#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
MSGN1	343930	broad.mit.edu	37	2	17998326	17998326	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:17998326C>A	ENST00000281047.3	+	1	564	c.541C>A	c.(541-543)Ctc>Atc	p.L181I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	181					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTCACAGACCTCCTTAACCG	0.577																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(541-543)Ctc>Atc		mesogenin 1							39.0	43.0	41.0					2																	17998326		2043	4192	6235	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998326C>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.541C>A	2.37:g.17998326C>A	ENSP00000281047:p.Leu181Ile						p.L181I	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	564	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		181						Missense_Mutation	SNP	ENST00000281047.3	37	c.541C>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555088	0.45487	.	.	ENSG00000151379	ENST00000281047	D	0.97665	-4.48	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.121240	0.56097	D	0.000034	D	0.92061	0.7484	N	0.12746	0.255	0.49483	D	0.999796	P	0.48503	0.911	B	0.36766	0.232	D	0.91094	0.4909	10	0.21540	T	0.41	-21.4726	20.428	0.99075	0.0:1.0:0.0:0.0	.	181	A6NI15	MSGN1_HUMAN	I	181	ENSP00000281047:L181I	ENSP00000281047:L181I	L	+	1	0	MSGN1	17861807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.864000	0.48404	2.837000	0.97791	0.655000	0.94253	CTC		0.577	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		21	22	1	0	0.00229938	1	0.0023463	21	22				
NPR3	4883	broad.mit.edu	37	5	32724855	32724855	+	Missense_Mutation	SNP	C	C	T	rs374966067		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:32724855C>T	ENST00000265074.8	+	2	1164	c.821C>T	c.(820-822)gCg>gTg	p.A274V	NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000434067.2_Missense_Mutation_p.A58V|NPR3_ENST00000415167.2_Missense_Mutation_p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	274					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGCTGGTGGCGCACAGGCAT	0.532																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(820-822)gCg>gTg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	191.0	195.0	194.0		821,821,173	3.2	0.1	5		194	0,8588		0,0,4294	no	missense,missense,missense	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	64,64,64	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	274/541,274/542,58/325	32724855	1,12985	2199	4294	6493	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724855C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.821C>T	5.37:g.32724855C>T	ENSP00000265074:p.Ala274Val					NPR3_ENST00000415167.2_Missense_Mutation_p.A274V|NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000434067.2_Missense_Mutation_p.A58V	p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			2	1164	+			274					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.821C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671021	0.47781	2.27E-4	0.0	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.37	3.19	0.36642	Extracellular ligand-binding receptor (1);	0.099013	0.64402	N	0.000002	D	0.88514	0.6457	M	0.89534	3.04	0.42570	D	0.993179	D;P;P;P	0.57899	0.981;0.863;0.94;0.94	P;B;B;B	0.44394	0.448;0.173;0.174;0.174	D	0.85830	0.1391	10	0.35671	T	0.21	-8.7072	9.551	0.39310	0.0:0.7958:0.0:0.2042	.	58;58;274;274	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	51;58;58;274;274	ENSP00000425325:A51V;ENSP00000388408:A58V;ENSP00000402490:A58V;ENSP00000265074:A274V;ENSP00000398028:A274V	ENSP00000265074:A274V	A	+	2	0	NPR3	32760612	1.000000	0.71417	0.074000	0.20217	0.536000	0.34869	4.059000	0.57470	0.383000	0.24910	0.655000	0.94253	GCG		0.532	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		23	25	0	0	0	1	0	23	25				
DYSF	8291	broad.mit.edu	37	2	71871141	71871141	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:71871141G>A	ENST00000258104.3	+	41	4734	c.4457G>A	c.(4456-4458)gGg>gAg	p.G1486E	DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1486					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTCCATAGGGGAGAGGGAA	0.512																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4456-4458)gGg>gAg		dysferlin							100.0	77.0	85.0					2																	71871141		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871141G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4457G>A	2.37:g.71871141G>A	ENSP00000258104:p.Gly1486Glu					DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E	p.G1486E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			41	4734	+			1486					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4457G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211453	0.95069	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.74;-1.75;-1.66;-1.65;-1.75;-1.74;-1.75;-1.65;-1.65;-1.66;-1.75	6.06	6.06	0.98353	.	0.101639	0.64402	D	0.000002	D	0.90584	0.7048	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;B;D;D;D	0.89917	0.973;1.0;1.0;1.0;1.0;0.992;0.992;0.992;0.963;1.0;0.794;0.357;1.0;1.0;1.0	P;D;D;D;D;P;P;P;P;D;P;B;D;D;D	0.97110	0.84;1.0;1.0;1.0;1.0;0.903;0.903;0.903;0.845;1.0;0.618;0.237;1.0;1.0;1.0	D	0.88921	0.3366	10	0.40728	T	0.16	-39.2375	18.1147	0.89549	0.0:0.0:1.0:0.0	.	250;1518;1525;1508;1473;1504;1494;1503;1493;1517;1524;1507;1472;1487;1486	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	E	1517;1503;1524;1507;1486;1518;1487;1494;1508;1525;1504	ENSP00000407046:G1517E;ENSP00000387137:G1503E;ENSP00000386547:G1524E;ENSP00000398305:G1507E;ENSP00000258104:G1486E;ENSP00000386683:G1518E;ENSP00000377678:G1487E;ENSP00000386285:G1494E;ENSP00000386512:G1508E;ENSP00000386881:G1525E;ENSP00000386617:G1504E	ENSP00000258104:G1486E	G	+	2	0	DYSF	71724649	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	8.502000	0.90505	2.882000	0.98803	0.655000	0.94253	GGG		0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		4	9	0	0	0	1	0	4	9				
DISP1	84976	broad.mit.edu	37	1	223178729	223178729	+	Silent	SNP	G	G	A	rs370266646		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:223178729G>A	ENST00000284476.6	+	8	4154	c.3990G>A	c.(3988-3990)acG>acA	p.T1330T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1330					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1330T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCATCACGCACATCCACC	0.557																																						ENST00000284476.6																			1	Substitution - coding silent(1)	p.T1330T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3988-3990)acG>acA		dispatched homolog 1 (Drosophila)							62.0	57.0	58.0					1																	223178729		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178729G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3990G>A	1.37:g.223178729G>A							p.T1330T	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4154	+			1330					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.3990G>A	CCDS1536.1																																																																																				0.557	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	38	0	0	0	1	0	8	38				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	27	0	0	0	1	0	3	27				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	29	0	0	0	1	0	4	29				
DAK	26007	broad.mit.edu	37	11	61109956	61109956	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:61109956C>T	ENST00000394900.3	+	8	908	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGGTGTGCGCCGGATAAA	0.592																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(679-681)Cgc>Tgc		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							109.0	115.0	113.0					11																	61109956		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109956C>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.679C>T	11.37:g.61109956C>T	ENSP00000378360:p.Arg227Cys						p.R227C	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			8	908	+			227			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.679C>T	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031020	0.54790	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30981	1.51;1.51	5.67	4.76	0.60689	Dak kinase (2);	0.169984	0.51477	N	0.000090	T	0.33089	0.0851	L	0.59912	1.85	0.58432	D	0.999994	B;B	0.18013	0.025;0.009	B;B	0.18561	0.019;0.022	T	0.11299	-1.0593	10	0.56958	D	0.05	-4.0481	14.7626	0.69617	0.0:0.9303:0.0:0.0697	.	227;227	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	C	227;226	ENSP00000378360:R227C;ENSP00000432539:R226C	ENSP00000378360:R227C	R	+	1	0	DAK	60866532	0.974000	0.33945	1.000000	0.80357	0.910000	0.53928	2.507000	0.45442	1.397000	0.46682	0.563000	0.77884	CGC		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		4	120	0	0	0	1	0	4	120				
