#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
BBOX1	8424	broad.mit.edu	37	11	27077073	27077073	+	Silent	SNP	A	A	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:27077073A>G	ENST00000529202.1	+	2	435	c.96A>G	c.(94-96)gtA>gtG	p.V32V	BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Silent_p.V32V|BBOX1_ENST00000527505.1_3'UTR			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	32					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCAGCTGTATGGTTGAGAG	0.468																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(94-96)gtA>gtG		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						103.0	93.0	97.0					11																	27077073		2202	4299	6501	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077073A>G	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.96A>G	11.37:g.27077073A>G						BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Silent_p.V32V|BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V|RP11-1L12.3_ENST00000526061.1_RNA	p.V32V	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	464	+			32					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.96A>G	CCDS7862.1																																																																																				0.468	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		7	43	0	0	0	1	0	7	43				
SGCZ	137868	broad.mit.edu	37	8	13959903	13959903	+	Silent	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:13959903C>T	ENST00000382080.1	-	7	1441	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SGCZ_ENST00000421524.2_Silent_p.L195L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	229					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGTAGATTGCAGATGGAGCT	0.507																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(724-726)ctG>ctA		sarcoglycan, zeta							80.0	80.0	80.0					8																	13959903		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959903C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.726G>A	8.37:g.13959903C>T						SGCZ_ENST00000421524.2_Silent_p.L195L	p.L242L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1441	-			229					Q6REU0	Silent	SNP	ENST00000382080.1	37	c.726G>A	CCDS5992.2																																																																																				0.507	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		3	47	0	0	0	1	0	3	47				
FOXK2	3607	broad.mit.edu	37	17	80541951	80541951	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:80541951C>G	ENST00000335255.5	+	6	1340	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	snoU13_ENST00000459591.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	389					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GGCGCCCAGACCCCTGAGAGC	0.632																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1165-1167)aCc>aGc		forkhead box K2							39.0	39.0	39.0					17																	80541951		2201	4300	6501	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80541951C>G	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1166C>G	17.37:g.80541951C>G	ENSP00000335677:p.Thr389Ser						p.T389S	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		6	1340	+	Breast(20;0.00106)|all_neural(118;0.0952)		389					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1166C>G	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604215	0.87157	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.94046	-3.34	5.46	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.64170	1.965	0.52099	D	0.999948	P;P	0.51147	0.942;0.815	P;P	0.51945	0.685;0.674	D	0.92444	0.5964	10	0.32370	T	0.25	.	14.409	0.67103	0.0:0.9291:0.0:0.0709	.	389;389	Q01167;Q01167-2	FOXK2_HUMAN;.	S	385;389	ENSP00000335677:T389S	ENSP00000335677:T389S	T	+	2	0	FOXK2	78135240	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.842000	0.62831	1.309000	0.44985	0.655000	0.94253	ACC		0.632	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		3	29	0	0	0	1	0	3	29				
CALML6	163688	broad.mit.edu	37	1	1848242	1848242	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr1:1848242A>T	ENST00000307786.3	+	4	759	c.305A>T	c.(304-306)cAt>cTt	p.H102L	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	102	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGAGTTTACCATGAGAAGGCC	0.562																																						ENST00000307786.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(304-306)cAt>cTt		calmodulin-like 6							120.0	132.0	128.0					1																	1848242		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848242A>T	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.305A>T	1.37:g.1848242A>T	ENSP00000304643:p.His102Leu					CALML6_ENST00000462293.1_3'UTR	p.H102L	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	759	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	102			EF-hand 2.