#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POTEH	23784	broad.mit.edu	37	22	16287731	16287731	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr22:16287731G>A	ENST00000343518.6	-	1	206	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	52										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.612																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(154-156)tCt>tTt		POTE ankyrin domain family, member H							98.0	114.0	109.0					22																	16287731		1720	3276	4996	SO:0001583	missense	23784							g.chr22:16287731G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.155C>T	22.37:g.16287731G>A	ENSP00000340610:p.Ser52Phe						p.S52F	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	206	-			52					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.155C>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	8.795	0.931580	0.18131	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.42131	0.98	.	.	.	.	.	.	.	.	T	0.45458	0.1343	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.31668	-0.9935	7	0.87932	D	0	.	.	.	.	.	52	Q6S545	POTEH_HUMAN	F	52	ENSP00000340610:S52F	ENSP00000340610:S52F	S	-	2	0	POTEH	14667731	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.224000	0.17738	0.073000	0.16731	0.074000	0.15403	TCT		0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		66	847	0	0	0	1	0	66	847				
SLCO2A1	6578	broad.mit.edu	37	3	133667435	133667435	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:133667435G>A	ENST00000310926.4	-	8	1323	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SLCO2A1_ENST00000493729.1_Silent_p.N274N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	350					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CCAGGAACTTGTTGAGGAAGG	0.587																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1048-1050)aaC>aaT		solute carrier organic anion transporter family, member 2A1							155.0	147.0	150.0					3																	133667435		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667435G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1050C>T	3.37:g.133667435G>A						SLCO2A1_ENST00000493729.1_Silent_p.N274N	p.N350N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			8	1323	-			350					Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1050C>T	CCDS3084.1																																																																																				0.587	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		6	225	0	0	0	1	0	6	225				
IGDCC4	57722	broad.mit.edu	37	15	65684514	65684514	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr15:65684514G>A	ENST00000352385.2	-	11	2289	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	694	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCTTGAGCCGGACAGGCCCC	0.627																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2080-2082)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 4							33.0	40.0	37.0					15																	65684514		2197	4295	6492	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684514G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2080C>T	15.37:g.65684514G>A	ENSP00000319623:p.Arg694Trp						p.R694W	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			11	2289	-			694			Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2080C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171832	0.21704	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.49	0.753	0.18404	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117171	0.53938	D	0.000052	T	0.40473	0.1118	L	0.41492	1.28	0.36220	D	0.851904	B	0.21688	0.059	B	0.23018	0.043	T	0.42481	-0.9449	10	0.66056	D	0.02	-26.9183	9.1995	0.37249	0.0777:0.0:0.4054:0.5169	.	694	Q8TDY8	IGDC4_HUMAN	W	694;423	ENSP00000319623:R694W	ENSP00000319623:R694W	R	-	1	2	IGDCC4	63471567	0.885000	0.30320	0.466000	0.27168	0.375000	0.29983	0.392000	0.20801	0.243000	0.21327	-0.137000	0.14449	CGG		0.627	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	121	0	0	0	1	0	3	121				
PPARGC1A	10891	broad.mit.edu	37	4	23833344	23833344	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833344G>T	ENST00000264867.2	-	3	384	c.265C>A	c.(265-267)Cta>Ata	p.L89I	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	89					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGACTGCTAGCAAGTTTGCC	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(265-267)Cta>Ata		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							310.0	257.0	275.0					4																	23833344		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833344G>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.265C>A	4.37:g.23833344G>T	ENSP00000264867:p.Leu89Ile					PPARGC1A_ENST00000509702.1_5'UTR	p.L89I	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	384	-		Breast(46;0.0503)	89					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.265C>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507947	0.96386	.	.	ENSG00000109819	ENST00000264867	T	0.61040	0.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.81750	-0.0790	10	0.87932	D	0	-4.482	20.5568	0.99304	0.0:0.0:1.0:0.0	.	89	Q9UBK2	PRGC1_HUMAN	I	89	ENSP00000264867:L89I	ENSP00000264867:L89I	L	-	1	2	PPARGC1A	23442442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	CTA		0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		14	343	1	0	1.3612e-06	1	1.42308e-06	14	343				
CRTC1	23373	broad.mit.edu	37	19	18870826	18870826	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:18870826C>T	ENST00000321949.8	+	8	700	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L|CRTC1_ENST00000338797.6_Missense_Mutation_p.P241L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCATCTTCCCGTCTGCCGAC	0.672																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(721-723)cCg>cTg		CREB regulated transcription coactivator 1							85.0	98.0	94.0					19																	18870826		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870826C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.674C>T	19.37:g.18870826C>T	ENSP00000323332:p.Pro225Leu					CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P225L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L	p.P241L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	747	+			225						Missense_Mutation	SNP	ENST00000321949.8	37	c.722C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.373299	0.61624	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.71817	-0.6;-0.6	4.29	4.29	0.51040	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.992;0.994	D	0.88879	0.3338	10	0.87932	D	0	-11.6869	15.7628	0.78101	0.0:1.0:0.0:0.0	.	225;241;225	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	225;241;225	ENSP00000345001:P241L;ENSP00000323332:P225L	ENSP00000262813:P225L	P	+	2	0	CRTC1	18731826	1.000000	0.71417	0.925000	0.36789	0.071000	0.16799	5.760000	0.68793	1.961000	0.56991	0.457000	0.33378	CCG		0.672	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		5	291	0	0	0	1	0	5	291				