OBSCN	84033	broad.mit.edu	37	1	228511247	228511247	+	Missense_Mutation	SNP	C	C	T	rs373582245		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:228511247C>T	ENST00000422127.1	+	56	15636	c.15592C>T	c.(15592-15594)Cgc>Tgc	p.R5198C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6155C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5198	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCGTCTACCGCTGCCTGGC	0.572																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18463-18465)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	1,4357		0,1,2178	71.0	75.0	73.0		15592,15592	5.4	1.0	1		73	0,8550		0,0,4275	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,1,6453	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging,probably-damaging	5198/7969,5198/6621	228511247	1,12907	2179	4275	6454	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511247C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15592C>T	1.37:g.228511247C>T	ENSP00000409493:p.Arg5198Cys					OBSCN_ENST00000422127.1_Missense_Mutation_p.R5198C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C	p.R6155C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			67	18537	+		Prostate(94;0.0405)	5198			Ig-like 53.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18463C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002265	0.93227	2.29E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.45308	-0.9270	10	0.62326	D	0.03	.	14.2492	0.66009	0.1488:0.8512:0.0:0.0	.	5198;5198	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5198;5198;2832;2317	ENSP00000284548:R5198C;ENSP00000409493:R5198C;ENSP00000355668:R2832C;ENSP00000355670:R2317C	ENSP00000284548:R5198C	R	+	1	0	OBSCN	226577870	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.721000	0.68477	2.808000	0.96608	0.655000	0.94253	CGC		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	5	0	0	0	1	0	7	5				
NPC1L1	29881	broad.mit.edu	37	7	44575860	44575860	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:44575860C>T	ENST00000289547.4	-	4	1904	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	617					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTACCTCAGCCATGAACGTG	0.637																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1849-1851)Gct>Act		NPC1-like 1	Ezetimibe(DB00973)						75.0	72.0	73.0					7																	44575860		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575860C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1849G>A	7.37:g.44575860C>T	ENSP00000289547:p.Ala617Thr					NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T	p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1904	-			617					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1849G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	17.14	3.312232	0.60414	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-1.92	4.11	4.11	0.48088	.	0.061993	0.64402	D	0.000006	D	0.90676	0.7075	L	0.35593	1.075	0.45439	D	0.998415	P;D;P;P	0.71674	0.739;0.998;0.575;0.9	B;P;B;B	0.60682	0.308;0.878;0.208;0.435	D	0.86975	0.2100	10	0.09590	T	0.72	-8.045	11.8342	0.52314	0.0:1.0:0.0:0.0	.	617;617;617;617	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	T	617	ENSP00000289547:A617T;ENSP00000370552:A617T;ENSP00000438033:A617T;ENSP00000404670:A617T	ENSP00000289547:A617T	A	-	1	0	NPC1L1	44542385	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.262000	0.72514	1.813000	0.52934	0.298000	0.19748	GCT		0.637	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	68	0	0	0	1	0	4	68				
PHF3	23469	broad.mit.edu	37	6	64404570	64404570	+	Missense_Mutation	SNP	C	C	T	rs139681301		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:64404570C>T	ENST00000262043.3	+	6	2936	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	PHF3_ENST00000393387.1_Missense_Mutation_p.R866W			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R866R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTTTACCTCGGAGATCCTC	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			1	Substitution - coding silent(1)	p.R866R(1)	lung(1)	breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2596-2598)Cgg>Tgg		PHD finger protein 3		C	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	92.0	104.0	100.0		2596	3.5	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PHF3	NM_015153.2	101	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	866/2040	64404570	2,13002	2202	4300	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404570C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2596C>T	6.37:g.64404570C>T	ENSP00000262043:p.Arg866Trp					PHF3_ENST00000393387.1_Missense_Mutation_p.R866W	p.R866W			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2936	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		866					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2596C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876055	0.51695	2.27E-4	1.16E-4	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.50548	1.92;1.63;0.74;2.04;0.95;2.04	5.33	3.46	0.39613	.	0.000000	0.33753	N	0.004590	T	0.46502	0.1396	M	0.63428	1.95	0.41892	D	0.990379	D	0.76494	0.999	P	0.58970	0.849	T	0.49643	-0.8918	10	0.56958	D	0.05	-10.3898	9.9707	0.41752	0.1564:0.6932:0.1505:0.0	.	866	Q92576	PHF3_HUMAN	W	680;778;135;866;819;866	ENSP00000424694:R680W;ENSP00000425227:R778W;ENSP00000425338:R135W;ENSP00000262043:R866W;ENSP00000424078:R819W;ENSP00000377048:R866W	ENSP00000262043:R866W	R	+	1	2	PHF3	64462529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.162000	0.50755	0.665000	0.31066	0.555000	0.69702	CGG		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			6	168	0	0	0	1	0	6	168				
ZNF91	7644	broad.mit.edu	37	19	23544148	23544148	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:23544148G>C	ENST00000300619.7	-	4	1838	c.1633C>G	c.(1633-1635)Ccc>Gcc	p.P545A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	545					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCTA	0.328																																						ENST00000300619.7																			0											c.(1633-1635)Ccc>Gcc		zinc finger protein 91							35.0	37.0	37.0					19																	23544148		2067	4247	6314	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544148G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1633C>G	19.37:g.23544148G>C	ENSP00000300619:p.Pro545Ala					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A	p.P545A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1838	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	545					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1633C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420930	0.25639	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.28255	2.34;1.62	1.71	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43010	0.1228	M	0.85197	2.74	0.26560	N	0.97376	D;B	0.56035	0.974;0.268	P;B	0.47075	0.536;0.062	T	0.40365	-0.9567	9	0.62326	D	0.03	.	10.3697	0.44046	0.0:0.0:1.0:0.0	.	513;545	Q05481-2;Q05481	.;ZNF91_HUMAN	A	545;513	ENSP00000300619:P545A;ENSP00000380272:P513A	ENSP00000300619:P545A	P	-	1	0	ZNF91	23335988	0.017000	0.18338	0.003000	0.11579	0.024000	0.10985	1.211000	0.32382	0.921000	0.36994	0.205000	0.17691	CCC		0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	30	0	0	0	1	0	11	30				
GRWD1	83743	broad.mit.edu	37	19	48953645	48953645	+	Missense_Mutation	SNP	C	C	T	rs201501296		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:48953645C>T	ENST00000253237.5	+	4	777	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	182						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGCGCTGCGGCGGCTTCTGCA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13495	0.001		0.0	False		,,,				2504	0.0					ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(544-546)Cgg>Tgg		glutamate-rich WD repeat containing 1							70.0	74.0	73.0					19																	48953645		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48953645C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.544C>T	19.37:g.48953645C>T	ENSP00000253237:p.Arg182Trp						p.R182W	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	777	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	182					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.544C>T	CCDS12720.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.51	2.855695	0.51376	.	.	ENSG00000105447	ENST00000253237	T	0.01347	4.99	3.69	-0.224	0.13115	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.471750	0.22351	N	0.061220	T	0.02193	0.0068	M	0.63843	1.955	0.35577	D	0.805998	P	0.45594	0.862	B	0.40741	0.339	T	0.54193	-0.8330	10	0.87932	D	0	-29.2731	11.2697	0.49131	0.5645:0.4355:0.0:0.0	.	182	Q9BQ67	GRWD1_HUMAN	W	182	ENSP00000253237:R182W	ENSP00000253237:R182W	R	+	1	2	GRWD1	53645457	0.174000	0.23070	1.000000	0.80357	0.978000	0.69477	-0.173000	0.09854	0.311000	0.23014	-0.314000	0.08810	CGG		0.647	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		10	21	0	0	0	1	0	10	21				