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.305A>T	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275239	0.10403	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.34072	1.38;1.38	3.08	-3.82	0.04281	EF-hand-like domain (1);	.	.	.	.	T	0.16557	0.0398	N	0.14661	0.345	0.09310	N	1	B	0.26935	0.164	B	0.17433	0.018	T	0.18903	-1.0322	9	0.87932	D	0	.	4.1022	0.10018	0.3729:0.343:0.2842:0.0	.	102	Q8TD86	CALL6_HUMAN	L	102;85	ENSP00000304643:H102L;ENSP00000367867:H85L	ENSP00000304643:H102L	H	+	2	0	CALML6	1838102	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	1.031000	0.30165	-0.642000	0.05480	0.260000	0.18958	CAT		0.562	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		9	107	0	0	0	1	0	9	107				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		3	21	0	0	0	1	0	3	21				
DACH2	117154	broad.mit.edu	37	X	85906101	85906101	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:85906101A>G	ENST00000373125.4	+	4	703	c.703A>G	c.(703-705)Aac>Gac	p.N235D	DACH2_ENST00000508860.1_Missense_Mutation_p.N68D|DACH2_ENST00000373131.1_Missense_Mutation_p.N222D|DACH2_ENST00000510272.1_Missense_Mutation_p.N16D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	235					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TATGGCTATGAACACTCTTCA	0.408																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(664-666)Aac>Gac		dachshund homolog 2 (Drosophila)							96.0	75.0	82.0					X																	85906101		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906101A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.703A>G	X.37:g.85906101A>G	ENSP00000362217:p.Asn235Asp					DACH2_ENST00000510272.1_Missense_Mutation_p.N16D|DACH2_ENST00000373125.4_Missense_Mutation_p.N235D|DACH2_ENST00000508860.1_Missense_Mutation_p.N68D	p.N222D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			3	827	+			235					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.664A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774286	0.69992	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.84660	-1.86;-1.88	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	D	0.85008	0.5599	L	0.47716	1.5	0.46874	D	0.999238	D;P;P	0.63046	0.992;0.868;0.774	P;P;B	0.55785	0.784;0.712;0.416	T	0.81353	-0.0971	10	0.11182	T	0.66	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	101;222;235	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	D	235;222;235;68;16;68	ENSP00000362223:N222D;ENSP00000362217:N235D	ENSP00000345134:N235D	N	+	1	0	DACH2	85792757	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	6.576000	0.74023	1.452000	0.47756	0.417000	0.27973	AAC		0.408	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	16	0	0	0	1	0	9	16				
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		zinc finger and BTB domain containing 9							61.0	61.0	61.0					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A							p.E215E	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	57	0	0	0	1	0	3	57				
ACOT9	23597	broad.mit.edu	37	X	23723894	23723894	+	Silent	SNP	G	G	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:23723894G>A	ENST00000336430.7	-	11	1028	c.897C>T	c.(895-897)tgC>tgT	p.C299C	ACOT9_ENST00000379295.1_Silent_p.C239C|ACOT9_ENST00000379303.5_Silent_p.C308C	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	299					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCTGAGGGTGGCAAATTTCCA	0.373																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(922-924)tgC>tgT		acyl-CoA thioesterase 9							115.0	130.0	125.0					X																	23723894		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723894G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.897C>T	X.37:g.23723894G>A						ACOT9_ENST00000336430.7_Silent_p.C299C|ACOT9_ENST00000379295.1_Silent_p.C239C	p.C308C	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			12	1052	-			299					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.924C>T	CCDS35216.1																																																																																				0.373	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		5	236	0	0	0	1	0	5	236				