VIPR2	7434	broad.mit.edu	37	7	158935229	158935229	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:158935229G>A	ENST00000262178.2	-	2	245	c.60C>T	c.(58-60)agC>agT	p.S20S	VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	20					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGGTGAATGCTGTTCACCT	0.373																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(58-60)agC>agT		vasoactive intestinal peptide receptor 2							146.0	140.0	142.0					7																	158935229		2203	4298	6501	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158935229G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.60C>T	7.37:g.158935229G>A						VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S	p.S20S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	2	245	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	20					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.60C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376034	0.42105	.	.	ENSG00000106018	ENST00000418475	.	.	.	5.09	2.17	0.27698	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	.	6.4047	0.21658	0.3215:0.0:0.6785:0.0	.	.	.	.	V	15	.	.	A	-	2	0	VIPR2	158627990	0.979000	0.34478	0.795000	0.32087	0.969000	0.65631	0.229000	0.17833	0.608000	0.30000	0.591000	0.81541	GCA		0.373	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		8	123	0	0	0	1	0	8	123				
NBPF18P	441908	broad.mit.edu	37	1	151991151	151991151	+	RNA	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:151991151C>T	ENST00000432386.1	+	0	2215					NR_103561.1				neuroblastoma breakpoint family, member 18, pseudogene																		GTGGTGTCTGCCAGCCCTTCA	0.488																																						ENST00000432386.1																			0																																																			0							g.chr1:151991151C>T			1q21.3	2013-01-17	2011-04-15			ENSG00000229021		"""neuroblastoma breakpoint family"""	31998	pseudogene	pseudogene						16079250	Standard	NR_103561		Approved						1.37:g.151991151C>T								NR_103561.1						0	2215	+									RNA	SNP	ENST00000432386.1	37																																																																																						0.488	NBPF18P-001	KNOWN	basic	antisense	antisense	OTTHUMT00000036629.1			3	70	0	0	0	1	0	3	70				
PPARGC1A	10891	broad.mit.edu	37	4	23833345	23833345	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833345C>G	ENST00000264867.2	-	3	383	c.264G>C	c.(262-264)ttG>ttC	p.L88F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	88					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGACTGCTAGCAAGTTTGCCT	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(262-264)ttG>ttC		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							305.0	253.0	270.0					4																	23833345		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23833345C>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.264G>C	4.37:g.23833345C>G	ENSP00000264867:p.Leu88Phe					PPARGC1A_ENST00000509702.1_5'UTR	p.L88F	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			3	383	-		Breast(46;0.0503)	88					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.264G>C	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053241	0.93793	.	.	ENSG00000109819	ENST00000264867	T	0.61158	0.13	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79262	-0.1876	10	0.87932	D	0	-4.4311	20.5568	0.99304	0.0:1.0:0.0:0.0	.	88	Q9UBK2	PRGC1_HUMAN	F	88	ENSP00000264867:L88F	ENSP00000264867:L88F	L	-	3	2	PPARGC1A	23442443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.763000	0.68818	2.861000	0.98227	0.655000	0.94253	TTG		0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		14	337	0	0	0	1	0	14	337				
OPA1	4976	broad.mit.edu	37	3	193375008	193375008	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:193375008C>T	ENST00000392438.3	+	21	2387	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	OPA1_ENST00000361908.3_Missense_Mutation_p.A755V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361510.2_Missense_Mutation_p.A773V|OPA1_ENST00000361715.2_Missense_Mutation_p.A737V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	718					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGACTTTGCGGAGGACAGC	0.353																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2317-2319)gCg>gTg		optic atrophy 1 (autosomal dominant)							111.0	115.0	113.0					3																	193375008		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193375008C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2153C>T	3.37:g.193375008C>T	ENSP00000376233:p.Ala718Val					OPA1_ENST00000392438.3_Missense_Mutation_p.A718V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361908.3_Missense_Mutation_p.A755V|OPA1_ENST00000361715.2_Missense_Mutation_p.A737V	p.A773V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2552	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		718					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2318C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040126	0.75732	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95821	-3.42;-3.39;-3.37;-3.4;-3.42;-3.82	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.991;0.992;0.991;0.991;0.997;0.991;0.996;0.995	P;P;P;P;P;P;P;P	0.57679	0.691;0.565;0.691;0.691;0.825;0.791;0.709;0.791	D	0.96175	0.9126	10	0.45353	T	0.12	-15.8721	18.8485	0.92217	0.0:1.0:0.0:0.0	.	682;718;700;719;736;755;737;773	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	755;718;773;737;736;719	ENSP00000354681:A755V;ENSP00000376233:A718V;ENSP00000355324:A773V;ENSP00000355311:A737V;ENSP00000354429:A736V;ENSP00000354781:A719V	ENSP00000354781:A719V	A	+	2	0	OPA1	194857702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.728000	0.84847	2.681000	0.91329	0.655000	0.94253	GCG		0.353	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	124	0	0	0	1	0	3	124				
HTT	3064	broad.mit.edu	37	4	3230369	3230369	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:3230369A>G	ENST00000355072.5	+	58	8021	c.7876A>G	c.(7876-7878)Aac>Gac	p.N2626D		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2626					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCTGGGGAACAGCATCAC	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7876-7878)Aac>Gac		huntingtin							53.0	60.0	57.0					4																	3230369		2085	4191	6276	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3230369A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7876A>G	4.37:g.3230369A>G	ENSP00000347184:p.Asn2626Asp						p.N2626D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	58	8021	+		all_epithelial(65;0.18)	2626					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7876A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032101	0.75504	.	.	ENSG00000197386	ENST00000355072	T	0.67698	-0.28	5.02	5.02	0.67125	.	0.049336	0.85682	D	0.000000	T	0.61123	0.2322	L	0.56769	1.78	0.58432	D	0.999992	P	0.37688	0.605	B	0.30495	0.116	T	0.67273	-0.5712	10	0.62326	D	0.03	.	15.0373	0.71757	1.0:0.0:0.0:0.0	.	2626	P42858	HD_HUMAN	D	2626	ENSP00000347184:N2626D	ENSP00000347184:N2626D	N	+	1	0	HTT	3200167	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.655000	0.91098	2.031000	0.59945	0.460000	0.39030	AAC		0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	60	0	0	0	1	0	3	60				
