#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
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:22186712C>T	ENST00000374695.3	-	40	5051	c.4972G>A	c.(4972-4974)Gtg>Atg	p.V1658M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17245	0.0		0.0	False		,,,				2504	0.0					uc001bfj.2																			0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(4972-4974)GTG>ATG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	C	MET/VAL	8,4398	14.3+/-33.2	0,8,2195	37.0	35.0	36.0		4972	2.6	0.9	1	dbSNP_134	36	0,8600		0,0,4300	yes	missense	HSPG2	NM_005529.5	21	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging	1658/4392	22186712	8,12998	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22186712C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4972G>A	1.37:g.22186712C>T	ENSP00000363827:p.Val1658Met					HSPG2_uc009vqd.2_Missense_Mutation_p.V1659M	p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	40	5012	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1658			Laminin EGF-like 11.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4972G>A	CCDS30625.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.39	3.108568	0.56291	0.001816	0.0	ENSG00000142798	ENST00000374695	T	0.62498	0.02	4.49	2.58	0.30949	EGF-like, laminin (4);	0.626450	0.12358	U	0.475905	T	0.58250	0.2109	L	0.38838	1.175	0.22675	N	0.998866	D	0.54772	0.968	P	0.52189	0.692	T	0.45659	-0.9246	10	0.48119	T	0.1	.	6.5211	0.22275	0.0:0.7:0.0:0.3	.	1658	P98160	PGBM_HUMAN	M	1658	ENSP00000363827:V1658M	ENSP00000363827:V1658M	V	-	1	0	HSPG2	22059299	0.254000	0.23992	0.894000	0.35097	0.988000	0.76386	0.770000	0.26618	1.101000	0.41535	0.591000	0.81541	GTG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
NCMAP	400746	broad.mit.edu	37	1	24927454	24927454	+	Missense_Mutation	SNP	G	G	A	rs142867139	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:24927454G>A	ENST00000374392.2	+	3	172	c.106G>A	c.(106-108)Gtt>Att	p.V36I	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	36	Poly-Val.				peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										TGTTGCTGCCGTTGTGGTGGT	0.552													G|||	2	0.000399361	0.0	0.0029	5008	,	,		21312	0.0		0.0	False		,,,				2504	0.0					uc001bjk.1																			0					0						c.(106-108)GTT>ATT		chromosome 1 open reading frame 130		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	263.0	206.0	225.0		106	-0.6	1.0	1	dbSNP_134	225	13,8587	10.5+/-38.8	0,13,4287	yes	missense	C1orf130	NM_001010980.4	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	36/103	24927454	17,12989	2203	4300	6503	SO:0001583	missense	400746					integral to membrane		g.chr1:24927454G>A	AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"""myelin protein of 11 kDa"""		"""chromosome 1 open reading frame 130"""	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.106G>A	1.37:g.24927454G>A	ENSP00000363513:p.Val36Ile						p.V36I	NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)	3	172	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)	36			Poly-Val.|Helical; (Potential).		A0PK04|B2RV34	Missense_Mutation	SNP	ENST00000374392.2	37	c.106G>A	CCDS30632.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	2.468	-0.322616	0.05350	9.08E-4	0.001512	ENSG00000184454	ENST00000374392	.	.	.	5.64	-0.586	0.11694	.	0.311073	0.32769	N	0.005679	T	0.11281	0.0275	N	0.03050	-0.425	0.21740	N	0.999565	B	0.02656	0.0	B	0.04013	0.001	T	0.36768	-0.9734	9	0.02654	T	1	-10.3115	9.7844	0.40666	0.5958:0.0:0.4042:0.0	.	36	Q5T1S8	CA130_HUMAN	I	36	.	ENSP00000363513:V36I	V	+	1	0	C1orf130	24800041	0.947000	0.32204	0.990000	0.47175	0.622000	0.37654	0.138000	0.16016	-0.050000	0.13356	-0.469000	0.05056	GTT		0.552	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2	NM_001010980	
TTC39A	22996	broad.mit.edu	37	1	51768762	51768762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:51768762C>T	ENST00000447632.2	-	9	913	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TTC39A_ENST00000262676.5_Missense_Mutation_p.V285M|TTC39A_ENST00000262675.7_Missense_Mutation_p.V226M|TTC39A_ENST00000451380.1_Missense_Mutation_p.V253M|TTC39A_ENST00000413473.2_Missense_Mutation_p.V257M|TTC39A_ENST00000371747.3_Missense_Mutation_p.V288M|TTC39A_ENST00000371750.5_Missense_Mutation_p.V254M			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	289								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTACCGAGCACGAAGGTGAGG	0.627																																						uc001csl.2																			2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(865-867)GTG>ATG		tetratricopeptide repeat domain 39A isoform 2							22.0	27.0	25.0					1																	51768762		2066	4214	6280	SO:0001583	missense	22996						binding	g.chr1:51768762C>T	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.865G>A	1.37:g.51768762C>T	ENSP00000393952:p.Val289Met					TTC39A_uc001csk.2_Missense_Mutation_p.V254M|TTC39A_uc010ond.1_Missense_Mutation_p.V226M|TTC39A_uc010one.1_Missense_Mutation_p.V253M|TTC39A_uc010onf.1_Missense_Mutation_p.V257M|TTC39A_uc001csn.2_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	p.V289M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			9	970	-			289					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	C	16.75	3.208239	0.58343	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.15	4.17	0.49024	.	0.123818	0.53938	D	0.000044	T	0.55033	0.1895	L	0.37850	1.14	0.47949	D	0.999551	B;B;D;D;D;P;D	0.76494	0.358;0.41;0.983;0.999;0.983;0.665;0.978	B;B;P;D;P;B;P	0.65573	0.203;0.305;0.843;0.936;0.843;0.225;0.757	T	0.49204	-0.8964	10	0.32370	T	0.25	-24.454	14.5346	0.67950	0.0:0.853:0.147:0.0	.	257;253;226;285;253;289;254	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	M	289;257;226;253;254;288;285;226;253;226	ENSP00000393952:V289M;ENSP00000406144:V257M;ENSP00000262675:V226M;ENSP00000397207:V253M;ENSP00000360815:V254M;ENSP00000360812:V288M;ENSP00000262676:V285M;ENSP00000408532:V226M;ENSP00000405803:V253M;ENSP00000388995:V226M	ENSP00000262675:V226M	V	-	1	0	TTC39A	51541350	0.999000	0.42202	0.990000	0.47175	0.933000	0.57130	3.719000	0.54926	2.584000	0.87258	0.561000	0.74099	GTG		0.627	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		