CELSR2	1952	broad.mit.edu	37	1	109815272	109815272	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:109815272G>A	ENST00000271332.3	+	30	8126	c.8065G>A	c.(8065-8067)Gca>Aca	p.A2689T	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2689					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGGAGTCCGCACTGAACCC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(8065-8067)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 2							26.0	30.0	28.0					1																	109815272		2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815272G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8065G>A	1.37:g.109815272G>A	ENSP00000271332:p.Ala2689Thr					CELSR2_ENST00000498157.1_3'UTR	p.A2689T	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	30	8126	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2689					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8065G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	5.739	0.320716	0.10845	.	.	ENSG00000143126	ENST00000271332	T	0.66280	-0.2	5.18	5.18	0.71444	.	.	.	.	.	T	0.21468	0.0517	N	0.24115	0.695	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	9	0.17369	T	0.5	.	6.5066	0.22198	0.7667:0.0:0.2333:0.0	.	2689	Q9HCU4	CELR2_HUMAN	T	2689	ENSP00000271332:A2689T	ENSP00000271332:A2689T	A	+	1	0	CELSR2	109616795	0.052000	0.20516	0.997000	0.53966	0.980000	0.70556	1.732000	0.38146	0.829000	0.34733	-0.361000	0.07541	GCA		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	23	0	0	0	1	0	3	23				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	56	1	0	0.004672	1	0.004672	3	56				
ATP7A	538	broad.mit.edu	37	X	77267107	77267107	+	Missense_Mutation	SNP	G	G	A	rs2234936		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:77267107G>A	ENST00000341514.6	+	9	2263	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R703H	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	703			R -> H (in dbSNP:rs2234936).		blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTCCTGGAGCGCCAGATTCTT	0.353																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(2107-2109)cGc>cAc		ATPase, Cu++ transporting, alpha polypeptide							222.0	215.0	217.0					X																	77267107		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267107G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2108G>A	X.37:g.77267107G>A	ENSP00000345728:p.Arg703His					ATP7A_ENST00000343533.5_Missense_Mutation_p.R703H|ATP7A_ENST00000350425.4_Intron	p.R703H	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			9	2263	+			703		R -> H (in dbSNP:rs2234936).			B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2108G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922838	0.33908	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.96200	-3.89;-3.94	5.57	-0.54	0.11861	.	0.417121	0.25759	N	0.028500	D	0.84383	0.5460	N	0.05441	-0.05	0.58432	D	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.68610	-0.5363	10	0.12766	T	0.61	0.0693	5.8989	0.18955	0.5651:0.0:0.3058:0.1291	rs2234936	703	Q04656	ATP7A_HUMAN	H	703	ENSP00000343026:R703H;ENSP00000345728:R703H	ENSP00000345728:R703H	R	+	2	0	ATP7A	77153763	0.216000	0.23585	0.991000	0.47740	0.955000	0.61496	0.379000	0.20585	-0.155000	0.11098	0.538000	0.68166	CGC		0.353	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		5	200	0	0	0	1	0	5	200				
OR8H3	390152	broad.mit.edu	37	11	55890648	55890648	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:55890648C>T	ENST00000313472.3	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAGTCTTATTCCTTGGGAAGA	0.378																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(799-801)tCc>tTc		olfactory receptor, family 8, subfamily H, member 3							102.0	103.0	102.0					11																	55890648		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890648C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.800C>T	11.37:g.55890648C>T	ENSP00000323928:p.Ser267Phe						p.S267F	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	800	+	Esophageal squamous(21;0.00693)		267					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.800C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318810	0.23994	.	.	ENSG00000181761	ENST00000313472	T	0.00277	8.34	3.62	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.00580	0.0019	M	0.83852	2.665	0.09310	N	1	D	0.63046	0.992	D	0.66979	0.948	T	0.34576	-0.9823	10	0.72032	D	0.01	.	9.604	0.39622	0.0:0.8149:0.0:0.1851	.	267	Q8N146	OR8H3_HUMAN	F	267	ENSP00000323928:S267F	ENSP00000323928:S267F	S	+	2	0	OR8H3	55647224	0.000000	0.05858	0.750000	0.31169	0.246000	0.25737	0.185000	0.16958	1.734000	0.51633	0.173000	0.16961	TCC		0.378	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		29	108	0	0	0	1	0	29	108				
LOC150776	150776	broad.mit.edu	37	2	132276650	132276650	+	RNA	SNP	G	G	C	rs28712373	byFrequency	TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:132276650G>C	ENST00000438378.2	+	0	1970					NR_026922.1																						GCTCATCACAGAGGCCAAACA	0.632																																						ENST00000438378.2																			0																																																			0							g.chr2:132276650G>C																													2.37:g.132276650G>C								NR_026922.1						0	1970	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.632	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			5	19	0	0	0	1	0	5	19				
CUBN	8029	broad.mit.edu	37	10	16941019	16941019	+	Silent	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr10:16941019T>C	ENST00000377833.4	-	54	8639	c.8574A>G	c.(8572-8574)ggA>ggG	p.G2858G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2858	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGACATTGTCCATCACCGC	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8572-8574)ggA>ggG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						174.0	156.0	162.0					10																	16941019		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941019T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8574A>G	10.37:g.16941019T>C							p.G2858G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			54	8639	-			2858			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8574A>G	CCDS7113.1																																																																																				0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		38	73	0	0	0	1	0	38	73				
TPTE	7179	broad.mit.edu	37	21	10943011	10943011	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr21:10943011A>T	ENST00000361285.4	-	12	905	c.576T>A	c.(574-576)caT>caA	p.H192Q	TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.H174Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	192					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGAAGTAAATGTGTCCATC	0.328																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(520-522)caT>caA		transmembrane phosphatase with tensin homology							67.0	62.0	64.0					21																	10943011		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10943011A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.576T>A	21.37:g.10943011A>T	ENSP00000355208:p.His192Gln					TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000361285.4_Missense_Mutation_p.H192Q|TPTE_ENST00000415664.2_5'UTR	p.H174Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	889	-			192					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.522T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	7.661	0.685028	0.14973	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98345	-4.88;-4.88;-4.88	2.07	-0.979	0.10276	Ion transport (1);	0.813411	0.10298	U	0.691502	D	0.94729	0.8299	L	0.29908	0.895	0.09310	N	1	B;B;P	0.45011	0.109;0.109;0.848	B;B;P	0.45856	0.031;0.031;0.495	D	0.90244	0.4288	10	0.29301	T	0.29	-1.4681	2.932	0.05802	0.4391:0.2453:0.3155:0.0	.	154;174;192	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	174;192;154	ENSP00000298232:H174Q;ENSP00000355208:H192Q;ENSP00000344441:H154Q	ENSP00000298232:H174Q	H	-	3	2	TPTE	9964882	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	1.752000	0.38349	-0.198000	0.10333	0.163000	0.16589	CAT		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			10	64	0	0	0	1	0	10	64				