DUS2	54920	broad.mit.edu	37	16	68100529	68100529	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:68100529G>A	ENST00000565263.1	+	10	1038	c.544G>A	c.(544-546)Gtt>Att	p.V182I	DUS2_ENST00000358896.6_Missense_Mutation_p.V182I|DUS2_ENST00000432752.1_Missense_Mutation_p.V147I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	182					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCCATCGCAGTTCATGGGAG	0.522																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(544-546)Gtt>Att									191.0	179.0	183.0					16																	68100529		2198	4300	6498	SO:0001583	missense	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68100529G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.544G>A	16.37:g.68100529G>A	ENSP00000455229:p.Val182Ile					DUS2L_ENST00000358896.6_Missense_Mutation_p.V182I|DUS2L_ENST00000432752.1_Missense_Mutation_p.V147I	p.V182I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	10	1038	+		Ovarian(137;0.192)	182					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.544G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592172	0.66219	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.34859	1.34;1.34	6.03	5.07	0.68467	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.37850	1.14	0.58432	D	0.999999	D;P	0.64830	0.994;0.715	P;P	0.61477	0.889;0.601	T	0.05767	-1.0865	10	0.30078	T	0.28	-25.3739	12.708	0.57073	0.076:0.0:0.924:0.0	.	147;182	E7EUN9;Q9NX74	.;DUS2L_HUMAN	I	182;147	ENSP00000351769:V182I;ENSP00000409498:V147I	ENSP00000351769:V182I	V	+	1	0	DUS2L	66658030	1.000000	0.71417	0.977000	0.42913	0.932000	0.56968	6.606000	0.74159	2.868000	0.98415	0.555000	0.69702	GTT		0.522	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		8	272	0	0	0	1	0	8	272				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	77	0	0	0	1	0	4	77				
MUC5B	727897	broad.mit.edu	37	11	1269764	1269764	+	Missense_Mutation	SNP	G	G	A	rs201915227	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:1269764G>A	ENST00000529681.1	+	31	11712	c.11654G>A	c.(11653-11655)cGc>cAc	p.R3885H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R3888H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3885	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCCTCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11662-11664)cGc>cAc		mucin 5B, oligomeric mucus/gel-forming							129.0	158.0	148.0					11																	1269764		2118	4215	6333	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269764G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11654G>A	11.37:g.1269764G>A	ENSP00000436812:p.Arg3885His					MUC5B_ENST00000529681.1_Missense_Mutation_p.R3885H|RP11-532E4.2_ENST00000532061.2_RNA	p.R3888H			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11721	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3885			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11663G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401065	0.04865	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.28255	1.62;1.8	2.76	-5.53	0.02552	.	.	.	.	.	T	0.19805	0.0476	L	0.42245	1.32	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.001;0.002	T	0.15037	-1.0451	9	0.87932	D	0	.	2.7912	0.05388	0.1806:0.2765:0.3941:0.1488	.	4413;3888	A7Y9J9;E9PBJ0	.;.	H	3885;3888;3829;3790	ENSP00000436812:R3885H;ENSP00000415793:R3888H	ENSP00000343037:R3829H	R	+	2	0	MUC5B	1226340	0.150000	0.22732	0.000000	0.03702	0.003000	0.03518	0.881000	0.28173	-3.545000	0.00143	-1.188000	0.01700	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	198	0	0	0	1	0	4	198				
XRCC5	7520	broad.mit.edu	37	2	216990723	216990723	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:216990723A>G	ENST00000392133.3	+	9	1228	c.767A>G	c.(766-768)aAt>aGt	p.N256S	XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	256	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATTGGCTCCAATTTGTCTATA	0.388								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(766-768)aAt>aGt	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							96.0	95.0	95.0					2																	216990723		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216990723A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.767A>G	2.37:g.216990723A>G	ENSP00000375978:p.Asn256Ser					XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S	p.N256S			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	9	1228	+		Renal(323;0.0328)	256			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.767A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	9.138	1.013169	0.19277	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.28454	1.61;1.61	5.35	2.97	0.34412	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (1);	0.268409	0.44688	N	0.000440	T	0.14960	0.0361	N	0.17082	0.46	0.30668	N	0.753645	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.10377	T	0.69	.	7.8433	0.29410	0.7726:0.0:0.2274:0.0	.	256	P13010	XRCC5_HUMAN	S	256	ENSP00000375978:N256S;ENSP00000375977:N256S	ENSP00000375977:N256S	N	+	2	0	XRCC5	216698968	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.897000	0.39799	0.565000	0.29255	0.533000	0.62120	AAT		0.388	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	111	0	0	0	1	0	4	111				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		88	140	0	0	0	1	0	88	140				
PRMT1	3276	broad.mit.edu	37	19	50180555	50180555	+	Silent	SNP	C	C	G	rs576649607	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:50180555C>G	ENST00000391851.4	+	1	147	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	0					cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CAGCCGAGGCCGCGAACTGCA	0.667													c|||	2	0.000399361	0.0015	0.0	5008	,	,		11476	0.0		0.0	False		,,,				2504	0.0					ENST00000391851.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(16-18)gcC>gcG		protein arginine methyltransferase 1							31.0	45.0	40.0					19																	50180555		1985	4182	6167	SO:0001819	synonymous_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50180555C>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.18C>G	19.37:g.50180555C>G						PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A	p.A6A	NM_198318.4	NP_938074.2	Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	1	147	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	5					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	c.18C>G	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440678	0.25900	.	.	ENSG00000126457	ENST00000524771	.	.	.	4.97	3.94	0.45596	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56631	-0.7947	4	.	.	.	1.9712	9.1163	0.36760	0.0:0.9013:0.0:0.0987	.	.	.	.	R	2	.	.	P	+	2	0	PRMT1	54872367	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.689000	0.25437	1.323000	0.45263	-0.136000	0.14681	CCG		0.667	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		23	37	0	0	0	1	0	23	37				