DMRTB1	63948	broad.mit.edu	37	1	53932300	53932300	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:53932300C>G	ENST00000371445.3	+	4	1049	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	332					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTCGGGTGAGCCCAGCCAGCC	0.552																																						uc001cvq.1																			0				ovary(1)|skin(1)	2						c.(994-996)CCC>GCC		DMRT-like family B with proline-rich C-terminal,							146.0	158.0	154.0					1																	53932300		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53932300C>G	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.994C>G	1.37:g.53932300C>G	ENSP00000360500:p.Pro332Ala						p.P332A	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			4	1049	+			332					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.994C>G	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246128	0.39697	.	.	ENSG00000143006	ENST00000371445	T	0.28069	1.63	4.73	3.7	0.42460	.	0.772604	0.11664	N	0.541553	T	0.29524	0.0736	M	0.67953	2.075	0.30580	N	0.762649	P	0.48834	0.916	B	0.38842	0.283	T	0.27673	-1.0067	10	0.37606	T	0.19	-13.7722	8.6534	0.34049	0.0:0.8846:0.0:0.1154	.	332	Q96MA1	DMRTB_HUMAN	A	332	ENSP00000360500:P332A	ENSP00000360500:P332A	P	+	1	0	DMRTB1	53704888	0.978000	0.34361	0.996000	0.52242	0.875000	0.50365	-0.127000	0.10547	1.194000	0.43101	0.561000	0.74099	CCC		0.552	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
SRSF11	9295	broad.mit.edu	37	1	70703140	70703140	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:70703140C>G	ENST00000370950.3	+	7	705	c.623C>G	c.(622-624)cCa>cGa	p.P208R	SRSF11_ENST00000405432.1_Missense_Mutation_p.P208R|SRSF11_ENST00000370949.1_Missense_Mutation_p.P148R|SRSF11_ENST00000370951.1_Missense_Mutation_p.P208R|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	208					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						CTCGTTTCACCAAGTCTGAAA	0.378																																						uc001des.2																			0					0						c.(622-624)CCA>CGA		splicing factor, arginine/serine-rich 11							105.0	103.0	104.0					1																	70703140		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70703140C>G	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.623C>G	1.37:g.70703140C>G	ENSP00000359988:p.Pro208Arg					SFRS11_uc001det.2_Missense_Mutation_p.P208R|SFRS11_uc001deu.2_Missense_Mutation_p.P208R|SFRS11_uc001dev.2_Missense_Mutation_p.P18R|SFRS11_uc001dew.2_Missense_Mutation_p.P148R	p.P208R	NM_004768	NP_004759	Q05519	SRS11_HUMAN			7	747	+			208					Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.623C>G	CCDS647.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523310	0.64747	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T	0.83591	-1.74;-1.74;-1.74;2.22	5.61	5.61	0.85477	.	0.096864	0.64402	D	0.000001	D	0.87928	0.6301	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.60575	0.982;0.988;0.988;0.988	P;P;P;P	0.57911	0.829;0.758;0.758;0.758	D	0.88748	0.3248	10	0.87932	D	0	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	148;208;208;208	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	R	208;208;208;208;148	ENSP00000359989:P208R;ENSP00000359988:P208R;ENSP00000384357:P208R;ENSP00000359987:P148R	ENSP00000359987:P148R	P	+	2	0	SRSF11	70475728	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.857000	0.62939	2.631000	0.89168	0.655000	0.94253	CCA		0.378	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	
S100A7A	338324	broad.mit.edu	37	1	153391728	153391728	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:153391728C>T	ENST00000368729.4	+	3	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A	S100A7A_ENST00000368728.2_Silent_p.A83A|S100A7A_ENST00000329256.2_Silent_p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A83A(2)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522																																						uc001fbt.1																			2	Substitution - coding silent(2)		prostate(1)|endometrium(1)	skin(1)	1						c.(247-249)GCC>GCT		S100 calcium binding protein A7-like 1							84.0	79.0	81.0					1																	153391728		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391728C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.249C>T	1.37:g.153391728C>T							p.A83A	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	306	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		83			EF-hand 2.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.249C>T	CCDS30872.1																																																																																				0.522	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	
