#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTF1	4520	broad.mit.edu	37	1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:38288086G>A	ENST00000373036.4	-	9	1614	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	492	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGGGCTGCGGTGCCTGGGGG	0.572																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1474-1476)Ccg>Tcg		metal-regulatory transcription factor 1							42.0	40.0	41.0					1																	38288086		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38288086G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1474C>T	1.37:g.38288086G>A	ENSP00000362127:p.Pro492Ser						p.P492S	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	492			Pro-rich.		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1474C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712179	0.30322	.	.	ENSG00000188786	ENST00000373036	T	0.09817	2.94	6.17	5.25	0.73442	.	0.334492	0.36167	N	0.002757	T	0.09423	0.0232	L	0.38838	1.175	0.41763	D	0.989722	B	0.28713	0.22	B	0.25140	0.058	T	0.22417	-1.0217	10	0.23891	T	0.37	.	12.3594	0.55194	0.0:0.1285:0.7378:0.1337	.	492	Q14872	MTF1_HUMAN	S	492	ENSP00000362127:P492S	ENSP00000362127:P492S	P	-	1	0	MTF1	38060673	1.000000	0.71417	0.941000	0.38009	0.918000	0.54935	4.927000	0.63440	1.586000	0.49944	0.655000	0.94253	CCG		0.572	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		3	33	3	33	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:183711406A>C	ENST00000304685.4	+	2	563	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAATATGGGAAGTTTTAAAGA	0.428																																						ENST00000304685.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(112-114)gaA>gaC		ral guanine nucleotide dissociation stimulator-like 1							109.0	107.0	107.0					1																	183711406		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183711406A>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000304685.4:c.114A>C	1.37:g.183711406A>C	ENSP00000303192:p.Glu38Asp					RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			2	563	+								Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000304685.4	37	c.114A>C	CCDS1359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.57|10.57	1.387742|1.387742	0.25031|0.25031	.|.	.|.	ENSG00000143344|ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277|ENST00000543395	T;T;T|.	0.51071|.	0.89;0.89;0.72|.	5.09|5.09	-1.36|-1.36	0.09085|0.09085	.|.	1.427110|.	0.04397|.	N|.	0.363529|.	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.10776|0.10776	-1.0615|-1.0615	10|8	0.11794|0.87932	T|D	0.64|0	.|.	1.238|1.238	0.01957|0.01957	0.3868:0.3024:0.0969:0.2139|0.3868:0.3024:0.0969:0.2139	.|.	38;38|3	B7Z2W5;Q5SXQ6|F5H3C3	.;.|.	D|R	38|3	ENSP00000303192:E38D;ENSP00000356501:E38D;ENSP00000438662:E38D|.	ENSP00000303192:E38D|ENSP00000439193:S3R	E|S	+|+	3|1	2|0	RGL1|RGL1	181978029|181978029	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.072000|0.072000	0.14617|0.14617	0.015000|0.015000	0.14971|0.14971	0.528000|0.528000	0.53228|0.53228	GAA|AGT		0.428	RGL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085481.3	NM_015149		4	159	4	159	---	---	---	---
C2orf76	130355	broad.mit.edu	37	2	120078761	120078761	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	51										large_intestine(1)|lung(3)|pancreas(1)	5						GTGGTGGCAGGTTGGTCCTTA	0.264																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(151-153)aaC>aaT		chromosome 2 open reading frame 76							80.0	76.0	77.0					2																	120078761		1786	4061	5847	SO:0001819	synonymous_variant	130355							g.chr2:120078761G>A		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.153C>T	2.37:g.120078761G>A						C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N	p.N51N			Q3KRA6	CB076_HUMAN			4	674	-			51					B7ZLS8|Q4VC35	Silent	SNP	ENST00000409466.2	37	c.153C>T	CCDS42739.1																																																																																				0.264	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		12	62	12	62	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:173832057G>T	ENST00000397081.3	+	10	1032	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.A296S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	297					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACGAGGATGCCCCTTTGCC	0.522																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(886-888)Gcc>Tcc		Rap guanine nucleotide exchange factor (GEF) 4							55.0	57.0	57.0					2																	173832057		2083	4226	6309	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173832057G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.889G>T	2.37:g.173832057G>T	ENSP00000380271:p.Ala297Ser					RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S	p.A296S			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		10	1073	+			297					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.886G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040438	0.55003	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.18610	0.0;0.001;0.029;0.007;0.024	B;B;B;B;B	0.16289	0.002;0.001;0.015;0.009;0.007	T	0.13548	-1.0505	10	0.17832	T	0.49	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	124;126;153;297;297	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	296;297;297;153;126;144;144;124;77	