DGKE	8526	broad.mit.edu	37	17	54926136	54926136	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:54926136G>A	ENST00000284061.3	+	6	1148	c.968G>A	c.(967-969)gGt>gAt	p.G323D		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	323	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGTTGGGGTACAGGTTAT	0.413																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(967-969)gGt>gAt		diacylglycerol kinase, epsilon 64kDa							137.0	132.0	134.0					17																	54926136		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54926136G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.968G>A	17.37:g.54926136G>A	ENSP00000284061:p.Gly323Asp						p.G323D	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			6	1148	+	Breast(9;3.59e-07)		323			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.968G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152005	0.94645	.	.	ENSG00000153933	ENST00000284061	T	0.44881	0.91	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75019	-0.3465	10	0.87932	D	0	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	323;323	A1L4Q0;P52429	.;DGKE_HUMAN	D	323	ENSP00000284061:G323D	ENSP00000284061:G323D	G	+	2	0	DGKE	52281135	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.019000	0.93662	2.642000	0.89623	0.563000	0.77884	GGT		0.413	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		3	137	0	0	0	1	0	3	137				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		3	151	0	0	0	1	0	3	151				
GALNT8	26290	broad.mit.edu	37	12	4873152	4873152	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:4873152A>T	ENST00000252318.2	+	9	1869	c.1532A>T	c.(1531-1533)gAt>gTt	p.D511V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	511	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTGCTTGGATCAGGGACCC	0.502																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1531-1533)gAt>gTt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							189.0	169.0	176.0					12																	4873152		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4873152A>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1532A>T	12.37:g.4873152A>T	ENSP00000252318:p.Asp511Val						p.D511V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			9	1869	+			511			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1532A>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.23|19.23	3.787537|3.787537	0.70337|0.70337	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.37752|.	1.18|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.77606|0.77606	-0.2525|-0.2525	10|5	0.87932|.	D|.	0|.	.|.	11.6872|11.6872	0.51494|0.51494	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	511|.	Q9NY28|.	GALT8_HUMAN|.	V|F	511|28;7	ENSP00000252318:D511V|.	ENSP00000252318:D511V|.	D|I	+|+	2|1	0|0	GALNT8|GALNT8	4743413|4743413	1.000000|1.000000	0.71417|0.71417	0.561000|0.561000	0.28357|0.28357	0.103000|0.103000	0.19146|0.19146	6.744000|6.744000	0.74854|0.74854	1.858000|1.858000	0.53909|0.53909	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.502	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		9	109	0	0	0	1	0	9	109				
DACH1	1602	broad.mit.edu	37	13	72147128	72147128	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:72147128A>C	ENST00000359684.2	-	5	1304	c.1305T>G	c.(1303-1305)ttT>ttG	p.F435L	DACH1_ENST00000305425.4_Missense_Mutation_p.F383L|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	435					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCATCATCATAAAAGGAAGTT	0.398																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1147-1149)ttT>ttG		dachshund homolog 1 (Drosophila)							74.0	75.0	75.0					13																	72147128		1989	4198	6187	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147128A>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1305T>G	13.37:g.72147128A>C	ENSP00000352712:p.Phe435Leu					DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.F435L|DACH1_ENST00000313174.7_Intron	p.F383L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1571	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	433			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1149T>G		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224315	0.79576	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.54866	0.81;0.55	5.6	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.68610	-0.5363	10	0.72032	D	0.01	-12.2752	9.8001	0.40759	0.8581:0.0:0.1419:0.0	.	381	Q9UI36-2	.	L	383;435;435	ENSP00000304994:F383L;ENSP00000352712:F435L	ENSP00000304994:F383L	F	-	3	2	DACH1	71045129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	0.494000	0.27859	0.482000	0.46254	TTT		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		35	31	0	0	0	1	0	35	31				
ANKRD13D	338692	broad.mit.edu	37	11	67069034	67069034	+	Missense_Mutation	SNP	G	G	A	rs141392969		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:67069034G>A	ENST00000447274.2	+	13	2338	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	388						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCATGGAGCGCAACGAGCCC	0.662																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1162-1164)cGc>cAc		ankyrin repeat domain 13 family, member D		G	HIS/ARG	0,4400		0,0,2200	55.0	55.0	55.0		1424	3.7	1.0	11	dbSNP_134	55	1,8589	1.2+/-3.3	0,1,4294	no	missense	ANKRD13D	NM_207354.2	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/606	67069034	1,12989	2200	4295	6495	SO:0001583	missense	338692							g.chr11:67069034G>A	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1163G>A	11.37:g.67069034G>A	ENSP00000402616:p.Arg388His					ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H	p.R388H			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	2338	+			388					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.1163G>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688343	0.48097	0.0	1.16E-4	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.49139	1.42;1.6;1.42;1.42;0.79	4.71	3.71	0.42584	.	0.379294	0.27591	N	0.018681	T	0.46249	0.1383	L	0.55743	1.74	0.53688	D	0.999976	B;D;P	0.55800	0.14;0.973;0.915	B;P;B	0.47118	0.017;0.538;0.259	T	0.48007	-0.9072	10	0.56958	D	0.05	-28.8024	9.5358	0.39222	0.1768:0.0:0.8232:0.0	.	125;475;388	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	H	388;475;388;388;125	ENSP00000402616:R388H;ENSP00000427130:R475H;ENSP00000310874:R388H;ENSP00000444404:R388H;ENSP00000443977:R125H	ENSP00000310874:R388H	R	+	2	0	ANKRD13D	66825610	0.997000	0.39634	1.000000	0.80357	0.568000	0.35870	2.805000	0.47939	2.440000	0.82611	0.561000	0.74099	CGC		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		3	131	0	0	0	1	0	3	131				