SLCO1B7	338821	broad.mit.edu	37	12	21176193	21176193	+	Missense_Mutation	SNP	G	G	A	rs569319854		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr12:21176193G>A	ENST00000421593.2	+	5	558	c.558G>A	c.(556-558)atG>atA	p.M186I	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.M233I|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M233I	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGCTAAAATGTATGTGGATA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16000	0.0		0.001	False		,,,				2504	0.0					ENST00000381541.3																			0											c.(697-699)atG>atA									181.0	186.0	184.0					12																	21176193		2179	4293	6472	SO:0001583	missense	0							g.chr12:21176193G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.558G>A	12.37:g.21176193G>A	ENSP00000394168:p.Met186Ile					SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M233I|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.M186I	p.M233I							6	764	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.699G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	3.952	-0.012074	0.07727	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80480	-1.38;-1.38;1.31	2.54	0.448	0.16614	.	0.369828	0.30593	N	0.009286	T	0.48169	0.1485	N	0.02169	-0.655	0.22648	N	0.998894	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.36768	-0.9734	10	0.19147	T	0.46	.	4.1647	0.10301	0.2455:0.1892:0.5653:0.0	.	186;233	G3V0H7;F5H094	.;.	I	233;233;186	ENSP00000370952:M233I;ENSP00000452013:M233I;ENSP00000394168:M186I	ENSP00000370952:M233I	M	+	3	0	SLCO1B7;RP11-545J16.1	21067460	0.057000	0.20700	0.802000	0.32245	0.710000	0.40934	-0.814000	0.04486	-0.047000	0.13423	0.195000	0.17529	ATG		0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		3	18	0	0	0	1	0	3	18				
AMER1	139285	broad.mit.edu	37	X	63411230	63411230	+	Missense_Mutation	SNP	C	C	T	rs147754688	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:63411230C>T	ENST00000330258.3	-	2	2209	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	AMER1_ENST00000403336.1_Missense_Mutation_p.R646Q|AMER1_ENST00000374869.3_Missense_Mutation_p.R646Q	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	646					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTCTCCTGCCGGGCCTGGGT	0.612													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11763	0.0		0.0	False		,,,				2504	0.0					ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1936-1938)cGg>cAg		APC membrane recruitment protein 1							26.0	25.0	25.0					X																	63411230		2203	4299	6502	SO:0001583	missense	139285							g.chrX:63411230C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1937G>A	X.37:g.63411230C>T	ENSP00000329117:p.Arg646Gln					AMER1_ENST00000403336.1_Missense_Mutation_p.R646Q|AMER1_ENST00000374869.3_Missense_Mutation_p.R646Q	p.R646Q	NM_152424.3	NP_689637.3					2	2209	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1937G>A	CCDS14377.2	2	0.0012055455093429777	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	1.346	-0.592812	0.03771	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.48836	0.92;0.8;0.92	5.21	-0.738	0.11125	.	1.395690	0.04355	N	0.356433	T	0.30947	0.0781	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21861	-1.0233	10	0.26408	T	0.33	6.032	9.7257	0.40330	0.0:0.456:0.0:0.544	.	646	Q5JTC6	F123B_HUMAN	Q	646	ENSP00000364003:R646Q;ENSP00000329117:R646Q;ENSP00000384722:R646Q	ENSP00000329117:R646Q	R	-	2	0	FAM123B	63327955	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.353000	0.02617	-0.200000	0.10300	0.600000	0.82982	CGG		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	23	0	0	0	1	0	13	23				
BCRP7	100133163	broad.mit.edu	37	22	18845963	18845963	+	3'UTR	SNP	C	C	T	rs4296518		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:18845963C>T	ENST00000412938.1	+	0	3321																											GATCTCATCGCGGACACCACT	0.517																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845963C>T																												ENST00000412938.1:c.*3318C>T	22.37:g.18845963C>T														0	3321	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.517	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	35	0	0	0	1	0	4	35				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	31	0	0	0	1	0	14	31				
MLLT6	4302	broad.mit.edu	37	17	36871961	36871961	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:36871961C>T	ENST00000325718.7	+	9	1007	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTCTTCCAGCCATAGCCTGAG	0.562			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(916-918)Cat>Tat		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							126.0	121.0	123.0					17																	36871961		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36871961C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.916C>T	17.37:g.36871961C>T	ENSP00000316426:p.His306Tyr					CTB-58E17.9_ENST00000579499.1_RNA	p.H306Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			9	1007	+	Breast(7;4.43e-21)		306					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.916C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397785	0.62177	.	.	ENSG00000108292	ENST00000325718	T	0.80909	-1.43	4.91	4.91	0.64330	.	0.138146	0.47093	D	0.000244	D	0.86184	0.5872	M	0.71036	2.16	0.38240	D	0.941304	P	0.45126	0.851	P	0.55391	0.775	D	0.86671	0.1910	10	0.38643	T	0.18	.	14.944	0.71016	0.0:1.0:0.0:0.0	.	306	P55198	AF17_HUMAN	Y	306	ENSP00000316426:H306Y	ENSP00000316426:H306Y	H	+	1	0	MLLT6	34125487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.981000	0.63819	2.571000	0.86741	0.563000	0.77884	CAT		0.562	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		10	23	0	0	0	1	0	10	23				