ENSP00000264111:A296S;ENSP00000380271:A297S;ENSP00000387104:A297S;ENSP00000380276:A153S;ENSP00000440135:A126S;ENSP00000440250:A144S;ENSP00000437384:A144S;ENSP00000438011:A77S	ENSP00000264111:A296S	A	+	1	0	RAPGEF4	173540303	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.583000	0.74053	2.478000	0.83669	0.561000	0.74099	GCC		0.522	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		10	26	10	26	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:174777809C>G	ENST00000310015.6	-	6	2548	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	SP3_ENST00000418194.2_Missense_Mutation_p.R605T|SP3_ENST00000455789.2_Missense_Mutation_p.R620T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	673					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTATGTGTTCTTCTGTGCCT	0.368																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2017-2019)aGa>aCa		Sp3 transcription factor							93.0	87.0	89.0					2																	174777809		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777809C>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2018G>C	2.37:g.174777809C>G	ENSP00000310301:p.Arg673Thr					SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	p.R673T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2548	-			673					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.2018G>C	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.968560|3.968560	0.74131|0.74131	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.25414	.|1.8;1.8;1.8	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.041854	.|0.85682	.|D	.|0.000000	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.65815	.|0.992;0.995;0.983	.|D;P;D	.|0.67548	.|0.952;0.892;0.92	T|T	0.45745|0.45745	-0.9240|-0.9240	5|10	.|0.87932	.|D	.|0	.|.	15.0405|15.0405	0.71788|0.71788	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|670;673;620	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	Q|T	630|673;620;605	.|ENSP00000310301:R673T;ENSP00000388903:R620T;ENSP00000406140:R605T	.|ENSP00000310301:R673T	E|R	-|-	1|2	0|0	SP3|SP3	174486055|174486055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.368	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		4	74	4	74	---	---	---	---
DAW1	164781	broad.mit.edu	37	2	228786221	228786221	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:228786221A>C	ENST00000309931.2	+	12	1240	c.1157A>C	c.(1156-1158)cAc>cCc	p.H386P	DAW1_ENST00000545118.1_Missense_Mutation_p.H371P|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	386						cilium (GO:0005929)											CTTGAGGGGCACACTGATGAA	0.443																																						ENST00000309931.2																			0											c.(1156-1158)cAc>cCc		dynein assembly factor with WDR repeat domains 1							100.0	96.0	97.0					2																	228786221		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786221A>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1157A>C	2.37:g.228786221A>C	ENSP00000311899:p.His386Pro					DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	p.H386P	NM_178821.1	NP_849143.1					12	1240	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1157A>C	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234253	0.79688	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.81163	-1.46;-1.46	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.301827	0.35320	N	0.003289	D	0.92146	0.7510	H	0.94542	3.55	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.94188	0.7438	10	0.87932	D	0	.	14.6405	0.68720	1.0:0.0:0.0:0.0	.	386	Q8N136	WDR69_HUMAN	P	386;371	ENSP00000311899:H386P;ENSP00000437887:H371P	ENSP00000311899:H386P	H	+	2	0	WDR69	228494465	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	8.420000	0.90256	2.049000	0.60858	0.528000	0.53228	CAC		0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		7	102	7	102	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C	rs371749768		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:47455847A>C	ENST00000265565.5	-	22	3829	c.3417T>G	c.(3415-3417)gaT>gaG	p.D1139E	SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1139	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGATGGCCCCATCTTGTCCTC	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3415-3417)gaT>gaG		SREBF chaperone							60.0	52.0	55.0					3																	47455847		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455847A>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3417T>G	3.37:g.47455847A>C	ENSP00000265565:p.Asp1139Glu					SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	p.D1139E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	22	3829	-			1139			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3417T>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344543	0.82022	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;D	0.89196	-2.48;-2.48;-2.48	4.96	-2.03	0.07365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.87682	2.9	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92153	0.5730	10	0.87932	D	0	-21.2078	11.5887	0.50933	0.5091:0.0:0.4909:0.0	.	883;1139	F8W921;Q12770	.;SCAP_HUMAN	E	631;765;1139;883;746	ENSP00000265565:D1139E;ENSP00000416847:D883E;ENSP00000438956:D746E	ENSP00000265565:D1139E	D	-	3	2	SCAP	47430851	0.980000	0.34600	0.990000	0.47175	0.998000	0.95712	0.235000	0.17948	-0.425000	0.07371	0.533000	0.62120	GAT		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		6	92	6	92	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:82924057C>A	ENST00000306270.7	-	12	2640	c.2091G>T	c.