GIGYF1	64599	broad.mit.edu	37	7	100284337	100284337	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:100284337T>C	ENST00000275732.5	-	7	1838	c.629A>G	c.(628-630)gAg>gGg	p.E210G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAGCTGCcctcctcctcctc	0.701																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-630)gAg>gGg		GRB10 interacting GYF protein 1							27.0	30.0	29.0					7																	100284337		2202	4297	6499	SO:0001583	missense	64599							g.chr7:100284337T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629A>G	7.37:g.100284337T>C	ENSP00000275732:p.Glu210Gly					GIGYF1_ENST00000471340.2_Intron	p.E210G	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.629A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860831	0.51482	.	.	ENSG00000146830	ENST00000275732	D	0.84146	-1.81	4.59	4.59	0.56863	.	0.125321	0.51477	D	0.000085	T	0.72211	0.3432	N	0.20685	0.6	0.31402	N	0.676515	B	0.06786	0.001	B	0.06405	0.002	T	0.66232	-0.5975	10	0.17832	T	0.49	-25.9062	10.274	0.43499	0.0:0.0:0.0:1.0	.	210	O75420	PERQ1_HUMAN	G	210	ENSP00000275732:E210G	ENSP00000275732:E210G	E	-	2	0	GIGYF1	100122273	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	2.825000	0.48096	1.922000	0.55676	0.460000	0.39030	GAG		0.701	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		3	63	0	0	0	1	0	3	63				
PUM2	23369	broad.mit.edu	37	2	20478389	20478389	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:20478389G>A	ENST00000361078.2	-	12	1934	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	PUM2_ENST00000403432.1_Missense_Mutation_p.P638S|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	638	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGCGGTGGCGTAAGT	0.413																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1912-1914)Ccg>Tcg		pumilio RNA-binding family member 2							139.0	135.0	136.0					2																	20478389		2203	4299	6502	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20478389G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1912C>T	2.37:g.20478389G>A	ENSP00000354370:p.Pro638Ser					PUM2_ENST00000319801.5_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000403432.1_Missense_Mutation_p.P638S|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S	p.P638S			Q8TB72	PUM2_HUMAN			12	1934	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	19.38	3.816416	0.70912	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.20463	2.09;2.37;2.09;2.07	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.65975	2.015	0.80722	D	1	D;P;D	0.89917	1.0;0.815;1.0	D;P;D	0.91635	0.999;0.674;0.994	T	0.42616	-0.9441	10	0.46703	T	0.11	-5.6998	16.8867	0.86078	0.0:0.1282:0.8718:0.0	.	582;638;638	B4E2B6;Q8TB72-3;Q8TB72	.;.;PUM2_HUMAN	S	638;638;638;582	ENSP00000338173:P638S;ENSP00000354370:P638S;ENSP00000385992:P638S;ENSP00000440093:P582S	ENSP00000338173:P638S	P	-	1	0	PUM2	20341870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.620000	0.98373	1.426000	0.47256	0.650000	0.86243	CCG		0.413	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		3	75	0	0	0	1	0	3	75				
GGT1	2678	broad.mit.edu	37	22	25024063	25024063	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr22:25024063C>T	ENST00000400382.1	+	14	2107	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L	GGT1_ENST00000400383.1_Missense_Mutation_p.S451L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.S107L|GGT1_ENST00000403838.1_Missense_Mutation_p.S107L|GGT1_ENST00000248923.4_Missense_Mutation_p.S451L|GGT1_ENST00000406383.2_Missense_Mutation_p.S451L|GGT1_ENST00000404223.1_Missense_Mutation_p.S107L|GGT1_ENST00000400380.1_Missense_Mutation_p.S451L|GGT1_ENST00000401885.1_Missense_Mutation_p.S107L|GGT1_ENST00000404920.1_Missense_Mutation_p.S107L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	451	Glutamate binding.				arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAGCCGCTCTCGTCCATGTGC	0.692																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1351-1353)tCg>tTg		gamma-glutamyltransferase 1	Glutathione(DB00143)						33.0	36.0	35.0					22																	25024063		2203	4286	6489	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25024063C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1352C>T	22.37:g.25024063C>T	ENSP00000383232:p.Ser451Leu					GGT1_ENST00000404532.1_Missense_Mutation_p.S107L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.S451L|GGT1_ENST00000401885.1_Missense_Mutation_p.S107L|GGT1_ENST00000248923.4_Missense_Mutation_p.S451L|GGT1_ENST00000404920.1_Missense_Mutation_p.S107L|GGT1_ENST00000404223.1_Missense_Mutation_p.S107L|GGT1_ENST00000403838.1_Missense_Mutation_p.S107L|GGT1_ENST00000400380.1_Missense_Mutation_p.S451L|GGT1_ENST00000406383.2_Missense_Mutation_p.S451L	p.S451L			P19440	GGT1_HUMAN			14	2107	+			451					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1352C>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.799920	0.50208	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	2.79	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	H	0.99498	4.595	0.49582	D	0.999806	D	0.61080	0.989	D	0.63192	0.912	T	0.75113	-0.3432	10	0.59425	D	0.04	-11.9218	13.7694	0.63015	0.0:1.0:0.0:0.0	.	451	P19440	GGT1_HUMAN	L	451;451;451;451;451;451;107;107;107;107;107	ENSP00000248923:S451L;ENSP00000393537:S451L;ENSP00000383232:S451L;ENSP00000383233:S451L;ENSP00000383231:S451L;ENSP00000385975:S451L;ENSP00000384381:S107L;ENSP00000385445:S107L;ENSP00000384820:S107L;ENSP00000385016:S107L;ENSP00000385001:S107L	ENSP00000248923:S451L	S	+	2	0	GGT1	23354063	1.000000	0.71417	0.277000	0.24703	0.174000	0.22865	7.128000	0.77217	1.872000	0.54250	0.454000	0.30748	TCG		0.692	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	127	0	0	0	1	0	3	127				
ELAVL1	1994	broad.mit.edu	37	19	8028430	8028430	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:8028430G>A	ENST00000407627.2	-	6	1047	c.918C>T	c.(916-918)aaC>aaT	p.N306N	ELAVL1_ENST00000351593.5_Silent_p.N333N|ELAVL1_ENST00000596459.1_Silent_p.N306N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	306	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGGTAGCCGTTCAGGCTGG	0.453																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(916-918)aaC>aaT		ELAV like RNA binding protein 1							98.0	98.0	98.0					19																	8028430		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028430G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.918C>T	19.37:g.8028430G>A						ELAVL1_ENST00000596459.1_Silent_p.N306N|ELAVL1_ENST00000351593.5_Silent_p.N333N	p.N306N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			6	1047	-			306			RRM 3.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.918C>T	CCDS12193.1																																																																																				0.453	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		3	106	0	0	0	1	0	3	106				