RIN2	54453	broad.mit.edu	37	20	19955639	19955639	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr20:19955639C>T	ENST00000255006.6	+	8	1266	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	324					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACAAGCCCTCGGCTGGCCAG	0.602																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1117-1119)Cgg>Tgg		Ras and Rab interactor 2							80.0	85.0	84.0					20																	19955639		1954	4156	6110	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955639C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1117C>T	20.37:g.19955639C>T	ENSP00000255006:p.Arg373Trp					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	p.R373W	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1266	+			324					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1117C>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637434	0.67130	.	.	ENSG00000132669	ENST00000255006	T	0.09255	3.0	5.59	3.64	0.41730	.	0.996321	0.08142	N	0.991484	T	0.05640	0.0148	N	0.08118	0	0.80722	D	1	D	0.54047	0.964	B	0.32805	0.153	T	0.50939	-0.8768	9	.	.	.	-2.4601	15.3116	0.74039	0.0:0.6515:0.3485:0.0	.	324	Q8WYP3	RIN2_HUMAN	W	373	ENSP00000255006:R373W	.	R	+	1	2	RIN2	19903639	0.872000	0.30054	0.999000	0.59377	0.974000	0.67602	1.551000	0.36233	0.706000	0.31912	-0.211000	0.12701	CGG		0.602	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			6	41	0	0	0	1	0	6	41				
EHD1	10938	broad.mit.edu	37	11	64622163	64622163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:64622163C>T	ENST00000320631.3	-	5	1501	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	EHD1_ENST00000359393.2_Missense_Mutation_p.G416D|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	416					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTTCATGGTGCCGTCAAAGGC	0.672																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1246-1248)gGc>gAc		EH-domain containing 1							124.0	113.0	116.0					11																	64622163		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622163C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1247G>A	11.37:g.64622163C>T	ENSP00000320516:p.Gly416Asp					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.G416D	p.G416D	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1501	-			416					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1247G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894224	0.52121	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.44482	2.25;2.25;0.92	4.56	4.56	0.56223	.	0.096470	0.64402	D	0.000001	T	0.42630	0.1211	M	0.62154	1.92	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.42849	-0.9427	10	0.59425	D	0.04	.	14.8614	0.70384	0.0:1.0:0.0:0.0	.	416;416	B2R5U3;Q9H4M9	.;EHD1_HUMAN	D	416;416;392;280	ENSP00000320516:G416D;ENSP00000352354:G416D;ENSP00000391429:G280D	ENSP00000320516:G416D	G	-	2	0	EHD1	64378739	1.000000	0.71417	0.967000	0.41034	0.347000	0.29111	7.576000	0.82467	2.381000	0.81170	0.561000	0.74099	GGC		0.672	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		7	171	0	0	0	1	0	7	171				
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1054-1056)ccA>ccC		GRB2-associated binding protein 2							44.0	51.0	49.0					11																	77937662		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937662T>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G						GAB2_ENST00000340149.2_Silent_p.P314P	p.P352P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1141	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		352					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1056A>C	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		6	53	0	0	0	1	0	6	53				
DENND3	22898	broad.mit.edu	37	8	142185447	142185447	+	Silent	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:142185447C>T	ENST00000262585.2	+	14	2462	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	DENND3_ENST00000519811.1_Silent_p.S808S|DENND3_ENST00000424248.1_Silent_p.S676S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	728					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCAGCTCCGTCAAGACAA	0.547											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2422-2424)tcC>tcT		DENN/MADD domain containing 3							147.0	126.0	133.0					8																	142185447		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142185447C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2184C>T	8.37:g.142185447C>T			OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1669	DENND3_ENST00000262585.2_Silent_p.S728S|DENND3_ENST00000424248.1_Silent_p.S676S	p.S808S			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		14	2494	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		728					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2424C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.527951	0.04112	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.94	-6.11	0.02131	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-12.0667	1.552	0.02577	0.1423:0.2862:0.2999:0.2717	.	.	.	.	C	733	.	.	R	+	1	0	DENND3	142254629	0.000000	0.05858	0.563000	0.28383	0.157000	0.22087	-2.697000	0.00826	-0.767000	0.04633	-0.424000	0.05967	CGT		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		24	38	0	0	0	1	0	24	38				