(2089-2091)agG>agT	p.R697S	IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	697					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGCTCTTCTGCCTCTCACTAA	0.328																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2089-2091)agG>agT		inhibitor of Bruton agammaglobulinemia tyrosine kinase							119.0	126.0	123.0					6																	82924057		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924057C>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2091G>T	6.37:g.82924057C>A	ENSP00000305721:p.Arg697Ser					IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	p.R697S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2640	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	697					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2091G>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804269	0.31869	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.21734	1.99;1.99	5.47	-0.248	0.13015	BTB/POZ-like (1);	0.327050	0.36972	N	0.002301	T	0.06234	0.0161	L	0.56769	1.78	0.39317	D	0.96518	B;B;B	0.25351	0.124;0.009;0.005	B;B;B	0.24006	0.05;0.005;0.002	T	0.17623	-1.0363	10	0.21540	T	0.41	-0.5026	4.5277	0.11990	0.1504:0.3909:0.0:0.4587	.	697;697;697	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	S	697	ENSP00000305721:R697S;ENSP00000426405:R697S	ENSP00000305721:R697S	R	-	3	2	IBTK	82980776	0.585000	0.26774	0.993000	0.49108	0.599000	0.36880	0.529000	0.23019	0.023000	0.15187	0.655000	0.94253	AGG		0.328	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		12	73	12	73	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:129691092A>T	ENST00000421865.2	+	34	4965	c.4916A>T	c.(4915-4917)aAt>aTt	p.N1639I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1639	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGAGGGCAATCTGAATACA	0.448																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4915-4917)aAt>aTt		laminin, alpha 2							82.0	84.0	83.0					6																	129691092		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691092A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4916A>T	6.37:g.129691092A>T	ENSP00000400365:p.Asn1639Ile						p.N1639I	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4965	+			1639			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4916A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391089	0.82902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10288	2.89	5.98	4.81	0.61882	Laminin I (1);	0.202481	0.50627	D	0.000111	T	0.10252	0.0251	L	0.32530	0.975	0.45366	D	0.998355	D;D	0.56746	0.977;0.977	P;P	0.61722	0.893;0.882	T	0.07009	-1.0795	10	0.42905	T	0.14	.	11.6213	0.51119	0.93:0.0:0.07:0.0	.	1639;1639	A6NF00;P24043	.;LAMA2_HUMAN	I	1639	ENSP00000400365:N1639I	ENSP00000346769:N1639I	N	+	2	0	LAMA2	129732785	1.000000	0.71417	0.750000	0.31169	0.871000	0.50021	4.357000	0.59436	1.080000	0.41073	0.533000	0.62120	AAT		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	107	3	107	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130467207	130467207	+	Silent	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:130467207A>G	ENST00000368134.2	-	12	1751	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N	SAMD3_ENST00000457563.2_Silent_p.N405N|SAMD3_ENST00000439090.2_Silent_p.N381N|SAMD3_ENST00000437477.2_Silent_p.N381N|RP11-73O6.3_ENST00000609978.1_RNA	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	381										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCAATACAATATTGATTGGAT	0.303																																						ENST00000368134.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1141-1143)aaT>aaC		sterile alpha motif domain containing 3							106.0	106.0	106.0					6																	130467207		2202	4294	6496	SO:0001819	synonymous_variant	154075							g.chr6:130467207A>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1143T>C	6.37:g.130467207A>G						SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N|SAMD3_ENST00000439090.2_Silent_p.N381N	p.N381N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	12	1751	-			381					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.1143T>C	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	4.296	0.054091	0.08291	.	.	ENSG00000164483	ENST00000463253	.	.	.	5.64	-0.846	0.10734	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	10.954	0.47347	0.5753:0.0:0.4247:0.0	.	.	.	.	T	50	.	.	I	-	2	0	SAMD3	130508900	0.000000	0.05858	0.011000	0.14972	0.756000	0.42949	0.072000	0.14617	-0.293000	0.08986	0.528000	0.53228	ATA		0.303	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		19	60	19	60	---	---	---	---