SDC3	9672	broad.mit.edu	37	1	31349713	31349713	+	Missense_Mutation	SNP	C	C	T	rs372651371		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:31349713C>T	ENST00000339394.6	-	3	730	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_Missense_Mutation_p.A128T	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	186	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGGTGGCGGTGGCCACT	0.637																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(382-384)Gcc>Acc		syndecan 3		C	THR/ALA	0,4396		0,0,2198	22.0	25.0	24.0		556	2.5	0.0	1		24	1,8571		0,1,4285	no	missense	SDC3	NM_014654.3	58	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	benign	186/443	31349713	1,12967	2198	4286	6484	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349713C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.556G>A	1.37:g.31349713C>T	ENSP00000344468:p.Ala186Thr					SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Missense_Mutation_p.A186T	p.A128T			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	1	1874	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	186			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.382G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	0.534	-0.856789	0.02630	0.0	1.17E-4	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.22134	1.99;1.97	4.99	2.46	0.29980	.	0.510735	0.18029	N	0.153967	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.13407	0.008;0.009	T	0.37009	-0.9724	10	0.06891	T	0.86	-5.1076	3.0789	0.06255	0.1993:0.5273:0.0:0.2734	.	186;128	O75056;D3DPN2	SDC3_HUMAN;.	T	128;186	ENSP00000338346:A128T;ENSP00000344468:A186T	ENSP00000338346:A128T	A	-	1	0	SDC3	31122300	0.261000	0.24063	0.010000	0.14722	0.005000	0.04900	0.471000	0.22100	0.756000	0.33013	0.462000	0.41574	GCC		0.637	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		16	24	0	0	0	1	0	16	24				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	32	0	0	0	1	0	4	32				
RIC1	57589	broad.mit.edu	37	9	5754856	5754856	+	Missense_Mutation	SNP	G	G	A	rs373564292		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:5754856G>A	ENST00000414202.2	+	15	1809	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAATATGATCGTGACAGGTGG	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12720	0.0		0.0	False		,,,				2504	0.0					ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1618-1620)Gtg>Atg		KIAA1432		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	79.0	80.0	80.0		1618,1507,1618	5.1	1.0	9		80	0,8600		0,0,4300	no	missense,missense,missense	KIAA1432	NM_001135920.2,NM_001206557.1,NM_020829.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	540/1166,503/1387,540/1424	5754856	1,13005	2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5754856G>A																												ENST00000414202.2:c.1618G>A	9.37:g.5754856G>A	ENSP00000416696:p.Val540Met					KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M	p.V540M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1809	+		Acute lymphoblastic leukemia(23;0.154)	540						Missense_Mutation	SNP	ENST00000414202.2	37	c.1618G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480277|4.480277	0.84747|0.84747	2.27E-4|2.27E-4	0.0|0.0	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72938|0.72938	0.3523|0.3523	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.74023	.|0.959;0.959;0.98;0.982	T|T	0.78206|0.78206	-0.2294|-0.2294	5|10	.|0.72032	.|D	.|0.01	-15.8557|-15.8557	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424;461;540;540	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	H|M	431|540;540;461;461;424	.|ENSP00000251879:V540M;ENSP00000416696:V540M;ENSP00000370943:V461M;ENSP00000402240:V461M	.|ENSP00000251879:V540M	R|V	+|+	2|1	0|0	KIAA1432|KIAA1432	5744856|5744856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.299	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			3	84	0	0	0	1	0	3	84				
TPTE2	93492	broad.mit.edu	37	13	20000569	20000569	+	Missense_Mutation	SNP	G	G	T	rs535760419		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:20000569G>T	ENST00000400230.2	-	18	1435	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	464	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTCACCGAAGAGAAAAACTG	0.363													g|||	1	0.000199681	0.0	0.0	5008	,	,		17172	0.0		0.0	False		,,,				2504	0.001					ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1390-1392)tCt>tAt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							118.0	110.0	113.0					13																	20000569		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20000569G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1391C>A	13.37:g.20000569G>T	ENSP00000383089:p.Ser464Tyr					TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y	p.S464Y			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	18	1435	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	464			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1391C>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	2.032	-0.422251	0.04734	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.06	1.17	0.20885	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.180613	0.49916	D	0.000122	T	0.81592	0.4855	L	0.54323	1.7	0.39786	D	0.97237	P;B;P	0.39131	0.661;0.209;0.586	P;B;B	0.45037	0.467;0.1;0.282	T	0.75334	-0.3354	9	.	.	.	-5.9594	6.6358	0.22881	0.0:0.2976:0.7024:0.0	.	353;387;464	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Y	424;353;464;387;387;464;424;353;464	ENSP00000372438:S424Y;ENSP00000382974:S353Y;ENSP00000383089:S464Y;ENSP00000255310:S387Y;ENSP00000375098:S387Y;ENSP00000372437:S464Y;ENSP00000372435:S424Y;ENSP00000442218:S353Y	.	S	-	2	0	TPTE2	18898569	0.222000	0.23652	0.410000	0.26471	0.101000	0.19017	0.556000	0.23438	0.392000	0.25172	0.194000	0.17425	TCT		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		6	149	1	0	0.00010058	1	0.000102815	6	149				