VGLL2	245806	broad.mit.edu	37	6	117593623	117593623	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:117593623G>A	ENST00000326274.5	+	4	1110	c.920G>A	c.(919-921)cGt>cAt	p.R307H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	307					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGCTCGTCGTTATTCCCTC	0.532																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(919-921)cGt>cAt		vestigial like 2 (Drosophila)							513.0	433.0	461.0					6																	117593623		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117593623G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.920G>A	6.37:g.117593623G>A	ENSP00000320957:p.Arg307His					VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	p.R307H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1110	+			307					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.920G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808434	0.50421	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.53423	0.62	4.7	3.82	0.43975	.	0.232872	0.37669	N	0.001999	T	0.28896	0.0717	L	0.54323	1.7	0.46981	D	0.999279	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31641	-0.9936	10	0.66056	D	0.02	-2.0266	13.1015	0.59222	0.0783:0.0:0.9217:0.0	.	133;307	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	H	133;307	ENSP00000320957:R307H	ENSP00000320957:R307H	R	+	2	0	VGLL2	117700316	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	6.928000	0.75846	1.317000	0.45149	0.561000	0.74099	CGT		0.532	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		102	206	0	0	0	1	0	102	206				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	44	0	0	0	1	0	20	44				
HNF1B	6928	broad.mit.edu	37	17	36104728	36104728	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr17:36104728G>T	ENST00000225893.4	-	1	509	c.148C>A	c.(148-150)Cct>Act	p.P50T	HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	50					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGCTGCCAGGGGACAGGGGC	0.682																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(148-150)Cct>Act		HNF1 homeobox B							40.0	45.0	43.0					17																	36104728		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36104728G>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.148C>A	17.37:g.36104728G>T	ENSP00000225893:p.Pro50Thr					HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T	p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		1	509	-		Breast(25;0.00765)|Ovarian(249;0.15)	50					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.148C>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295044	0.81025	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98313	-4.86;-4.86	5.07	5.07	0.68467	Hepatocyte nuclear factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.91635	0.783;0.999	D	0.99541	1.0963	10	0.56958	D	0.05	-29.643	17.6136	0.88061	0.0:0.0:1.0:0.0	.	50;50	E0YMJ6;P35680	.;HNF1B_HUMAN	T	50	ENSP00000225893:P50T;ENSP00000412212:P50T	ENSP00000225893:P50T	P	-	1	0	HNF1B	33178841	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.621000	0.54210	2.618000	0.88619	0.561000	0.74099	CCT		0.682	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		10	25	1	0	7.48243e-07	1	7.96003e-07	10	25				
HUS1B	135458	broad.mit.edu	37	6	656483	656483	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:656483G>A	ENST00000380907.2	-	1	480	c.462C>T	c.(460-462)gaC>gaT	p.D154D	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	154					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGATGCTCGCGTCGGAGGCGC	0.701																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(460-462)gaC>gaT		HUS1 checkpoint homolog b (S. pombe)							42.0	47.0	45.0					6																	656483		2188	4257	6445	SO:0001819	synonymous_variant	135458							g.chr6:656483G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.462C>T	6.37:g.656483G>A						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.D154D	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	480	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	154					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.462C>T	CCDS4470.1																																																																																				0.701	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		18	57	0	0	0	1	0	18	57				
ECT2L	345930	broad.mit.edu	37	6	139186182	139186182	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:139186182C>G	ENST00000423192.1	+	11	1502	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	447							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTCCATCTACTTCTGCG	0.453			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1339-1341)atC>atG		epithelial cell transforming sequence 2 oncogene-like							77.0	75.0	75.0					6																	139186182		1863	4093	5956	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139186182C>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1341C>G	6.37:g.139186182C>G	ENSP00000387388:p.Ile447Met					ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M|ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M|ECT2L_ENST00000495970.1_3'UTR	p.I447M			Q008S8	ECT2L_HUMAN			11	1502	+			447					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1341C>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879231	0.17395	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75589	0.16;0.16;-0.95	5.18	4.3	0.51218	.	0.889901	0.08892	U	0.878547	T	0.60495	0.2273	L	0.57536	1.79	0.25838	N	0.984087	P;B	0.35628	0.513;0.379	B;B	0.37422	0.249;0.157	T	0.55186	-0.8180	10	0.42905	T	0.14	0.0385	11.8222	0.52245	0.0:0.9114:0.0:0.0886	.	378;447	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	447;447;378	ENSP00000387388:I447M;ENSP00000356655:I447M;ENSP00000442307:I378M	ENSP00000356655:I447M	I	+	3	3	ECT2L	139227875	0.905000	0.30787	0.968000	0.41197	0.043000	0.13939	1.284000	0.33249	2.563000	0.86464	0.591000	0.81541	ATC		0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		9	27	0	0	0	1	0	9	27				
DPP4	1803	broad.mit.edu	37	2	162881325	162881325	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:162881325T>C	ENST00000360534.3	-	11	1572	c.1012A>G	c.(1012-1014)Aac>Gac	p.N338D		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	338					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACTAAGCAGTTCCATCTTCCA	0.463																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1012-1014)Aac>Gac		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						223.0	199.0	207.0					2																	162881325		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162881325T>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1012A>G	2.37:g.162881325T>C	ENSP00000353731:p.Asn338Asp						p.N338D	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			11	1572	-			338					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1012A>G	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273929	0.23221	.	.	ENSG00000197635	ENST00000360534	D	0.95756	-3.8	5.47	1.67	0.24075	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.556905	0.19558	N	0.111397	D	0.84547	0.5496	N	0.11756	0.17	0.24846	N	0.992438	B	0.02656	0.0	B	0.01281	0.0	T	0.70124	-0.4958	10	0.08381	T	0.77	-27.5459	1.8695	0.03205	0.1315:0.1509:0.1364:0.5812	.	338	P27487	DPP4_HUMAN	D	338	ENSP00000353731:N338D	ENSP00000353731:N338D	N	-	1	0	DPP4	162589571	0.027000	0.19231	0.267000	0.24556	0.952000	0.60782	-0.024000	0.12435	0.356000	0.24157	0.533000	0.62120	AAC		0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			84	113	0	0	0	1	0	84	113				
BRCA2	675	broad.mit.edu	37	13	32907209	32907209	+	Missense_Mutation	SNP	G	G	A	rs138734772|rs80359291|rs397507596|rs80359292		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr13:32907209G>A	ENST00000380152.3	+	10	1827	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E532K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	532					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTTAAAAAAGAAACTGAAGC	0.368			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM057322	BRCA2	M	rs138734772	c.(1594-1596)Gaa>Aaa	Homologous recombination	breast cancer 2, early onset							79.0	89.0	86.0					13																	32907209		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907209G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1594G>A	13.37:g.32907209G>A	ENSP00000369497:p.Glu532Lys	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E532K	p.E532K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1821	+		Lung SC(185;0.0262)	532					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1594G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	5.339	0.247817	0.10130	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00768	5.72;5.72	5.5	1.51	0.23008	.	1.267280	0.05242	N	0.512374	T	0.00754	0.0025	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.003;0.007	T	0.49725	-0.8909	10	0.23302	T	0.38	.	4.0481	0.09783	0.4033:0.0:0.4324:0.1643	.	532;532	P51587;A1YBP1	BRCA2_HUMAN;.	K	532;532;530	ENSP00000369497:E532K;ENSP00000439902:E532K	ENSP00000369497:E532K	E	+	1	0	BRCA2	31805209	0.994000	0.37717	0.001000	0.08648	0.013000	0.08279	0.869000	0.27996	0.022000	0.15160	-0.157000	0.13467	GAA		0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		36	105	0	0	0	1	0	36	105				