RAMP3	10268	broad.mit.edu	37	7	45222942	45222942	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000496212.1_Silent_p.P126P|RAMP3_ENST00000481345.1_Silent_p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	126					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGTTATACCCGTCGTTCTGA	0.617																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(376-378)ccC>ccT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						131.0	124.0	126.0					7																	45222942		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222942C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.378C>T	7.37:g.45222942C>T						RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P	p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	416	+			126					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.378C>T	CCDS5503.1																																																																																				0.617	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		69	298	69	298	---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99686916T>G	ENST00000303904.3	+	2	117	c.80T>G	c.(79-81)gTc>gGc	p.V27G	COPS6_ENST00000418625.1_Splice_Site_p.V26G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	27					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTTAGTAGTCCCCAGCGTG	0.622																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(79-81)gTc>gGc		COP9 signalosome subunit 6							116.0	110.0	112.0					7																	99686916		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686916T>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.80T>G	7.37:g.99686916T>G	ENSP00000304102:p.Val27Gly					COPS6_ENST00000418625.1_Splice_Site_p.V26G	p.V27G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	117	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		27					A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.80T>G	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945855	0.18356	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.43688	0.96;0.94	5.31	5.31	0.75309	.	0.472322	0.22275	N	0.062218	T	0.23727	0.0574	N	0.08118	0	0.34578	D	0.714157	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.26121	-1.0112	10	0.22109	T	0.4	-4.2775	13.2674	0.60141	0.0:0.0:0.0:1.0	.	27;27	B4DHR8;Q7L5N1	.;CSN6_HUMAN	G	27;26	ENSP00000304102:V27G;ENSP00000400617:V26G	ENSP00000304102:V27G	V	+	2	0	COPS6	99524852	0.139000	0.22563	0.924000	0.36721	0.391000	0.30476	1.477000	0.35431	2.243000	0.73865	0.533000	0.62120	GTC		0.622	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		5	236	5	236	---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99688238	99688238	+	Silent	SNP	C	C	T	rs11550651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99688238C>T	ENST00000303904.3	+	5	484	c.447C>T	c.(445-447)ccC>ccT	p.P149P	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Silent_p.P148P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	149					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGAGCCCCCTCTTTCTGA	0.498																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(445-447)ccC>ccT		COP9 signalosome subunit 6							141.0	130.0	134.0					7																	99688238		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688238C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.447C>T	7.37:g.99688238C>T						COPS6_ENST00000418625.1_Silent_p.P148P	p.P149P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	484	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		149					A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.447C>T	CCDS5682.1																																																																																				0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		4	127	4	127	---	---	---	---
AHCYL2	23382	broad.mit.edu	37	7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	481					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGGGACATTCCAACACAGAG	0.433																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1441-1443)tCc>tAc		adenosylhomocysteinase-like 2							165.0	138.0	147.0					7																	129053510		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129053510C>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1442C>A	7.37:g.129053510C>A	ENSP00000315931:p.Ser481Tyr					AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y	p.S481Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			12	1496	+			481					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1442C>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.568144|3.568144	0.65651|0.65651	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78003	.|-1.14;-1.13;-1.11;-1.1;-1.11;-1.1	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75895|0.75895	0.3912|0.3912	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.33345	.|0.173;0.173;0.409;0.173;0.356	.|B;B;B;B;B	.|0.35312	.|0.093;0.093;0.2;0.093;0.127	T|T	0.72609|0.72609	-0.4241|-0.4241	5|10	.|0.30078	.|T	.|0.28	-14.061|-14.061	18.3985|18.3985	0.90507|0.90507	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|378;379;481;378;480	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|Y	388|481;480;400;378;379;378	.|ENSP00000315931:S481Y;ENSP00000413639:S480Y;ENSP00000431787:S400Y;ENSP00000420459:S378Y;ENSP00000405267:S379Y;ENSP00000420801:S378Y	.|ENSP00000315931:S481Y	P|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128840746|128840746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.488000|7.488000	0.81441|0.81441	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.433	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			19	109	19	109	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	94	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCACAGCGGAACTTTCAGGA	0.289																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(280-282)gAa>gTa		syntrophin, gamma 1							163.0	154.0	157.0					8																	51363119		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363119A>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.281A>T	8.37:g.51363119A>T	ENSP00000429842:p.Glu94Val					SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			7	942	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	94			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.281A>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048522	0.55110	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.32	5.32	0.75619	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.966;0.991	T	0.51903	-0.8646	10	0.87932	D	0	.	13.2281	0.59927	1.0:0.0:0.0:0.0	.	94;94	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	94	ENSP00000429276:E94V;ENSP00000429842:E94V;ENSP00000431123:E94V;ENSP00000276467:E94V	ENSP00000276467:E94V	E	+	2	0	SNTG1	51525672	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	6.060000	0.71141	2.003000	0.58678	0.528000	0.53228	GAA		0.289	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	127	4	127	---	---	---	---