DERL1	79139	broad.mit.edu	37	8	124033740	124033740	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr8:124033740C>T	ENST00000259512.4	-	6	754		c.e6-1		DERL1_ENST00000419562.2_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000519018.1_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Splice_Site	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATAGCAGGCCTAGGATGGAA	0.413																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.e6-1		derlin 1							95.0	98.0	97.0					8																	124033740		2203	4300	6503	SO:0001630	splice_region_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124033740C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.454-1G>A	8.37:g.124033740C>T						DERL1_ENST00000523036.1_Splice_Site|DERL1_ENST00000519018.1_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000419562.2_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA		NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	754	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)							B3KW41|E9PH19	Splice_Site	SNP	ENST00000259512.4	37		CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013453	0.75161	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	5.68	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7457	0.69488	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	DERL1	124102921	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.667000	0.68067	1.409000	0.46915	0.655000	0.94253	.		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295	Intron	3	142	0	0	0	1	0	3	142				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	147	0	0	0	1	0	4	147				
MPP2	4355	broad.mit.edu	37	17	41960323	41960323	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:41960323G>A	ENST00000461854.1	-	6	558	c.473C>T	c.(472-474)cCt>cTt	p.P158L	MPP2_ENST00000377184.3_Missense_Mutation_p.P151L|MPP2_ENST00000536246.1_Missense_Mutation_p.P123L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P179L|MPP2_ENST00000269095.4_Missense_Mutation_p.P134L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Missense_Mutation_p.P123L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	158					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCATCGGGAGGTACAGGCTG	0.632																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(400-402)cCt>cTt		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							95.0	96.0	96.0					17																	41960323		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41960323G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.473C>T	17.37:g.41960323G>A	ENSP00000428286:p.Pro158Leu					MPP2_ENST00000461854.1_Missense_Mutation_p.P158L|MPP2_ENST00000377184.3_Missense_Mutation_p.P151L|MPP2_ENST00000536246.1_Missense_Mutation_p.P123L|MPP2_ENST00000523501.1_Missense_Mutation_p.P123L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P179L|MPP2_ENST00000473246.1_5'UTR	p.P134L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	705	-		Breast(137;0.00314)	158			L27 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	g	12.97	2.096251	0.36952	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241	T;T;T;T;T;T;T;T;T;T	0.56776	2.39;2.39;2.39;2.39;2.39;2.39;0.83;0.85;0.85;0.44	4.11	4.11	0.48088	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.57125	0.2032	M	0.81341	2.54	0.80722	D	1	B;B;B	0.23442	0.085;0.031;0.079	B;B;B	0.28385	0.022;0.089;0.049	T	0.60403	-0.7270	9	0.42905	T	0.14	.	14.3039	0.66373	0.0:0.0:1.0:0.0	.	179;158;151	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	L	151;134;158;123;123;179;117;134;123;134;140	ENSP00000366389:P151L;ENSP00000269095:P134L;ENSP00000428286:P158L;ENSP00000430540:P123L;ENSP00000438012:P123L;ENSP00000428182:P179L;ENSP00000428468:P117L;ENSP00000428354:P134L;ENSP00000430797:P134L;ENSP00000428938:P140L	ENSP00000269095:P134L	P	-	2	0	MPP2	39315849	1.000000	0.71417	0.315000	0.25238	0.383000	0.30230	6.395000	0.73228	2.283000	0.76528	0.650000	0.86243	CCT		0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		4	278	0	0	0	1	0	4	278				
LRP1	4035	broad.mit.edu	37	12	57559912	57559912	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:57559912G>A	ENST00000243077.3	+	17	3183	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	906	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGAACAACCGGTGCATCCCC	0.597																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2716-2718)cGg>cAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						103.0	84.0	90.0					12																	57559912		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559912G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2717G>A	12.37:g.57559912G>A	ENSP00000243077:p.Arg906Gln						p.R906Q	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	17	3183	+			906			LDL-receptor class A 4.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2717G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333267	0.97480	.	.	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	D	0.96253	0.8778	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94041	0.7309	10	0.20519	T	0.43	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	906	Q07954	LRP1_HUMAN	Q	906	ENSP00000243077:R906Q	ENSP00000243077:R906Q	R	+	2	0	LRP1	55846179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.519000	0.98025	2.894000	0.99253	0.655000	0.94253	CGG		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	118	0	0	0	1	0	3	118				
SPECC1	92521	broad.mit.edu	37	17	20107857	20107857	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:20107857G>A	ENST00000261503.5	+	4	546	c.495G>A	c.(493-495)gcG>gcA	p.A165A	SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395530.2_Silent_p.A84A|SPECC1_ENST00000395525.3_Silent_p.A84A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	165				AALESQV -> VRLSPKF (in Ref. 1; BAB16440). {ECO:0000305}.	cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAAAGGCTGCGCTTGAGTCCC	0.458																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(250-252)gcG>gcA		sperm antigen with calponin homology and coiled-coil domains 1							81.0	89.0	86.0					17																	20107857		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20107857G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.495G>A	17.37:g.20107857G>A						SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000395525.3_Silent_p.A84A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron	p.A84A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	460	+			165					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.252G>A	CCDS32590.1																																																																																				0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		3	101	0	0	0	1	0	3	101				