FDPS	2224	broad.mit.edu	37	1	155287783	155287783	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:155287783C>T	ENST00000356657.6	+	5	694	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.R178C|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.R112C|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	178					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATCCCTTACCCGCCGGGGACA	0.512																																						uc001fkc.2																			0					0						c.(532-534)CGC>TGC		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						86.0	79.0	81.0					1																	155287783		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155287783C>T	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.532C>T	1.37:g.155287783C>T	ENSP00000349078:p.Arg178Cys					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|FDPS_uc001fkf.2_Missense_Mutation_p.R112C|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	p.R178C	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		5	751	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		178				Dimethylallyl diphosphate.	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.532C>T	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612237	0.46631	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	D;D;D	0.89196	-2.48;-2.48;-2.48	3.62	3.62	0.41486	Terpenoid synthase (2);	0.000000	0.36444	N	0.002592	D	0.91737	0.7387	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.92422	0.5946	10	0.87932	D	0	-0.6534	13.2354	0.59967	0.0:1.0:0.0:0.0	.	178	P14324	FPPS_HUMAN	C	112;178;178	ENSP00000391755:R112C;ENSP00000357340:R178C;ENSP00000349078:R178C	ENSP00000349078:R178C	R	+	1	0	FDPS	153554407	0.998000	0.40836	1.000000	0.80357	0.359000	0.29487	3.567000	0.53813	2.331000	0.79229	0.467000	0.42956	CGC		0.512	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004	
ADCY10	55811	broad.mit.edu	37	1	167806486	167806486	+	Splice_Site	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:167806486C>T	ENST00000367851.4	-	22	3262		c.e22+1		ADCY10_ENST00000367848.1_Splice_Site|ADCY10_ENST00000545172.1_Splice_Site	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TATGCCTCTACCTGCGATTTT	0.348																																						uc001ger.2																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(2)|ovary(1)	3						c.e22+1		adenylate cyclase 10							97.0	99.0	98.0					1																	167806486		2203	4300	6503	SO:0001630	splice_region_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167806486C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3077+1G>A	1.37:g.167806486C>T						ADCY10_uc009wvk.2_Splice_Site_p.S934_splice|ADCY10_uc010plj.1_Splice_Site_p.S873_splice	p.S1026_splice	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			22	3375	-								B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Splice_Site	SNP	ENST00000367851.4	37	c.3077_splice	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166816	0.21621	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6692	0.62414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY10	166073110	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	3.017000	0.49615	2.677000	0.91161	0.563000	0.77884	.		0.348	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	Intron
TMEM63A	9725	broad.mit.edu	37	1	226040425	226040425	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:226040425G>A	ENST00000366835.3	-	20	2113	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	615					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AAGACACACAGCATCCATGCA	0.552																																						uc001hpm.1																			0				ovary(1)|breast(1)	2						c.(1843-1845)CTG>TTG		transmembrane protein 63A							198.0	123.0	148.0					1																	226040425		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226040425G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1843C>T	1.37:g.226040425G>A							p.L615L	NM_014698	NP_055513	O94886	TM63A_HUMAN			20	2093	-	Breast(184;0.197)		615			Helical; (Potential).		Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1843C>T	CCDS31042.1																																																																																				0.552	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
OR52M1	119772	broad.mit.edu	37	11	4566682	4566682	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:4566682T>C	ENST00000360213.1	+	1	262	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAATCTTCTGGTTCGGTGC	0.517																																						uc010qyf.1																			0					0						c.(262-264)TGG>CGG		olfactory receptor, family 52, subfamily M,							155.0	146.0	149.0					11																	4566682		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566682T>C	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.262T>C	11.37:g.4566682T>C	ENSP00000353343:p.Trp88Arg						p.W88R	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	262	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	88			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.262T>C	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955523	0.53293	.	.	ENSG00000197790	ENST00000360213	T	0.00873	5.59	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000459	T	0.07593	0.0191	M	0.91459	3.21	0.31874	N	0.619313	D	0.89917	1.0	D	0.91635	0.999	T	0.01416	-1.1360	10	0.87932	D	0	.	13.6437	0.62267	0.0:0.0:0.0:1.0	.	88	Q8NGK5	O52M1_HUMAN	R	88	ENSP00000353343:W88R	ENSP00000353343:W88R	W	+	1	0	OR52M1	4523258	0.858000	0.29795	1.000000	0.80357	0.986000	0.74619	1.809000	0.38922	2.149000	0.67028	0.533000	0.62120	TGG		0.517	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137	