CPQ	10404	broad.mit.edu	37	8	97847312	97847312	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:97847312G>A	ENST00000220763.5	+	3	755	c.545G>A	c.(544-546)aGg>aAg	p.R182K		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	182					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AACTACTCAAGGACGGTGCAA	0.517																																						ENST00000220763.5																			0											c.(544-546)aGg>aAg		carboxypeptidase Q							117.0	110.0	112.0					8																	97847312		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847312G>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.545G>A	8.37:g.97847312G>A	ENSP00000220763:p.Arg182Lys						p.R182K	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	755	+			182					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.545G>A	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192479	0.01607	.	.	ENSG00000104324	ENST00000220763;ENST00000517742	T;T	0.41400	1.0;1.05	5.63	-11.3	0.00108	.	1.689210	0.02949	N	0.141466	T	0.12178	0.0296	N	0.02379	-0.575	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.06180	-1.0841	10	0.05721	T	0.95	-5.6579	6.1151	0.20122	0.5338:0.3021:0.0728:0.0913	.	182;182	B5MDX4;Q9Y646	.;PGCP_HUMAN	K	182	ENSP00000220763:R182K;ENSP00000429146:R182K	ENSP00000220763:R182K	R	+	2	0	AC010859.1	97916488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.012000	0.12699	-3.884000	0.00095	-1.114000	0.02060	AGG		0.517	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		3	98	3	98	---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:142186811T>C	ENST00000262585.2	+	15	2695	c.2417T>C	c.(2416-2418)cTg>cCg	p.L806P	DENND3_ENST00000519811.1_Missense_Mutation_p.L886P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	806					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)			CTTTGGCACCTGATGGTGAAG	0.542																																						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.(2656-2658)cTg>cCg		DENN/MADD domain containing 3							122.0	104.0	110.0					8																	142186811		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142186811T>C	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.2417T>C	8.37:g.142186811T>C	ENSP00000262585:p.Leu806Pro					DENND3_ENST00000262585.2_Missense_Mutation_p.L806P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P	p.L886P			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2727	+	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)		806					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2657T>C	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651267	0.88056	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.17691	2.72;2.26;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42816	-0.9429	10	0.87932	D	0	-30.6367	15.3861	0.74703	0.0:0.0:0.0:1.0	.	886;806	E9PF32;A2RUS2	.;DEND3_HUMAN	P	806;754;886	ENSP00000262585:L806P;ENSP00000410594:L754P;ENSP00000428714:L886P	ENSP00000262585:L806P	L	+	2	0	DENND3	142255993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.018000	0.59344	0.528000	0.53228	CTG		0.542	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		3	127	3	127	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:143558610G>A	ENST00000517894.1	+	5	2087	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	398	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCGAGCAGCGGCTGTGCAAC	0.731																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1192-1194)cGg>cAg		brain-specific angiogenesis inhibitor 1							16.0	20.0	19.0					8																	143558610		2056	4176	6232	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558610G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1193G>A	8.37:g.143558610G>A	ENSP00000430945:p.Arg398Gln					BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q	p.R398Q			O14514	BAI1_HUMAN			5	2087	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		398			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.090074	0.94149	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	4.44	4.44	0.53790	.	0.000000	0.64402	U	0.000002	T	0.48660	0.1512	N	0.25789	0.76	0.44843	D	0.997857	D	0.71674	0.998	P	0.59948	0.866	T	0.48043	-0.9069	10	0.51188	T	0.08	.	10.1585	0.42838	0.0936:0.0:0.9064:0.0	.	398	E9PBK0	.	Q	398	ENSP00000430945:R398Q;ENSP00000313046:R398Q	ENSP00000313046:R398Q	R	+	2	0	BAI1	143555612	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.674000	0.83992	2.152000	0.67230	0.561000	0.74099	CGG		0.731	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	65	3	65	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:44228397A>T	ENST00000343631.3	+	10	1679	c.1550A>T	c.