OR10R2	343406	broad.mit.edu	37	1	158450457	158450457	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:158450457C>T	ENST00000368152.1	+	1	790	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGCGCCTCTCACCTCAGTGT	0.478																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(790-792)Cac>Tac		olfactory receptor, family 10, subfamily R, member 2							210.0	171.0	184.0					1																	158450457		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450457C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.790C>T	1.37:g.158450457C>T	ENSP00000357134:p.His264Tyr					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.H264Y	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	790	+	all_hematologic(112;0.0378)		264					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.790C>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939612	0.73557	.	.	ENSG00000198965	ENST00000368152	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	H	0.95745	3.715	0.40887	D	0.984047	D	0.54207	0.965	P	0.59643	0.861	T	0.52601	-0.8554	9	0.72032	D	0.01	.	15.4945	0.75637	0.0:1.0:0.0:0.0	.	264	Q8NGX6	O10R2_HUMAN	Y	264	ENSP00000357134:H264Y	ENSP00000357134:H264Y	H	+	1	0	OR10R2	156717081	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	6.907000	0.75724	2.135000	0.66039	0.655000	0.94253	CAC		0.478	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		22	39	0	0	0	1	0	22	39				
ITLN1	55600	broad.mit.edu	37	1	160851959	160851959	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:160851959T>C	ENST00000326245.3	-	4	308	c.193A>G	c.(193-195)Atc>Gtc	p.I65V	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	65	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCTGGTAGATAACACCATTC	0.577																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(193-195)Atc>Gtc		intelectin 1 (galactofuranose binding)							86.0	75.0	79.0					1																	160851959		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851959T>C	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.193A>G	1.37:g.160851959T>C	ENSP00000323587:p.Ile65Val						p.I65V	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	308	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		65			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.193A>G	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.674156	0.00758	.	.	ENSG00000179914	ENST00000326245	T	0.16073	2.37	4.17	-4.14	0.03892	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.147120	0.06594	N	0.752514	T	0.02156	0.0067	N	0.16233	0.39	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45145	-0.9281	10	0.11794	T	0.64	-2.0297	7.7063	0.28653	0.1361:0.5298:0.0:0.3341	.	65	Q8WWA0	ITLN1_HUMAN	V	65	ENSP00000323587:I65V	ENSP00000323587:I65V	I	-	1	0	ITLN1	159118583	0.002000	0.14202	0.069000	0.20011	0.679000	0.39708	-0.496000	0.06436	-0.770000	0.04614	-1.150000	0.01838	ATC		0.577	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		4	37	0	0	0	1	0	4	37				
DCTN1	1639	broad.mit.edu	37	2	74595107	74595107	+	Missense_Mutation	SNP	C	C	T	rs140523637		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:74595107C>T	ENST00000361874.3	-	17	2323	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	669					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCTCATAGCGGTGTAGCGT	0.617																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2005-2007)cGc>cAc		dynactin 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	56.0		1946,1604,1895,1985,2006,1604	5.2	1.0	2	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	649/1254,535/1140,632/1237,662/1272,669/1279,535/1145	74595107	1,13005	2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595107C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2006G>A	2.37:g.74595107C>T	ENSP00000354791:p.Arg669His					DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H	p.R669H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			17	2323	-			669					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2006G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120329	0.37436	2.27E-4	0.0	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.25	5.25	0.73442	.	0.000000	0.43260	D	0.000583	T	0.74329	0.3702	N	0.12182	0.205	0.46849	D	0.999222	B;B;D;P;P;D	0.55385	0.168;0.162;0.971;0.462;0.532;0.964	B;B;P;B;B;B	0.46585	0.021;0.021;0.521;0.16;0.045;0.386	T	0.75468	-0.3307	10	0.51188	T	0.08	-5.8753	7.8051	0.29198	0.0:0.8313:0.0:0.1687	.	649;632;669;662;535;535	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	H	669;662;652;535;535;632;652;649	ENSP00000354791:R669H;ENSP00000377571:R662H;ENSP00000384844:R535H;ENSP00000387270:R535H;ENSP00000386406:R632H;ENSP00000387327:R652H;ENSP00000386843:R649H	ENSP00000354791:R669H	R	-	2	0	DCTN1	74448615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.796000	0.55507	2.717000	0.92951	0.655000	0.94253	CGC		0.617	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		7	24	0	0	0	1	0	7	24				
LMTK2	22853	broad.mit.edu	37	7	97821950	97821950	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:97821950T>G	ENST00000297293.5	+	11	2466	c.2173T>G	c.(2173-2175)Ttt>Gtt	p.F725V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	725					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAACTTTTTATTTCTTCAAGA	0.328																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2173-2175)Ttt>Gtt		lemur tyrosine kinase 2							42.0	48.0	46.0					7																	97821950		2201	4297	6498	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821950T>G	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2173T>G	7.37:g.97821950T>G	ENSP00000297293:p.Phe725Val						p.F725V	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2466	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		725					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2173T>G	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731820	0.89390	.	.	ENSG00000164715	ENST00000297293	D	0.85773	-2.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92492	0.6001	10	0.87932	D	0	.	15.283	0.73801	0.0:0.0:0.0:1.0	.	725	Q8IWU2	LMTK2_HUMAN	V	725	ENSP00000297293:F725V	ENSP00000297293:F725V	F	+	1	0	LMTK2	97659886	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.655000	0.83696	2.254000	0.74563	0.533000	0.62120	TTT		0.328	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		12	59	0	0	0	1	0	12	59				
BRD3	8019	broad.mit.edu	37	9	136901336	136901336	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr9:136901336T>C	ENST00000303407.7	-	10	1939	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	585	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGCAGCCGGTTGATGTCCAG	0.592			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1753-1755)aAc>aGc		bromodomain containing 3							70.0	67.0	68.0					9																	136901336		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901336T>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1754A>G	9.37:g.136901336T>C	ENSP00000305918:p.Asn585Ser					BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.N585S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1939	-			585					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1754A>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779531	0.90195	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.23147	1.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.49778	1.585	0.80722	D	1	P	0.42556	0.783	P	0.46320	0.512	T	0.02705	-1.1121	10	0.32370	T	0.25	-34.8003	14.1802	0.65568	0.0:0.0:0.0:1.0	.	585	Q15059	BRD3_HUMAN	S	585;264	ENSP00000305918:N585S	ENSP00000305918:N585S	N	-	2	0	BRD3	135891157	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.807000	0.86032	1.946000	0.56461	0.402000	0.26972	AAC		0.592	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		9	20	0	0	0	1	0	9	20				
