917	0.615;1.0	B;D	0.83275	0.158;0.996	T	0.02781	-1.1111	10	0.08599	T	0.76	-2.1988	18.6821	0.91549	0.0:0.0:1.0:0.0	.	255;383	E9PEN2;Q9UM21	.;MGT4A_HUMAN	S	383;255;383;383	ENSP00000377127:P383S;ENSP00000404889:P255S;ENSP00000264968:P383S;ENSP00000386841:P383S	ENSP00000264968:P383S	P	-	1	0	MGAT4A	98622878	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.549000	0.73900	2.656000	0.90262	0.557000	0.71058	CCA		0.343	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		6	65	0	0	0	1	0	6	65				
EIF5B	9669	broad.mit.edu	37	2	99978277	99978277	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99978277G>T	ENST00000289371.6	+	4	1115	c.913G>T	c.(913-915)Gca>Tca	p.A305S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	305					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCCACAGCTGCAGAAGGTTG	0.388																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(913-915)Gca>Tca		eukaryotic translation initiation factor 5B							78.0	77.0	78.0					2																	99978277		1846	4079	5925	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99978277G>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.913G>T	2.37:g.99978277G>T	ENSP00000289371:p.Ala305Ser						p.A305S	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	1115	+			305					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.913G>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702343	0.15172	.	.	ENSG00000158417	ENST00000289371	T	0.45276	0.9	5.92	0.335	0.15953	.	.	.	.	.	T	0.24470	0.0593	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.20306	-1.0279	8	.	.	.	-0.9202	3.3321	0.07088	0.1526:0.237:0.4886:0.1218	.	305	O60841	IF2P_HUMAN	S	305	ENSP00000289371:A305S	.	A	+	1	0	EIF5B	99344709	0.011000	0.17503	0.001000	0.08648	0.996000	0.88848	1.032000	0.30178	0.043000	0.15746	0.655000	0.94253	GCA		0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		4	170	1	0	0.150653	1	0.154157	4	170				
SLC22A5	6584	broad.mit.edu	37	5	131719958	131719958	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:131719958G>C	ENST00000245407.3	+	3	838	c.617G>C	c.(616-618)gGc>gCc	p.G206A	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	206					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GTAGGCATGGGCCAGATCTCC	0.483																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(616-618)gGc>gCc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						248.0	204.0	219.0					5																	131719958		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131719958G>C	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.617G>C	5.37:g.131719958G>C	ENSP00000245407:p.Gly206Ala					SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A	p.G206A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	838	+		all_cancers(142;0.0751)|Breast(839;0.198)	206					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.617G>C	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964156	0.74131	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.62639	0.01;0.01;0.01	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.095987	0.64402	D	0.000001	T	0.69797	0.3151	L	0.39898	1.24	0.49483	D	0.999799	D;D	0.60575	0.988;0.988	P;P	0.61722	0.893;0.893	T	0.62927	-0.6750	10	0.20046	T	0.44	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	230;206	A2Q0V1;O76082	.;S22A5_HUMAN	A	206;230;129	ENSP00000245407:G206A;ENSP00000402760:G230A;ENSP00000388838:G129A	ENSP00000245407:G206A	G	+	2	0	SLC22A5	131747857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	2.626000	0.88956	0.655000	0.94253	GGC		0.483	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		31	49	0	0	0	1	0	31	49				
ARHGEF19	128272	broad.mit.edu	37	1	16532568	16532568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:16532568delC	ENST00000270747.3	-	8	1445	c.1309delG	c.(1309-1311)gacfs	p.D437fs	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	437	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTCCTGCAGGAAC	0.657																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1309-1311)acfs		Rho guanine nucleotide exchange factor (GEF) 19							23.0	23.0	23.0					1																	16532568		2199	4296	6495	SO:0001589	frameshift_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532568delC	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1309delG	1.37:g.16532568delC	ENSP00000270747:p.Asp437fs					ARHGEF19_ENST00000421561.1_Frame_Shift_Del_p.D437fs|ARHGEF19_ENST00000478117.1_5'UTR	p.D437fs	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1445	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	437			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Frame_Shift_Del	DEL	ENST00000270747.3	37	c.1309delG	CCDS170.1																																																																																				0.657	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		2	4						2	4	---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	25944705	25944705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:25944705delC	ENST00000374332.4	+	1	747	c.417delC	c.(415-417)gtcfs	p.V139fs	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	139					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACGAGGGCGTCCCTTTCCGCT	0.716																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(415-417)gtfs		mannosidase, alpha, class 1C, member 1							8.0	7.0	7.0					1																	25944705		1793	3666	5459	SO:0001589	frameshift_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944705delC	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.417delC	1.37:g.25944705delC	ENSP00000363452:p.Val139fs					MAN1C1_ENST00000263979.3_5'UTR	p.V139fs	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	747	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	139					A6NNE2|B2RNP2|Q9Y545	Frame_Shift_Del	DEL	ENST00000374332.4	37	c.417delC	CCDS265.1																																																																																				0.716	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		2	4						2	4	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	306						7	306	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	284802							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	121						7	121	---	---	---	---
SCARNA15	677778	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs570251544|rs79619980	byFrequency	TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr20:41933319delA	ENST00000516384.1	+	0	125									small Cajal body-specific RNA 15																		TATCaatagcaaaaaaaaaaa	0.318													|||unknown(HR)	672	0.134185	0.115	0.1556	5008	,	,		15276	0.1161		0.1431	False		,,,				2504	0.1544					ENST00000516384.1																			0																																																			677778							g.chr20:41933319delA	AJ609485		15q25.2	2013-09-05			ENSG00000252690	ENSG00000252690		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32572	non-coding RNA	RNA, small nucleolar		612675					Standard	NR_003011		Approved	ACA45	uc002bjc.3				20.37:g.41933319delA														0	125	+									RNA	DEL	ENST00000516384.1	37																																																																																						0.318	SCARNA15.1-201	NOVEL	basic	snoRNA	snoRNA		NR_003011		2	4						2	4	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142506	53142507	+	lincRNA	INS	-	-	A	rs372497626		TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													|||unknown(STR2?)	311	0.0823841	0.0265	0.0346	3775	,	,		12801	0.0565		0.1163	False		,,,				2504	0.0798					ENST00000604849.1																			0																																																			102723508							g.chrX:53142506_53142507insA																													X.37:g.53142507_53142507dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			4	6						4	6	---	---	---	---