(1549-1551)aAc>aTc	p.N517I	EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000395673.3_Missense_Mutation_p.N550I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	517	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.N517S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGCTGAAAACAAGTTAAGT	0.403			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			1	Substitution - Missense(1)	p.N517S(1)	skin(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1648-1650)aAc>aTc		exostosin glycosyltransferase 2							128.0	126.0	127.0					11																	44228397		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44228397A>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1550A>T	11.37:g.44228397A>T	ENSP00000342656:p.Asn517Ile					EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I	p.N550I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			10	1705	+			517					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1649A>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250542	0.80024	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.81	5.81	0.92471	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.94666	0.7852	10	0.87932	D	0	-1.636	16.1699	0.81801	1.0:0.0:0.0:0.0	.	517;527;527;517;530	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	517;527;550;517	ENSP00000431173:N517I;ENSP00000351509:N527I;ENSP00000379032:N550I;ENSP00000342656:N517I	ENSP00000342656:N517I	N	+	2	0	EXT2	44184973	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.210000	0.95106	2.217000	0.71921	0.533000	0.62120	AAC		0.403	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		4	129	4	129	---	---	---	---
C11orf84	144097	broad.mit.edu	37	11	63581248	63581248	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:63581248G>A	ENST00000294244.4	+	1	389	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	30										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGCCATGGTGGTGGCCGTAA	0.687																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(88-90)gtG>gtA		chromosome 11 open reading frame 84							35.0	33.0	34.0					11																	63581248		2201	4297	6498	SO:0001819	synonymous_variant	144097							g.chr11:63581248G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.90G>A	11.37:g.63581248G>A							p.V30V	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			1	389	+			30					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.90G>A	CCDS31594.1																																																																																				0.687	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		3	49	3	49	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	rs141245340		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:118498834G>T	ENST00000361417.2	+	7	1706	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	432										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTTCAGATGGGTTAGCCACC	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1294-1296)gGg>gTg		pleckstrin homology-like domain, family B, member 1							69.0	77.0	74.0					11																	118498834		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498834G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1295G>T	11.37:g.118498834G>T	ENSP00000354498:p.Gly432Val					PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1706	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	432					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1295G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256015	0.22965	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.30182	1.54;1.56	4.79	4.79	0.61399	.	0.519199	0.19915	N	0.103201	T	0.31263	0.0791	L	0.47716	1.5	0.80722	D	1	P;P;B	0.46512	0.763;0.879;0.18	B;B;B	0.42827	0.229;0.399;0.048	T	0.10177	-1.0641	10	0.62326	D	0.03	-39.2094	13.5965	0.61994	0.0:0.1547:0.8453:0.0	.	432;432;432	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	V	432;191;432	ENSP00000354498:G432V;ENSP00000348359:G432V	ENSP00000348359:G432V	G	+	2	0	PHLDB1	118004044	0.057000	0.20700	0.995000	0.50966	0.981000	0.71138	0.236000	0.17967	2.507000	0.84556	0.462000	0.41574	GGG		0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		5	171	5	171	---	---	---	---
ANKRD33	341405	broad.mit.edu	37	12	52284995	52284995	+	Silent	SNP	G	G	A	rs199612364		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:52284995G>A	ENST00000340970.4	+	6	1061	c.690G>A	c.(688-690)agG>agA	p.R230R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000301190.6_Missense_Mutation_p.G422E			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGTCCTTCAGGACACCAAAGT	0.597																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1264-1266)gGa>gAa		ankyrin repeat domain 33							60.0	53.0	56.0					12																	52284995		2203	4300	6503	SO:0001819	synonymous_variant	341405							g.chr12:52284995G>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.690G>A	12.37:g.52284995G>A						ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Silent_p.R230R	p.G422E	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1492	+			0					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.1265G>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318451	0.10845	.	.	ENSG00000167612	ENST00000301190	T	0.22743	1.94	4.58	3.65	0.41850	.	0.237014	0.21943	N	0.066853	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.31280	-0.9949	9	0.14656	T	0.56	-0.9645	7.9973	0.30275	0.1184:0.0:0.8816:0.0	.	422	Q7Z3H0-2	.	E	422	ENSP00000301190:G422E	ENSP00000301190:G422E	G	+	2	0	ANKRD33	50571262	0.261000	0.24063	0.005000	0.12908	0.013000	0.08279	1.953000	0.40352	1.211000	0.43351	0.561000	0.74099	GGA		0.597	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		3	64	3	64	---	---	---	---