DNAJC6	9829	broad.mit.edu	37	1	65871611	65871611	+	Silent	SNP	G	G	A	rs367640667		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:65871611G>A	ENST00000395325.3	+	16	2272	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAGGATTCCCGCCTCTCAGCT	0.537																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(2113-2115)ccG>ccA		DnaJ (Hsp40) homolog, subfamily C, member 6		G		1,4405		0,1,2202	46.0	51.0	49.0		2115	-10.0	0.8	1		49	0,8600		0,0,4300	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		705/914	65871611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65871611G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2115G>A	1.37:g.65871611G>A						DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	p.P705P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			16	2272	+			705			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.2115G>A	CCDS30739.1																																																																																				0.537	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			19	6	0	0	0	1	0	19	6				
RASAL2	9462	broad.mit.edu	37	1	178427644	178427644	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:178427644A>G	ENST00000462775.1	+	12	2919	c.2794A>G	c.(2794-2796)Aaa>Gaa	p.K932E	RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000448150.3_Missense_Mutation_p.K1062E	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	932					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCTGTTCCCAAAGTTAGAGC	0.562																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3184-3186)Aaa>Gaa		RAS protein activator like 2							62.0	67.0	66.0					1																	178427644		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427644A>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2794A>G	1.37:g.178427644A>G	ENSP00000420558:p.Lys932Glu					RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000462775.1_Missense_Mutation_p.K932E	p.K1062E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	4002	+			932					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3184A>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.56|19.56	3.851422|3.851422	0.71719|0.71719	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.12465|.	2.68;2.68;2.68|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.321147|.	0.33813|.	N|.	0.004530|.	T|T	0.51244|0.51244	0.1663|0.1663	N|N	0.19112|0.19112	0.55|0.55	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D|.	0.69078|.	0.997;0.975;0.996|.	D;P;D|.	0.80764|.	0.994;0.843;0.987|.	T|T	0.48636|0.48636	-0.9018|-0.9018	10|5	0.49607|.	T|.	0.09|.	.|.	15.5468|15.5468	0.76108|0.76108	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1062;932;1073|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	E|R	1062;1073;932|482	ENSP00000407768:K1062E;ENSP00000356621:K1073E;ENSP00000420558:K932E|.	ENSP00000356621:K1073E|.	K|Q	+|+	1|2	0|0	RASAL2|RASAL2	176694267|176694267	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.603000|6.603000	0.74145|0.74145	2.061000|2.061000	0.61500|0.61500	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.562	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		22	35	0	0	0	1	0	22	35				
NDUFB5	4711	broad.mit.edu	37	3	179336258	179336258	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:179336258A>G	ENST00000259037.3	+	5	512	c.398A>G	c.(397-399)tAt>tGt	p.Y133C	NDUFB5_ENST00000493866.1_Missense_Mutation_p.Y81C|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	133			Y -> H (in dbSNP:rs4147793).		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GAAAAGATATATGAAAGAACA	0.378																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(241-243)tAt>tGt		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						80.0	80.0	80.0					3																	179336258		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179336258A>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.398A>G	3.37:g.179336258A>G	ENSP00000259037:p.Tyr133Cys					NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C|NDUFB5_ENST00000259037.3_Missense_Mutation_p.Y133C	p.Y81C	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		3	267	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		133					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.242A>G	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.23|14.23	2.472967|2.472967	0.43942|0.43942	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.63255	.|-0.03;-0.03;-0.03	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82907|0.82907	0.5139|0.5139	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.86477|0.86477	0.1789|0.1789	5|10	.|0.87932	.|D	.|0	-14.082|-14.082	15.4432|15.4432	0.75204|0.75204	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|81;133	.|Q561V6;O43674	.|.;NDUB5_HUMAN	V|C	150|133;81;121	.|ENSP00000259037:Y133C;ENSP00000419656:Y81C;ENSP00000419248:Y121C	.|ENSP00000259037:Y133C	M|Y	+|+	1|2	0|0	NDUFB5|NDUFB5	180818952|180818952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	6.599000|6.599000	0.74127|0.74127	2.284000|2.284000	0.76573|0.76573	0.523000|0.523000	0.50628|0.50628	ATG|TAT		0.378	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		9	25	0	0	0	1	0	9	25				
ACSS3	79611	broad.mit.edu	37	12	81503360	81503360	+	Silent	SNP	C	C	T	rs548439952		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAATGCTTAACATTTGTTACA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0					ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(331-333)aaC>aaT		acyl-CoA synthetase short-chain family member 3							96.0	95.0	96.0					12																	81503360		2203	4299	6502	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503360C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.333C>T	12.37:g.81503360C>T						ACSS3_ENST00000261206.3_Silent_p.N110N|RP11-543H12.1_ENST00000547123.1_RNA	p.N111N			Q9H6R3	ACSS3_HUMAN			2	1243	+			111					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.333C>T	CCDS9022.1																																																																																				0.313	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		16	24	0	0	0	1	0	16	24				
KAT6A	7994	broad.mit.edu	37	8	41798681	41798681	+	Silent	SNP	T	T	C	rs368865750		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr8:41798681T>C	ENST00000396930.3	-	16	3261	c.2718A>G	c.(2716-2718)tcA>tcG	p.S906S	KAT6A_ENST00000265713.2_Silent_p.S906S|KAT6A_ENST00000406337.1_Silent_p.S906S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	906					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGGTGGCTTCTGATTTCTCCC	0.483																																						ENST00000396930.3																			0											c.(2716-2718)tcA>tcG		K(lysine) acetyltransferase 6A		T	,,	0,4406		0,0,2203	77.0	73.0	75.0		2718,2718,2718	-11.1	0.0	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	906/2005,906/2005,906/2005	41798681	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798681T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2718A>G	8.37:g.41798681T>C						KAT6A_ENST00000406337.1_Silent_p.S906S|KAT6A_ENST00000265713.2_Silent_p.S906S	p.S906S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3261	-			906					Q76L81	Silent	SNP	ENST00000396930.3	37	c.2718A>G	CCDS6124.1																																																																																				0.483	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	35	0	0	0	1	0	20	35				
KANSL1L	151050	broad.mit.edu	37	2	211019256	211019256	+	Silent	SNP	A	A	G			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:211019256A>G	ENST00000281772.9	-	2	314	c.51T>C	c.(49-51)tcT>tcC	p.S17S	KANSL1L_ENST00000452086.1_Silent_p.S17S|KANSL1L_ENST00000457374.1_Silent_p.S17S|KANSL1L_ENST00000418791.1_Silent_p.S17S|KANSL1L_ENST00000429908.2_5'UTR	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	17						histone acetyltransferase complex (GO:0000123)											TACTTGGCAAAGATGAAAAGC	0.423																																						ENST00000281772.9																			0											c.(49-51)tcT>tcC		KAT8 regulatory NSL complex subunit 1-like							70.0	69.0	69.0					2																	211019256		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211019256A>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.51T>C	2.37:g.211019256A>G						KANSL1L_ENST00000452086.1_Silent_p.S17S|KANSL1L_ENST00000418791.1_Silent_p.S17S|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.S17S	p.S17S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	314	-			17					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.51T>C	CCDS33370.1																																																																																				0.423	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		5	94	0	0	0	1	0	5	94				