OR56A3	390083	broad.mit.edu	37	11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:5968802G>A	ENST00000329564.6	+	1	233	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587																																						uc010qzt.1																			0					0						c.(226-228)GTG>ATG		olfactory receptor, family 56, subfamily A,							145.0	139.0	141.0					11																	5968802		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968802G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.226G>A	11.37:g.5968802G>A	ENSP00000331572:p.Val76Met						p.V76M	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	226	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	76			Helical; Name=2; (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.226G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.217055	0.22373	.	.	ENSG00000184478	ENST00000329564	T	0.20069	2.1	5.13	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.127003	0.36303	N	0.002680	T	0.14527	0.0351	L	0.33093	0.98	0.19945	N	0.999941	P	0.35714	0.517	B	0.31614	0.133	T	0.11275	-1.0594	10	0.52906	T	0.07	-16.112	10.1103	0.42559	0.1663:0.0:0.8337:0.0	.	76	Q8NH54	O56A3_HUMAN	M	76	ENSP00000331572:V76M	ENSP00000331572:V76M	V	+	1	0	OR56A3	5925378	0.000000	0.05858	0.350000	0.25708	0.778000	0.44026	-0.555000	0.05999	0.734000	0.32515	0.650000	0.86243	GTG		0.587	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR8H2	390151	broad.mit.edu	37	11	55872670	55872670	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:55872670G>A	ENST00000313503.1	+	1	152	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)																												uc010riy.1																			0				ovary(1)|skin(1)	2						c.(151-153)CGC>CAC		olfactory receptor, family 8, subfamily H,							285.0	255.0	265.0					11																	55872670		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872670G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.152G>A	11.37:g.55872670G>A	ENSP00000323982:p.Arg51His	HNSCC(53;0.14)					p.R51H	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	152	+	Esophageal squamous(21;0.00693)		51			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.152G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.739405	0.00681	.	.	ENSG00000181767	ENST00000313503	T	0.01076	5.37	3.58	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	0.745590	0.12500	N	0.463420	T	0.00608	0.0020	N	0.20445	0.575	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46978	-0.9152	10	0.15499	T	0.54	.	0.6661	0.00851	0.3664:0.2105:0.2242:0.199	.	51	Q8N162	OR8H2_HUMAN	H	51	ENSP00000323982:R51H	ENSP00000323982:R51H	R	+	2	0	OR8H2	55629246	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.052000	0.00627	-2.361000	0.00609	-1.624000	0.00789	CGC		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
SF3B2	10992	broad.mit.edu	37	11	65830517	65830517	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:65830517A>G	ENST00000322535.6	+	17	2064	c.2015A>G	c.(2014-2016)aAa>aGa	p.K672R	SF3B2_ENST00000528302.1_Missense_Mutation_p.K655R	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	672					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTGGGGCAAACCTCCAGTG	0.498																																						uc001ogy.1																			0				ovary(2)|breast(1)	3						c.(2014-2016)AAA>AGA		splicing factor 3B subunit 2							134.0	119.0	124.0					11																	65830517		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65830517A>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2015A>G	11.37:g.65830517A>G	ENSP00000318861:p.Lys672Arg						p.K672R	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			17	2055	+			672					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2015A>G	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.770246|4.770246	0.90108|0.90108	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.096232|.	0.64402|.	D|.	0.000001|.	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	P|.	0.35226|.	0.491|.	B|.	0.42798|.	0.398|.	T|T	0.75944|0.75944	-0.3139|-0.3139	9|5	0.52906|.	T|.	0.07|.	-12.4785|-12.4785	13.4507|13.4507	0.61169|0.61169	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	672|.	Q13435|.	SF3B2_HUMAN|.	R|D	655;672;576|93	.|.	ENSP00000318861:K672R|.	K|N	+|+	2|1	0|0	SF3B2|SF3B2	65587093|65587093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.344000|8.344000	0.90055|0.90055	2.070000|2.070000	0.61991|0.61991	0.519000|0.519000	0.50382|0.50382	AAA|AAC		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
MMP12	4321	broad.mit.edu	37	11	102743841	102743841	+	RNA	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:102743841C>G	ENST00000532855.1	-	0	200							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTCTAAGTATCTCTGGAAAAA	0.328																																						uc001phk.2																			0					0						c.(103-105)AGA>ACA		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						26.0	26.0	26.0					11																	102743841		1799	4071	5870			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743841C>G	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743841C>G							p.R35T	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	2	149	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	35					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.104G>C																																																																																					0.328	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
LPAR5	57121	broad.mit.edu	37	12	6729589	6729589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:6729589G>A	ENST00000329858.4	-	2	1582	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.R276C	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGCACCCCGCGCACGCGATCG	0.682																																					NSCLC(74;891 2312 37538)	uc009zer.2																			0				ovary(1)|skin(1)	2						c.(826-828)CGC>TGC		lysophosphatidic acid receptor 5							12.0	13.0	13.0					12																	6729589		2188	4273	6461	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729589G>A	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.826C>T	12.37:g.6729589G>A	ENSP00000327875:p.Arg276Cys					LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C	p.R276C	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN			2	1107	-			276			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000329858.4	37	c.826C>T	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849023	0.51270	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.72835	-0.69;-0.69	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.119082	0.35870	N	0.002930	T	0.66896	0.2836	M	0.80982	2.52	0.31805	N	0.62786	P	0.47962	0.903	B	0.35727	0.209	T	0.76558	-0.2915	10	0.38643	T	0.18	.	11.6805	0.51455	0.0814:0.0:0.9186:0.0	.	276	Q9H1C0	LPAR5_HUMAN	C	276	ENSP00000327875:R276C;ENSP00000393098:R276C	ENSP00000327875:R276C	R	-	1	0	LPAR5	6599850	1.000000	0.71417	0.996000	0.52242	0.375000	0.29983	4.607000	0.61133	2.536000	0.85505	0.491000	0.48974	CGC		0.682	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400	