RAB35	11021	broad.mit.edu	37	12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C	rs202018032	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:120536625T>C	ENST00000229340.5	-	5	655	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000534951.1_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	156					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCTTCCACGTTGACATTCTC	0.597													T|||	2	0.000399361	0.0	0.0	5008	,	,		18688	0.001		0.001	False		,,,				2504	0.0					ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(466-468)aAc>aGc		RAB35, member RAS oncogene family		T	,SER/ASN	0,4168		0,0,2084	95.0	97.0	96.0		,467	4.0	1.0	12		96	1,8429		0,1,4214	no	intron,missense	RAB35	NM_001167606.1,NM_006861.6	,46	0,1,6298	CC,CT,TT		0.0119,0.0,0.0079	,benign	,156/202	120536625	1,12597	2084	4215	6299	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120536625T>C	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.467A>G	12.37:g.120536625T>C	ENSP00000229340:p.Asn156Ser					RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR	p.N156S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	5	655	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		156					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.467A>G	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170496	0.57584	0.0	1.19E-4	ENSG00000111737	ENST00000229340;ENST00000538903	D;D	0.82255	-1.59;-1.59	5.16	4.02	0.46733	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	M	0.84683	2.71	0.80722	D	1	B	0.31274	0.317	B	0.30646	0.118	D	0.84778	0.0771	10	0.87932	D	0	.	10.2959	0.43625	0.0:0.0777:0.0:0.9223	.	156	Q15286	RAB35_HUMAN	S	156;140	ENSP00000229340:N156S;ENSP00000443994:N140S	ENSP00000229340:N156S	N	-	2	0	RAB35	119021008	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.021000	0.70832	1.925000	0.55765	0.459000	0.35465	AAC		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			3	59	3	59	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:39263499G>C	ENST00000280481.7	+	1	2234	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	673					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCACATTTAGAGTCCAGGAT	0.562																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2017-2019)aGa>aCa		FRAS1 related extracellular matrix protein 2							82.0	81.0	82.0					13																	39263499		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263499G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2018G>C	13.37:g.39263499G>C	ENSP00000280481:p.Arg673Thr						p.R673T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2234	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	673					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2018G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	8.537	0.872431	0.17322	.	.	ENSG00000150893	ENST00000280481	T	0.39056	1.1	5.97	5.08	0.68730	.	0.256786	0.43919	D	0.000509	T	0.36635	0.0974	L	0.56769	1.78	0.20821	N	0.999848	B	0.16396	0.017	B	0.13407	0.009	T	0.12682	-1.0538	10	0.19147	T	0.46	.	10.9667	0.47416	0.0695:0.1313:0.7991:0.0	.	673	Q5SZK8	FREM2_HUMAN	T	673	ENSP00000280481:R673T	ENSP00000280481:R673T	R	+	2	0	FREM2	38161499	0.241000	0.23857	0.959000	0.39883	0.994000	0.84299	2.892000	0.48625	2.837000	0.97791	0.655000	0.94253	AGA		0.562	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	143	5	143	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91422745	91422745	+	Silent	SNP	C	C	T	rs201433527		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:91422745C>T	ENST00000268171.3	+	10	1404	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	375	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTTAGCAGCCGGCATCATTG	0.617																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1123-1125)gcC>gcT		furin (paired basic amino acid cleaving enzyme)							52.0	52.0	52.0					15																	91422745		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91422745C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1125C>T	15.37:g.91422745C>T							p.A375A	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		10	1404	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		375					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1125C>T	CCDS10364.1																																																																																				0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		17	120	17	120	---	---	---	---