OR2T3	343173	broad.mit.edu	37	1	248637377	248637377	+	Silent	SNP	C	C	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:248637377C>T	ENST00000359594.2	+	1	751	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGAAGGCCTTGGCCACCT	0.567																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(724-726)gcC>gcT		olfactory receptor, family 2, subfamily T, member 3							198.0	166.0	177.0					1																	248637377		2203	4300	6503	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637377C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.726C>T	1.37:g.248637377C>T							p.A242A	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	751	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		242					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.726C>T	CCDS31117.1																																																																																				0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		79	108	0	0	0	1	0	79	108				
ACSL4	2182	broad.mit.edu	37	X	108911384	108911384	+	Missense_Mutation	SNP	T	T	C	rs375864785		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:108911384T>C	ENST00000469796.2	-	11	1780	c.1384A>G	c.(1384-1386)Att>Gtt	p.I462V	ACSL4_ENST00000340800.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	462					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CCCTGGCCAATTGGGCAGCAG	0.498																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1384-1386)Att>Gtt		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)	T	VAL/ILE,VAL/ILE	0,3835		0,0,0,1632,571	153.0	130.0	138.0		1261,1384	-6.7	0.0	X		138	1,6727		0,0,1,2428,1871	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	29,29	0,0,1,4060,2442	CC,CT,C,TT,T		0.0149,0.0,0.0095	benign,benign	421/671,462/712	108911384	1,10562	2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108911384T>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1384A>G	X.37:g.108911384T>C	ENSP00000419171:p.Ile462Val					ACSL4_ENST00000469796.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V	p.I462V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			12	1888	-			462					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1384A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.332779	0.01298	0.0	1.49E-4	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.42131	0.98;0.98;0.98	5.65	-6.68	0.01778	AMP-dependent synthetase/ligase (1);	0.379179	0.28921	N	0.013704	T	0.17066	0.0410	N	0.05554	-0.025	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.02654	T	1	-1.6262	18.3403	0.90303	0.0:0.7861:0.0:0.2139	.	462	O60488	ACSL4_HUMAN	V	421;462;462	ENSP00000262835:I421V;ENSP00000419171:I462V;ENSP00000339787:I462V	ENSP00000339787:I462V	I	-	1	0	ACSL4	108798040	0.672000	0.27530	0.000000	0.03702	0.412000	0.31113	1.339000	0.33885	-1.772000	0.01292	-1.276000	0.01395	ATT		0.498	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		5	104	0	0	0	1	0	5	104				
OR5AC2	81050	broad.mit.edu	37	3	97806631	97806631	+	Silent	SNP	T	T	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:97806631T>A	ENST00000358642.2	+	1	615	c.615T>A	c.(613-615)ggT>ggA	p.G205G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	205					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATTTTTGGTGCTTTTATAC	0.299																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(613-615)ggT>ggA		olfactory receptor, family 5, subfamily AC, member 2							39.0	41.0	41.0					3																	97806631		2203	4299	6502	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806631T>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.615T>A	3.37:g.97806631T>A							p.G205G	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	615	+			205						Silent	SNP	ENST00000358642.2	37	c.615T>A	CCDS33796.1																																																																																				0.299	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			17	19	0	0	0	1	0	17	19				
MRGPRX3	117195	broad.mit.edu	37	11	18158872	18158872	+	Silent	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:18158872G>A	ENST00000396275.2	+	3	484	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCTTGTCGCGCTGACAGGAA	0.592																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(121-123)gcG>gcA		MAS-related GPR, member X3							138.0	134.0	135.0					11																	18158872		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158872G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.123G>A	11.37:g.18158872G>A							p.A41A	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	484	+			41					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.123G>A	CCDS7830.1																																																																																				0.592	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		4	110	0	0	0	1	0	4	110				
CLIP1	6249	broad.mit.edu	37	12	122812878	122812878	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:122812878T>C	ENST00000540338.1	-	15	3004	c.2963A>G	c.(2962-2964)cAg>cGg	p.Q988R	CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000358808.2_Missense_Mutation_p.Q977R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	988					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCTGGCTCTGTTCAGCTTT	0.403																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2929-2931)cAg>cGg		CAP-GLY domain containing linker protein 1							208.0	204.0	205.0					12																	122812878		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812878T>C		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2963A>G	12.37:g.122812878T>C	ENSP00000439093:p.Gln988Arg					CLIP1_ENST00000540338.1_Missense_Mutation_p.Q988R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R|CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R	p.Q977R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	15	3084	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		988					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.2930A>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	9.341	1.063019	0.19987	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.78003	2.71;-1.14;-1.14;0.68;0.63	5.25	4.09	0.47781	.	0.269478	0.37577	N	0.002037	T	0.66781	0.2824	L	0.37897	1.145	0.32069	N	0.594726	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.17979	0.009;0.02;0.006	T	0.63189	-0.6693	10	0.18276	T	0.48	-5.3372	11.8519	0.52415	0.0:0.0:0.1465:0.8535	.	942;977;988	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	R	563;977;977;707;19;942;988	ENSP00000438743:Q563R;ENSP00000303585:Q977R;ENSP00000351665:Q977R;ENSP00000445531:Q942R;ENSP00000439093:Q988R	ENSP00000303585:Q977R	Q	-	2	0	CLIP1	121378831	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	2.710000	0.47169	0.915000	0.36847	0.459000	0.35465	CAG		0.403	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		106	143	0	0	0	1	0	106	143				
TBC1D22A	25771	broad.mit.edu	37	22	47287286	47287286	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:47287286G>A	ENST00000337137.4	+	6	999	c.833G>A	c.(832-834)aGg>aAg	p.R278K	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	278	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACACATACAGGCAGGTGGGA	0.403																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(832-834)aGg>aAg		TBC1 domain family, member 22A							96.0	99.0	98.0					22																	47287286		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47287286G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.833G>A	22.37:g.47287286G>A	ENSP00000336724:p.Arg278Lys					TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K	p.R278K	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	6	999	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	278			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.833G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437187	0.62955	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	4.36	4.36	0.52297	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.68593	2.085	0.80722	D	1	B;D;D;B	0.59357	0.06;0.985;0.968;0.06	B;D;D;B	0.64595	0.121;0.922;0.927;0.121	T	0.01074	-1.1460	10	0.33141	T	0.24	.	14.437	0.67287	0.0:0.0:1.0:0.0	.	278;200;219;278	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	K	278;231;219;200;231	ENSP00000336724:R278K;ENSP00000370383:R231K;ENSP00000384036:R219K;ENSP00000347932:R200K;ENSP00000385634:R231K	ENSP00000336724:R278K	R	+	2	0	TBC1D22A	45665950	1.000000	0.71417	0.219000	0.23793	0.206000	0.24218	8.166000	0.89665	2.248000	0.74166	0.557000	0.71058	AGG		0.403	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		4	90	0	0	0	1	0	4	90				