PDE3A	5139	broad.mit.edu	37	12	20807040	20807040	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:20807040G>A	ENST00000359062.3	+	15	3125	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1029	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATGGGTGGAAGACAGCGATGA	0.478																																						uc001reh.1																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3085-3087)GAC>AAC		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						128.0	124.0	125.0					12																	20807040		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807040G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3085G>A	12.37:g.20807040G>A	ENSP00000351957:p.Asp1029Asn						p.D1029N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3107	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1029			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3085G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507871	0.64410	.	.	ENSG00000172572	ENST00000359062	T	0.74526	-0.85	5.31	5.31	0.75309	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.993239	0.08196	N	0.983134	T	0.76630	0.4014	L	0.54323	1.7	0.36564	D	0.872584	P	0.41475	0.751	B	0.40165	0.321	T	0.78272	-0.2268	10	0.87932	D	0	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	1029	Q14432	PDE3A_HUMAN	N	1029	ENSP00000351957:D1029N	ENSP00000351957:D1029N	D	+	1	0	PDE3A	20698307	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.040000	0.76551	2.657000	0.90304	0.655000	0.94253	GAC		0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
KRT81	3887	broad.mit.edu	37	12	52685111	52685112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:52685111_52685112insG	ENST00000327741.5	-	1	206_207	c.138_139insC	c.(136-141)ggcagcfs	p.S47fs	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	47	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGCTGTGGCTGCCGAAGCCCC	0.748																																						uc001sab.2																			0					0						c.(136-141)GGCAGCfs		keratin, hair, basic, 1				89,1445		25,39,703						5.2	1.0			4	291,4093		74,143,1975	no	frameshift	KRT81	NM_002281.3		99,182,2678	A1A1,A1R,RR		6.6378,5.8018,6.4211				380,5538				SO:0001589	frameshift_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685111_52685112insG	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.139dupC	12.37:g.52685112_52685112dupG	ENSP00000369349:p.Ser47fs					KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	p.G46fs	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	188_189	-			46_47			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Frame_Shift_Ins	INS	ENST00000327741.5	37	c.138_139insC	CCDS31805.1																																																																																				0.748	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
NOC4L	79050	broad.mit.edu	37	12	132635897	132635897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:132635897C>T	ENST00000330579.1	+	11	1098	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	353					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGGCTGACCTCTTCCTGTC	0.652																																						uc001ujz.1																			0					0						c.(1057-1059)CTC>TTC		nucleolar complex associated 4 homolog							98.0	103.0	101.0					12																	132635897		2202	4299	6501	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132635897C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1057C>T	12.37:g.132635897C>T	ENSP00000328854:p.Leu353Phe						p.L353F	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	11	1098	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		353			Helical; (Potential).		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1057C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280940	0.40394	.	.	ENSG00000184967	ENST00000330579	T	0.65178	-0.14	5.2	2.28	0.28536	CCAAT-binding factor (1);	0.161178	0.41294	D	0.000909	T	0.75406	0.3845	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.74711	-0.3573	10	0.72032	D	0.01	-26.7259	7.3779	0.26839	0.0:0.5888:0.2732:0.1381	.	353	Q9BVI4	NOC4L_HUMAN	F	353	ENSP00000328854:L353F	ENSP00000328854:L353F	L	+	1	0	NOC4L	131201850	0.843000	0.29541	0.751000	0.31187	0.109000	0.19521	0.647000	0.24812	0.547000	0.28938	0.561000	0.74099	CTC		0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078	