TRIM27	5987	broad.mit.edu	37	6	28887928	28887928	+	Missense_Mutation	SNP	C	C	T	rs545778548		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:28887928C>T	ENST00000377199.3	-	3	964	c.608G>A	c.(607-609)cGc>cAc	p.R203H	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	203					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCTCAAGGCGGGCCAGGAG	0.517			T	RET	papillary thyroid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20031	0.0		0.0	False		,,,				2504	0.0					ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(607-609)cGc>cAc		tripartite motif containing 27							212.0	187.0	196.0					6																	28887928		2203	4300	6503	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28887928C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.608G>A	6.37:g.28887928C>T	ENSP00000366404:p.Arg203His					TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H	p.R203H	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			3	964	-			203					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.608G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615738	0.46631	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.63096	0.5;-0.02	4.7	4.7	0.59300	.	0.000000	0.49305	D	0.000152	T	0.37732	0.1014	L	0.56340	1.77	0.29491	N	0.855615	B;B;D	0.54207	0.44;0.293;0.965	B;B;B	0.38156	0.028;0.012;0.266	T	0.43798	-0.9369	10	0.51188	T	0.08	.	9.5284	0.39178	0.0:0.901:0.0:0.099	.	270;203;203	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	H	203	ENSP00000366404:R203H;ENSP00000366399:R203H	ENSP00000366399:R203H	R	-	2	0	TRIM27	28995907	0.000000	0.05858	0.995000	0.50966	0.941000	0.58515	-0.051000	0.11885	2.530000	0.85305	0.655000	0.94253	CGC		0.517	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		18	115	0	0	0	1	0	18	115				
ZAK	51776	broad.mit.edu	37	2	174131122	174131122	+	Missense_Mutation	SNP	C	C	T	rs180986176	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:174131122C>T	ENST00000375213.3	+	20	2125	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R683C	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		683					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAAATATGGACGTGGTAGTAT	0.458													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		20806	0.0		0.0	False		,,,				2504	0.0					ENST00000375213.3																			0											c.(2047-2049)Cgt>Tgt				C	CYS/ARG	32,3788		0,32,1878	99.0	101.0	100.0		2047	4.9	0.2	2		100	0,8232		0,0,4116	yes	missense	ZAK	NM_016653.2	180	0,32,5994	TT,TC,CC		0.0,0.8377,0.2655	probably-damaging	683/801	174131122	32,12020	1910	4116	6026	SO:0001583	missense	0							g.chr2:174131122C>T																												ENST00000375213.3:c.2047C>T	2.37:g.174131122C>T	ENSP00000364361:p.Arg683Cys					MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R683C|MLK7-AS1_ENST00000422703.1_RNA	p.R683C	NM_016653.2	NP_057737.2					20	2125	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2047C>T	CCDS42777.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	18.90	3.722150	0.68959	0.008377	0.0	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.76186	-1.0;-1.0	5.86	4.95	0.65309	.	0.227351	0.44483	D	0.000459	T	0.65344	0.2682	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.50490	0.642	T	0.73811	-0.3865	10	0.72032	D	0.01	.	16.3829	0.83481	0.1323:0.8677:0.0:0.0	.	683	Q9NYL2	MLTK_HUMAN	C	683	ENSP00000387259:R683C;ENSP00000364361:R683C	ENSP00000364361:R683C	R	+	1	0	AC013461.1	173839368	0.340000	0.24792	0.250000	0.24296	0.915000	0.54546	2.695000	0.47043	2.781000	0.95711	0.591000	0.81541	CGT		0.458	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			23	41	0	0	0	1	0	23	41				