CCL4L2	388372	broad.mit.edu	37	17	34641448	34641448	+	Splice_Site	SNP	A	A	G	rs184899362		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Splice_Site			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522																																						ENST00000394465.2																			1	Unknown(1)	p.?(1)	endometrium(1)	endometrium(1)	1						c.e3-1		chemokine (C-C motif) ligand 4-like 2							219.0	152.0	175.0					17																	34641448		2159	4154	6313	SO:0001630	splice_region_variant	388372				chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	g.chr17:34641448A>G			17q12	2005-08-09			ENSG00000197262			"""Chemokine ligands"""	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-1A>G	17.37:g.34641448A>G						TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron				Q8NHW4	CC4L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	508	+		Breast(25;0.102)|Ovarian(249;0.17)						B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Splice_Site	SNP	ENST00000394465.2	37		CCDS11311.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	N	11.83	1.756201	0.31137	.	.	ENSG00000197262	ENST00000394465;ENST00000339270	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8193	0.29278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCL4L2	31665561	1.000000	0.71417	0.994000	0.49952	0.682000	0.39822	4.719000	0.61937	1.074000	0.40909	0.344000	0.21773	.		0.522	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007	Intron	3	137	3	137	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38447897A>G	ENST00000209728.4	+	4	1108	c.637A>G	c.(637-639)Agc>Ggc	p.S213G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCTGCTTAAGCCGGATTCT	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(637-639)Agc>Ggc		cell division cycle 6							101.0	109.0	106.0					17																	38447897		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447897A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.637A>G	17.37:g.38447897A>G	ENSP00000209728:p.Ser213Gly						p.S213G	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			4	1108	+			213					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.637A>G	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430069	0.62844	.	.	ENSG00000094804	ENST00000209728	T	0.56444	0.46	6.16	5.09	0.68999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.164077	0.64402	N	0.000003	T	0.46014	0.1371	L	0.32530	0.975	0.38326	D	0.943656	B	0.29270	0.24	B	0.37550	0.253	T	0.45877	-0.9231	10	0.33940	T	0.23	-14.5241	11.5807	0.50889	0.9297:0.0:0.0703:0.0	.	213	Q99741	CDC6_HUMAN	G	213	ENSP00000209728:S213G	ENSP00000209728:S213G	S	+	1	0	CDC6	35701423	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.661000	0.83786	1.144000	0.42321	-0.297000	0.09499	AGC		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			9	102	9	102	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:17068665G>C	ENST00000443236.1	-	19	2446	c.2415C>G	c.(2413-2415)atC>atG	p.I805M	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	758						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAATGTACCTGATGTTGAGAC	0.438																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2413-2415)atC>atG		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							240.0	226.0	231.0					19																	17068665		1962	4153	6115	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17068665G>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2415C>G	19.37:g.17068665G>C	ENSP00000402505:p.Ile805Met					CPAMD8_ENST00000388925.4_3'UTR	p.I805M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			19	2446	-			758					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2415C>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.269164|3.269164	0.59540|0.59540	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.34|3.34	3.34|3.34	0.38264|0.38264	Alpha-2-macroglobulin (1);|.	0.320745|.	0.23830|.	U|.	0.044152|.	T|.	0.54143|.	0.1840|.	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.62298|.	0.9|.	T|.	0.49542|.	-0.8929|.	9|.	0.72032|.	D|.	0.01|.	.|.	10.1596|10.1596	0.42844|0.42844	0.0:0.0:0.8004:0.1996|0.0:0.0:0.8004:0.1996	.|.	758|.	Q8IZJ3|.	CPMD8_HUMAN|.	M|X	805|816	.|.	ENSP00000291440:I805M|.	I|S	-|-	3|2	3|0	CPAMD8|CPAMD8	16929665|16929665	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.748000|0.748000	0.42578|0.42578	5.550000|5.550000	0.67268|0.67268	1.440000|1.440000	0.47531|0.47531	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.438	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	345	5	345	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G|ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	785					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATTGCCTCCGTCCCCTGCGAG	0.517																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2353-2355)gAc>gGc		ATPase, class II, type 9A							101.0	65.0	77.0					20																	50234090		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50234090T>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2354A>G	20.37:g.50234090T>C	ENSP00000342481:p.Asp785Gly					ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	p.D785G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			22	2618	-			785					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2354A>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271140	0.80469	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.97831	-4.56;-4.56;-4.56	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.981;1.0	D	0.98175	1.0454	10	0.87932	D	0	-33.5399	14.9532	0.71091	0.0:0.0:0.0:1.0	.	664;785	O75110-2;O75110	.;ATP9A_HUMAN	G	649;785;664	ENSP00000309086:D649G;ENSP00000342481:D785G;ENSP00000385875:D664G	ENSP00000309086:D649G	D	-	2	0	ATP9A	49667497	1.000000	0.71417	0.614000	0.29051	0.619000	0.37552	7.584000	0.82572	1.923000	0.55706	0.418000	0.28097	GAC		0.517	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	27	3	27	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H	NM_001282387.1	NP_001269316.1	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			23	93	23	93	---	---	---	---