PCCA	5095	broad.mit.edu	37	13	100809554	100809554	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr13:100809554A>G	ENST00000376285.1	+	6	466	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	PCCA_ENST00000376279.3_Missense_Mutation_p.Y143C|PCCA_ENST00000376286.4_Missense_Mutation_p.Y117C|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	143	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCCAGGTTATGGATTCCTT	0.318																																						uc001voo.2																			0				skin(2)	2						c.(427-429)TAT>TGT		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						103.0	101.0	102.0					13																	100809554		2203	4299	6502	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100809554A>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.428A>G	13.37:g.100809554A>G	ENSP00000365462:p.Tyr143Cys					PCCA_uc010aga.2_Missense_Mutation_p.Y117C|PCCA_uc010tiz.1_Missense_Mutation_p.Y143C	p.Y143C	NM_000282	NP_000273	P05165	PCCA_HUMAN			6	466	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		143			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.428A>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063124	0.76187	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.95412	-3.7;-3.7;-3.7	5.0	5.0	0.66597	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.994;0.981;0.999	D	0.99246	1.0886	10	0.72032	D	0.01	.	14.6781	0.68996	1.0:0.0:0.0:0.0	.	143;117;143	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	C	117;143;143	ENSP00000365463:Y117C;ENSP00000365456:Y143C;ENSP00000365462:Y143C	ENSP00000365456:Y143C	Y	+	2	0	PCCA	99607555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.006000	0.58801	0.459000	0.35465	TAT		0.318	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
NPAS3	64067	broad.mit.edu	37	14	34270129	34270129	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr14:34270129C>T	ENST00000356141.4	+	12	2616	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	NPAS3_ENST00000346562.2_Silent_p.L840L|NPAS3_ENST00000548645.1_Silent_p.L842L|NPAS3_ENST00000357798.5_Silent_p.L859L|NPAS3_ENST00000551492.1_Silent_p.L877L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	872					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAGATGCTCTACCACCACG	0.637																																						uc001wru.2																			0				ovary(1)|skin(1)	2						c.(2614-2616)CTC>CTT		neuronal PAS domain protein 3 isoform 3							46.0	29.0	34.0					14																	34270129		2202	4300	6502	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270129C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2616C>T	14.37:g.34270129C>T						NPAS3_uc001wrs.2_Silent_p.L859L|NPAS3_uc001wrt.2_Silent_p.L840L|NPAS3_uc001wrv.2_Silent_p.L842L	p.L872L	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	2680	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		872					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2616C>T	CCDS53891.1																																																																																				0.637	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																						uc010uny.1																			4	Substitution - Missense(4)		kidney(4)		0						c.(415-417)GAG>CAG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001583	missense	647042							g.chr15:83014132C>G																												ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln					GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank	p.E139Q	NM_198181	NP_937824	A6NI86	GG6LA_HUMAN			6	513	-			151						Missense_Mutation	SNP	ENST00000557886.1	37	c.415G>C																																																																																					0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572																																						uc002dmf.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(412-414)GCG>ACG		voltage-dependent calcium channel gamma-3							58.0	53.0	55.0					16																	24366270		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366270G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.412G>A	16.37:g.24366270G>A	ENSP00000005284:p.Ala138Thr						p.A138T	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1612	+			138			Helical; (Potential).			Missense_Mutation	SNP	ENST00000005284.3	37	c.412G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763234	0.96906	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.41	5.41	0.78517	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.80722	D	1	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.9864	0.92771	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.961000	0.93122	2.815000	0.96918	0.561000	0.74099	GCG		0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
RP11-64J4.2	0	broad.mit.edu	37	17	3214528	3214528	+	RNA	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:3214528C>T	ENST00000573491.1	-	0	359																											ACTGTTCCTCCGATGCTGGCG	0.582																																						uc002fvi.2																			0				ovary(1)	1						c.(922-924)TCC>TCT		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							184.0	151.0	162.0					17																	3214528		2203	4300	6503			390756							g.chr17:3214528C>T																													17.37:g.3214528C>T							p.S308S	NR_024128						1	990	+									Silent	SNP	ENST00000573491.1	37	c.924C>T																																																																																					0.582	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
GJC1	10052	broad.mit.edu	37	17	42882694	42882694	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:42882694G>A	ENST00000426548.1	-	3	761	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_ENST00000590758.1_Silent_p.G164G|GJC1_ENST00000592524.1_Silent_p.G164G|GJC1_ENST00000330514.4_Silent_p.G164G	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	164					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468																																						uc002ihj.2																			0					0						c.(490-492)GGC>GGT		connexin 45							201.0	181.0	188.0					17																	42882694		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882694G>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.492C>T	17.37:g.42882694G>A						GJC1_uc002ihk.2_Silent_p.G164G|GJC1_uc002ihl.2_Silent_p.G164G|GJC1_uc010czx.2_Silent_p.G164G|GJC1_uc010czy.1_Silent_p.G25G	p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	1003	-		Prostate(33;0.0959)	164			Cytoplasmic (Potential).		B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.492C>T	CCDS11487.1																																																																																				0.468	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