SLK	9748	broad.mit.edu	37	10	105762041	105762041	+	Missense_Mutation	SNP	C	C	T	rs140715399		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr10:105762041C>T	ENST00000369755.3	+	9	1650	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	SLK_ENST00000335753.4_Missense_Mutation_p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	369	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAAACAGAACGTAGTAACTC	0.368																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(1105-1107)Cgt>Tgt		STE20-like kinase		C	CYS/ARG	0,4406		0,0,2203	87.0	94.0	92.0		1105	3.6	0.8	10	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLK	NM_014720.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	369/1236	105762041	2,13004	2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762041C>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1105C>T	10.37:g.105762041C>T	ENSP00000358770:p.Arg369Cys					SLK_ENST00000335753.4_Missense_Mutation_p.R369C	p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1650	+		Colorectal(252;0.178)	369			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1105C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515814	0.27123	0.0	2.33E-4	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69926	-0.44;-0.44	5.49	3.6	0.41247	Protein kinase-like domain (1);	1.049750	0.07317	N	0.876993	T	0.60183	0.2249	L	0.44542	1.39	0.25159	N	0.990365	P;P	0.50710	0.938;0.897	B;B	0.40101	0.319;0.17	T	0.48822	-0.9001	10	0.51188	T	0.08	.	11.012	0.47667	0.2717:0.6098:0.1184:0.0	.	369;369	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	C	369	ENSP00000336824:R369C;ENSP00000358770:R369C	ENSP00000336824:R369C	R	+	1	0	SLK	105752031	0.007000	0.16637	0.756000	0.31282	0.687000	0.40016	0.689000	0.25437	0.651000	0.30788	0.455000	0.32223	CGT		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		14	134	0	0	0	1	0	14	134				
TRMT2A	27037	broad.mit.edu	37	22	20104015	20104015	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:20104015C>A	ENST00000252136.7	-	2	533	c.145G>T	c.(145-147)Gcg>Tcg	p.A49S	TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	49					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCTGTAGCCGCCCCAGCGCCC	0.647																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(145-147)Gcg>Tcg		tRNA methyltransferase 2 homolog A (S. cerevisiae)							20.0	26.0	24.0					22																	20104015		2160	4180	6340	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104015C>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.145G>T	22.37:g.20104015C>A	ENSP00000252136:p.Ala49Ser					RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S	p.A49S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	533	-			49					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.145G>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059246	0.19987	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.41758	0.99;0.99;0.99	4.67	1.3	0.21679	.	0.595355	0.17522	N	0.171210	T	0.18425	0.0442	N	0.14661	0.345	0.18873	N	0.999986	B;B;B	0.15141	0.012;0.004;0.004	B;B;B	0.12156	0.007;0.003;0.002	T	0.25502	-1.0130	10	0.07644	T	0.81	-8.666	4.7073	0.12856	0.1414:0.4876:0.2915:0.0795	.	49;49;49	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	S	49;49;49;49;37	ENSP00000252136:A49S;ENSP00000385807:A49S;ENSP00000395738:A49S	ENSP00000252136:A49S	A	-	1	0	TRMT2A	18484015	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.059000	0.11731	0.187000	0.20147	0.491000	0.48974	GCG		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	44	1	0	0.115264	1	0.115264	3	44				
SLC30A8	169026	broad.mit.edu	37	8	118183316	118183316	+	Silent	SNP	T	T	A			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:118183316T>A	ENST00000456015.2	+	7	873	c.873T>A	c.(871-873)atT>atA	p.I291I	SLC30A8_ENST00000427715.2_Silent_p.I242I|SLC30A8_ENST00000521243.1_Silent_p.I242I|SLC30A8_ENST00000519688.1_Silent_p.I242I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	291					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AAGAGCTTATTTTAGCAGTCG	0.453																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(724-726)atT>atA		solute carrier family 30 (zinc transporter), member 8							172.0	158.0	163.0					8																	118183316		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118183316T>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.873T>A	8.37:g.118183316T>A						SLC30A8_ENST00000519688.1_Silent_p.I242I|SLC30A8_ENST00000456015.2_Silent_p.I291I|SLC30A8_ENST00000521243.1_Silent_p.I242I	p.I242I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		10	1160	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		291					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.726T>A	CCDS6322.1																																																																																				0.453	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		9	92	0	0	0	1	0	9	92				