UGT2B17	7367	broad.mit.edu	37	4	69433683	69433683	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr4:69433683G>A	ENST00000317746.2	-	1	562	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	174					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ACAGAGAAGCGGAGACTGTAC	0.438																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(520-522)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B17							162.0	156.0	158.0					4																	69433683		2090	3955	6045	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69433683G>A	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.520C>T	4.37:g.69433683G>A	ENSP00000320401:p.Arg174Cys						p.R174C	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			1	562	-			174						Missense_Mutation	SNP	ENST00000317746.2	37	c.520C>T	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	g	12.04	1.817464	0.32145	.	.	ENSG00000197888	ENST00000317746	T	0.64803	-0.12	2.66	2.66	0.31614	.	0.000000	0.64402	U	0.000011	T	0.75148	0.3810	M	0.90309	3.105	0.34313	D	0.685627	.	.	.	.	.	.	T	0.82309	-0.0521	8	0.72032	D	0.01	.	6.9257	0.24414	0.0:0.0:0.726:0.274	.	.	.	.	C	174	ENSP00000320401:R174C	ENSP00000320401:R174C	R	-	1	0	UGT2B17	69116278	0.988000	0.35896	0.006000	0.13384	0.010000	0.07245	2.813000	0.48002	1.516000	0.48900	0.499000	0.49734	CGC		0.438	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		10	180	0	0	0	1	0	10	180				
PTGFRN	5738	broad.mit.edu	37	1	117487361	117487361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:117487361delG	ENST00000393203.2	+	3	626	c.479delG	c.(478-480)cggfs	p.R160fs		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	160	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGAGCCTGCGGGAGGGGGAG	0.751																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(478-480)cgfs		prostaglandin F2 receptor inhibitor							4.0	5.0	5.0					1																	117487361		1469	3326	4795	SO:0001589	frameshift_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487361delG	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.479delG	1.37:g.117487361delG	ENSP00000376899:p.Arg160fs						p.R160fs	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	626	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	160			Ig-like C2-type 2.		Q5VVU9|Q8N2K6	Frame_Shift_Del	DEL	ENST00000393203.2	37	c.479delG	CCDS890.1																																																																																				0.751	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		2	4						2	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589156	67589158	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:67589156_67589158delAAA	ENST00000521381.1	+	10	1760_1762	c.1144_1146delAAA	c.(1144-1146)aaadel	p.K382del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	382	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAAATTAATCAAAATATTTCATC	0.32			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1144-1146)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589156_67589158delAAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1144_1146delAAA	5.37:g.67589156_67589158delAAA	ENSP00000428056:p.Lys382del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del	p.K382del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1760_1762	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	382			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1144_1146delAAA	CCDS3993.1																																																																																				0.320	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		32	84						32	84	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		2	4						2	4	---	---	---	---
TRAV12-2	28673	broad.mit.edu	37	14	22356275	22356276	+	RNA	INS	-	-	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr14:22356275_22356276insT	ENST00000390437.2	+	0	154									T cell receptor alpha variable 12-2																		TAGAAGCATGATTTTTTTTCTA	0.396																																						ENST00000390437.2																			0																																																			0							g.chr14:22356275_22356276insT	AE000659		14q11.2	2012-02-07			ENSG00000211789	ENSG00000211789		"""T cell receptors / TRA locus"""	12106	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168994		14.37:g.22356283_22356283dupT														0	154	+									RNA	INS	ENST00000390437.2	37																																																																																						0.396	TRAV12-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401892.1	NG_001332		5	8						5	8	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85682289_85682290insC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.366dupC	16.37:g.85682297_85682297dupC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs	p.P120fs	NM_014615.2	NP_055430.1					3	534_535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.358_359insC	CCDS10952.1																																																																																				0.688	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	79						8	79	---	---	---	---
TGIF1	7050	broad.mit.edu	37	18	3452222	3452223	+	Frame_Shift_Del	DEL	CT	CT	-	rs11571510|rs557543525|rs559432063|rs202189171	byFrequency	TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr18:3452222_3452223delCT	ENST00000330513.5	+	1	548_549	c.245_246delCT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGCGCCCCCCCTCCTCCACCGG	0.762																																						ENST00000330513.5																			1	Deletion - Frameshift(1)	p.P83fs*51(1)	large_intestine(1)	cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(244-246)cfs		TGFB-induced factor homeobox 1			,,,,,,	1145,3085		260,625,1230					,,,,,,	-2.3	0.0		dbSNP_120	14	2890,5274		725,1440,1917	no	intron,intron,intron,intron,intron,frameshift,intron	TGIF1	NM_174886.1,NM_173210.1,NM_173209.1,NM_173208.1,NM_173207.1,NM_170695.2,NM_003244.2	,,,,,,	985,2065,3147	A1A1,A1R,RR		35.3993,27.0686,32.5561	,,,,,,	,,,,,,		4035,8359				SO:0001589	frameshift_variant	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3452222_3452223delCT	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.245_246delCT	18.37:g.3452222_3452223delCT	ENSP00000327959:p.Pro85fs					TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000343820.5_Intron	p.P85fs	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN			1	548_549	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	85					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	c.245_246delCT	CCDS11834.1																																																																																				0.762	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		6	13						6	13	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35659135	35659136	+	Frame_Shift_Ins	INS	-	-	A	rs79846609		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:35659135_35659136insA	ENST00000216106.5	+	3	224_225	c.96_97insA	c.(97-99)aaafs	p.K33fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	33					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCAACGAGAGAAAAAACGTTC	0.401																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(94-99)gaaaaafs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35659135_35659136insA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.102dupA	22.37:g.35659141_35659141dupA	ENSP00000216106:p.Lys33fs					HMGXB4_ENST00000444518.2_5'UTR	p.EK32fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			3	224_225	+			32					O75672|O75673|Q9UMT5	Frame_Shift_Ins	INS	ENST00000216106.5	37	c.96_97insA	CCDS33641.1																																																																																				0.401	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		14	50						14	50	---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257114	41257115	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:41257114_41257115insT	ENST00000307221.4	-	1	1015_1016	c.884_885insA	c.(883-885)aagfs	p.K295fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	295	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTACGCTTCTTTTTTTTCCT	0.381																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(883-885)aaafs		DnaJ (Hsp40) homolog, subfamily B, member 7																																				SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257114_41257115insT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.885dupA	22.37:g.41257122_41257122dupT	ENSP00000307197:p.Lys295fs					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	p.K295fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	1015_1016	-			295			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Ins	INS	ENST00000307221.4	37	c.884_885insA	CCDS14008.1																																																																																				0.381	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		29	85						29	85	---	---	---	---