DLX3	1747	broad.mit.edu	37	17	48072315	48072315	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:48072315G>A	ENST00000434704.2	-	1	273	c.48C>T	c.(46-48)atC>atT	p.I16I	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	16					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGAGCTGGAGATGTCGGTGA	0.642																																						uc002ipy.2																			0					0						c.(46-48)ATC>ATT		distal-less homeobox 3							58.0	54.0	56.0					17																	48072315		2203	4300	6503	SO:0001819	synonymous_variant	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072315G>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.48C>T	17.37:g.48072315G>A							p.I16I	NM_005220	NP_005211	O60479	DLX3_HUMAN			1	274	-			16					B3KQL6	Silent	SNP	ENST00000434704.2	37	c.48C>T	CCDS11556.1																																																																																				0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1		
ABCA6	23460	broad.mit.edu	37	17	67111007	67111007	+	Missense_Mutation	SNP	C	C	T	rs372285217		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:67111007C>T	ENST00000284425.2	-	13	1852	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGAGGACAGACGCCAGTTATC	0.348													c|||	1	0.000199681	0.0	0.0	5008	,	,		16950	0.0		0.0	False		,,,				2504	0.001					uc002jhw.1																			0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1678-1680)GTC>ATC		ATP-binding cassette, sub-family A, member 6		T	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	131.0	119.0	123.0		1678	-5.9	0.0	17		123	0,8600		0,0,4300	no	missense	ABCA6	NM_080284.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	560/1618	67111007	2,13004	2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111007C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1678G>A	17.37:g.67111007C>T	ENSP00000284425:p.Val560Ile					ABCA6_uc002jhx.1_Missense_Mutation_p.V13I	p.V560I	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			13	1853	-	Breast(10;5.65e-12)		560			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1678G>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	c	0.775	-0.764225	0.02996	4.54E-4	0.0	ENSG00000154262	ENST00000284425	D	0.94376	-3.41	4.87	-5.89	0.02282	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.989895	0.08201	N	0.982307	D	0.83524	0.5273	N	0.21194	0.64	0.80722	D	1	B	0.32324	0.364	B	0.31016	0.123	T	0.64943	-0.6288	10	0.18276	T	0.48	.	7.3379	0.26619	0.2139:0.1905:0.0:0.5956	.	560	Q8N139	ABCA6_HUMAN	I	560	ENSP00000284425:V560I	ENSP00000284425:V560I	V	-	1	0	ABCA6	64622602	0.000000	0.05858	0.030000	0.17652	0.120000	0.20174	-1.699000	0.01906	-1.201000	0.02659	-1.112000	0.02068	GTC		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
MC2R	4158	broad.mit.edu	37	18	13885215	13885216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr18:13885215_13885216insG	ENST00000327606.3	-	2	482_483	c.302_303insC	c.(301-303)acafs	p.T101fs		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	101					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTCATCGGCTGTGGTTTCAAA	0.48																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			0				ovary(4)|skin(1)	5						c.(301-303)ACAfs		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)																																			SO:0001589	frameshift_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885215_13885216insG		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.303dupC	18.37:g.13885216_13885216dupG	ENSP00000333821:p.Thr101fs						p.T101fs	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	479_480	-			101			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Frame_Shift_Ins	INS	ENST00000327606.3	37	c.302_303insC	CCDS11869.1																																																																																				0.480	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
MAP1S	55201	broad.mit.edu	37	19	17837113	17837113	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:17837113G>A	ENST00000324096.4	+	5	1071	c.920G>A	c.(919-921)cGc>cAc	p.R307H	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R281H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	307	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTGCTGCGGCGCAAACTGGCG	0.687																																						uc002nhe.1																			0				central_nervous_system(1)	1						c.(919-921)CGC>CAC		BPY2 interacting protein 1							12.0	13.0	12.0					19																	17837113		2194	4287	6481	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837113G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.920G>A	19.37:g.17837113G>A	ENSP00000325313:p.Arg307His					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.R307H|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R281H	p.R307H	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	929	+			307			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.920G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027350	0.93518	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.34667	1.35;1.35	4.26	4.26	0.50523	.	0.000000	0.44285	D	0.000462	T	0.62429	0.2427	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69764	-0.5057	10	0.87932	D	0	-29.3271	14.1491	0.65370	0.0:0.0:1.0:0.0	.	281;307;307	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	H	307;281	ENSP00000325313:R307H;ENSP00000439243:R281H	ENSP00000325313:R307H	R	+	2	0	MAP1S	17698113	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.627000	0.98412	1.908000	0.55244	0.462000	0.41574	CGC		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