HUWE1	10075	broad.mit.edu	37	X	53576145	53576145	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:53576145G>T	ENST00000342160.3	-	66	10267	c.9810C>A	c.(9808-9810)gaC>gaA	p.D3270E	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3270					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGTAGCAGGTCCAGGGGAC	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9808-9810)gaC>gaA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							157.0	129.0	138.0					X																	53576145		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576145G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9810C>A	X.37:g.53576145G>T	ENSP00000340648:p.Asp3270Glu					HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E	p.D3270E			Q7Z6Z7	HUWE1_HUMAN			66	10267	-			3270					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9810C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.838|8.838	0.941435|0.941435	0.18281|0.18281	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.34667|.	1.35;1.35|.	5.88|5.88	2.17|2.17	0.27698|0.27698	.|.	0.196185|.	0.43416|.	D|.	0.000569|.	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.03324|0.03324	-0.35|-0.35	0.33133|0.33133	D|D	0.543354|0.543354	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.23762|0.23762	-1.0179|-1.0179	10|5	0.07644|.	T|.	0.81|.	.|.	4.419|4.419	0.11470|0.11470	0.3305:0.0:0.5201:0.1493|0.3305:0.0:0.5201:0.1493	.|.	3270;3254|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	E|T	3270|2304;108	ENSP00000340648:D3270E;ENSP00000262854:D3270E|.	ENSP00000262854:D3270E|.	D|P	-|-	3|1	2|0	HUWE1|HUWE1	53592870|53592870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.688000|0.688000	0.25422|0.25422	0.250000|0.250000	0.21479|0.21479	0.600000|0.600000	0.82982|0.82982	GAC|CCT		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		29	138	1	0	3.65163e-15	1	4.01679e-15	29	138				
SHANK2	22941	broad.mit.edu	37	11	70507799	70507799	+	Intron	SNP	C	C	T			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:70507799C>T	ENST00000423696.2	-	6	753				SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAGAATTCCGGGGACAGCG	0.542																																						ENST00000449833.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(73-75)cGg>cAg		SH3 and multiple ankyrin repeat domains 2							148.0	147.0	147.0					11																	70507799		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507799C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-16G>A	11.37:g.70507799C>T						SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000423696.2_Intron	p.R25Q	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	124	-			0					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	.	23.7	4.449863	0.84101	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.56444	2.37;2.37;0.86;0.46;0.86	4.56	4.56	0.56223	.	.	.	.	.	T	0.32941	0.0846	N	0.08118	0	0.40817	D	0.983475	P;P	0.39520	0.493;0.676	B;B	0.33846	0.089;0.171	T	0.38628	-0.9652	9	0.44086	T	0.13	.	17.342	0.87299	0.0:1.0:0.0:0.0	.	25;25	B7ZKU9;Q9UPX8-4	.;.	Q	25;24;24;25;25	ENSP00000399423:R25Q;ENSP00000386491:R24Q;ENSP00000387324:R24Q;ENSP00000394939:R25Q;ENSP00000349694:R25Q	ENSP00000349694:R25Q	R	-	2	0	SHANK2	70185447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.065000	0.64344	2.081000	0.62600	0.491000	0.48974	CGG		0.542	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	177	0	0	0	1	0	4	177				
BTN2A3P	54718	broad.mit.edu	37	6	26428451	26428451	+	RNA	DEL	A	A	-	rs139821417|rs79568516		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:26428451delA	ENST00000466808.2	+	0	1304							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											gtgtctaattaaaaaaaaaaa	0.448																																						ENST00000466808.2																			0																																																			0							g.chr6:26428451delA	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.26428451delA														0	1304	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.448	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		2	4						2	4	---	---	---	---
LINCR-0001	101929191	broad.mit.edu	37	8	10335889	10335903	+	lincRNA	DEL	GGCTGCAGTGGTTGT	GGCTGCAGTGGTTGT	-	rs149123714|rs55641852	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:10335889_10335903delGGCTGCAGTGGTTGT	ENST00000517732.1	+	0	223				RNU6-729P_ENST00000384399.1_RNA|RP11-981G7.3_ENST00000520494.1_lincRNA																							GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG	0.586														257	0.0513179	0.0643	0.0576	5008	,	,		16018	0.001		0.0984	False		,,,				2504	0.0327					ENST00000517732.1																			0																																																			0							g.chr8:10335889_10335903delGGCTGCAGTGGTTGT																													8.37:g.10335889_10335903delGGCTGCAGTGGTTGT						RP11-981G7.3_ENST00000520494.1_lincRNA								0	223	+									RNA	DEL	ENST00000517732.1	37																																																																																						0.586	RP11-981G7.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000375446.1			4	6						4	6	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			2	4						2	4	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	4						4	4	---	---	---	---