MFSD7	84179	broad.mit.edu	37	4	675823	675823	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:675823C>T	ENST00000404286.2	-	10	1622	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D|MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.G535D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	536					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGGACCCTGCCTGCGAGTCT	0.692																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1603-1605)gGc>gAc		major facilitator superfamily domain containing 7							30.0	31.0	31.0					4																	675823		2192	4299	6491	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:675823C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1607G>A	4.37:g.675823C>T	ENSP00000384616:p.Gly536Asp					MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D|MFSD7_ENST00000404286.2_Missense_Mutation_p.G536D	p.G535D			Q6UXD7	MFSD7_HUMAN			10	1917	-			536					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1604G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079624	0.55753	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.96940	-3.86;-3.26;-3.27;-4.18	2.61	2.61	0.31194	.	.	.	.	.	D	0.94016	0.8083	N	0.08118	0	0.19945	N	0.999949	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.989;0.988;0.995	D	0.85871	0.1416	9	0.87932	D	0	.	5.4952	0.16799	0.0:0.8458:0.0:0.1542	.	439;417;536;535	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	D	417;535;536;439	ENSP00000307545:G417D;ENSP00000320234:G535D;ENSP00000384616:G536D;ENSP00000423204:G439D	ENSP00000320234:G535D	G	-	2	0	MFSD7	665823	0.157000	0.22836	0.144000	0.22314	0.044000	0.14063	1.441000	0.35035	1.804000	0.52760	0.644000	0.83932	GGC		0.692	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		3	27	0	0	0	1	0	3	27				
BAZ2B	29994	broad.mit.edu	37	2	160240182	160240182	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:160240182G>A	ENST00000392783.2	-	24	4191	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000392782.1_Silent_p.D1196D|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Silent_p.D1132D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAATGTTCTTGTCGATTTCAC	0.289																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3694-3696)gaC>gaT		bromodomain adjacent to zinc finger domain, 2B							125.0	111.0	116.0					2																	160240182		1828	4064	5892	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160240182G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3696C>T	2.37:g.160240182G>A						BAZ2B_ENST00000392782.1_Silent_p.D1196D|BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000343439.5_Silent_p.D1132D	p.D1232D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			24	4191	-			1232					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.3696C>T	CCDS2209.2																																																																																				0.289	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	16	0	0	0	1	0	13	16				
NPAS4	266743	broad.mit.edu	37	11	66191839	66191839	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:66191839C>T	ENST00000311034.2	+	7	1654	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	493					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S493L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTGAAACCTCGGTCAGAAGC	0.577																																						ENST00000311034.2																			1	Substitution - Missense(1)	p.S493L(1)	skin(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1477-1479)tCg>tTg		neuronal PAS domain protein 4							228.0	220.0	223.0					11																	66191839		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191839C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1478C>T	11.37:g.66191839C>T	ENSP00000311196:p.Ser493Leu						p.S493L	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1654	+			493					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1478C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.205016	0.09704	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	4.56	3.63	0.41609	.	0.887861	0.09503	N	0.793320	T	0.28566	0.0707	N	0.08118	0	0.21553	N	0.999645	B	0.20261	0.043	B	0.12837	0.008	T	0.17684	-1.0361	10	0.37606	T	0.19	-0.4102	9.688	0.40111	0.2069:0.7931:0.0:0.0	.	493	Q8IUM7	NPAS4_HUMAN	L	493	ENSP00000311196:S493L	ENSP00000311196:S493L	S	+	2	0	NPAS4	65948415	0.091000	0.21658	0.037000	0.18230	0.113000	0.19764	3.889000	0.56212	1.103000	0.41568	0.563000	0.77884	TCG		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		16	499	0	0	0	1	0	16	499				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	52	0	0	0	1	0	5	52				
TNPO3	23534	broad.mit.edu	37	7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:128610259delG	ENST00000265388.5	-	20	2684	c.2541delC	c.(2539-2541)cccfs	p.P847fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000393245.1_Frame_Shift_Del_p.P881fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2641-2643)ccfs		transportin 3							155.0	156.0	156.0					7																	128610259		2203	4300	6503	SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610259delG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2541delC	7.37:g.128610259delG	ENSP00000265388:p.Pro847fs					TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs	p.P881fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	3016	-			847					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Del	DEL	ENST00000265388.5	37	c.2643delC	CCDS5809.1																																																																																				0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		7	433						7	433	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	64						10	64	---	---	---	---
CTR9	9646	broad.mit.edu	37	11	10789616	10789620	+	Splice_Site	DEL	TATAG	TATAG	-	rs374419778|rs559712136		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:10789616_10789620delTATAG	ENST00000361367.2	+	15	2298		c.e15-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTTGTTTCTATAGGAAAAGCGTC	0.38																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.e15-1		CTR9, Paf1/RNA polymerase II complex component																																				SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789616_10789620delTATAG	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1873-1TATAG>-	11.37:g.10789616_10789620delTATAG								NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	2298	+								D3DQV8|Q15015	Splice_Site	DEL	ENST00000361367.2	37		CCDS7805.1																																																																																				0.380	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Intron	27	59						27	59	---	---	---	---
IRX3	79191	broad.mit.edu	37	16	54318498	54318498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:54318498delG	ENST00000329734.3	-	2	2007	c.1295delC	c.(1294-1296)cctfs	p.P433fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	433	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGTGCGGAGGGGCAGAGCC	0.751																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(1294-1296)ctfs		iroquois homeobox 3							1.0	2.0	2.0					16																	54318498		934	2139	3073	SO:0001589	frameshift_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318498delG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1295delC	16.37:g.54318498delG	ENSP00000331608:p.Pro433fs						p.P433fs	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	2007	-			433			Pro-rich.		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Del	DEL	ENST00000329734.3	37	c.1295delC	CCDS10750.1																																																																																				0.751	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			2	4						2	4	---	---	---	---