TMEM161A	54929	broad.mit.edu	37	19	19243312	19243312	+	Missense_Mutation	SNP	G	G	A	rs201715053		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:19243312G>A	ENST00000162044.9	-	5	356	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Intron|TMEM161A_ENST00000592147.1_5'Flank	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	98					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGAAGAAGCGCAGGACTGTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20532	0.0		0.001	False		,,,				2504	0.0					uc002nlg.2																			0				breast(2)	2						c.(292-294)CGC>TGC		transmembrane protein 161A precursor							101.0	99.0	99.0					19																	19243312		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243312G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.292C>T	19.37:g.19243312G>A	ENSP00000162044:p.Arg98Cys					TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Intron|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_5'UTR	p.R98C	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		5	322	-			98			Extracellular (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.292C>T	CCDS12393.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.55	2.867252	0.51588	.	.	ENSG00000064545	ENST00000162044	.	.	.	3.35	3.35	0.38373	.	0.115587	0.64402	D	0.000013	T	0.59280	0.2182	M	0.72894	2.215	0.80722	D	1	B	0.30482	0.281	B	0.26202	0.067	T	0.67114	-0.5752	9	0.87932	D	0	-4.3667	12.5402	0.56165	0.0:0.0:1.0:0.0	.	98	Q9NX61	T161A_HUMAN	C	98	.	ENSP00000162044:R98C	R	-	1	0	TMEM161A	19104312	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.129000	0.64739	1.884000	0.54569	0.491000	0.48974	CGC		0.582	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814	
ZNF229	7772	broad.mit.edu	37	19	44934110	44934110	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:44934110C>T	ENST00000588931.1	-	6	1279	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_ENST00000291187.4_Silent_p.P276P|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443																																						uc002oze.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(844-846)CCG>CCA		zinc finger protein 229							69.0	66.0	67.0					19																	44934110		1935	4134	6069	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934110C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.846G>A	19.37:g.44934110C>T						ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	p.P282P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1280	-		Prostate(69;0.0352)	282					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.846G>A	CCDS42574.1																																																																																				0.443	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
JOSD2	126119	broad.mit.edu	37	19	51009714	51009714	+	Missense_Mutation	SNP	G	G	A	rs546200445		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:51009714G>A	ENST00000598418.1	-	4	641	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	JOSD2_ENST00000391815.3_Missense_Mutation_p.R130C|JOSD2_ENST00000595669.1_Missense_Mutation_p.R88C|JOSD2_ENST00000601423.1_Missense_Mutation_p.R130C	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	130	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TCCACCTGGCGCAGGGCCACC	0.701													G|||	1	0.000199681	0.0	0.0014	5008	,	,		9599	0.0		0.0	False		,,,				2504	0.0					uc002psn.1																			0					0						c.(388-390)CGC>TGC		Josephin domain containing 2							7.0	9.0	8.0					19																	51009714		2170	4254	6424	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51009714G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.388C>T	19.37:g.51009714G>A	ENSP00000468956:p.Arg130Cys					JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	p.R130C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	4	419	-		all_neural(266;0.131)	130			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.388C>T	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899384	0.52227	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.68331	-0.32	3.21	3.21	0.36854	.	0.000000	0.64402	U	0.000003	D	0.84138	0.5406	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87744	0.2587	10	0.87932	D	0	-14.1513	12.288	0.54803	0.0:0.0:1.0:0.0	.	150;130	Q7Z7N5;Q8TAC2	.;JOS2_HUMAN	C	150;130	ENSP00000375691:R130C	ENSP00000293431:R150C	R	-	1	0	JOSD2	55701526	1.000000	0.71417	0.990000	0.47175	0.002000	0.02628	5.917000	0.69989	1.807000	0.52817	0.491000	0.48974	CGC		0.701	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334	
VIT	5212	broad.mit.edu	37	2	37035618	37035618	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:37035618G>A	ENST00000389975.3	+	14	1650	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	VIT_ENST00000379241.3_Missense_Mutation_p.V428M|VIT_ENST00000401530.1_Missense_Mutation_p.V429M|VIT_ENST00000379242.3_Missense_Mutation_p.V465M|VIT_ENST00000404084.1_Missense_Mutation_p.V402M|VIT_ENST00000497382.1_Missense_Mutation_p.V119M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	450	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTTCTAGGCCGTGTGCAGAAC	0.602																																						uc002rpl.2																			0				ovary(1)|pancreas(1)	2						c.(1393-1395)GTG>ATG		vitrin							30.0	26.0	27.0					2																	37035618		2202	4297	6499	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035618G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1348G>A	2.37:g.37035618G>A	ENSP00000374625:p.Val450Met					VIT_uc002rpm.2_Missense_Mutation_p.V443M|VIT_uc010ezv.2_Missense_Mutation_p.V421M|VIT_uc010ezw.2_Missense_Mutation_p.V422M	p.V465M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			15	1614	+		all_hematologic(82;0.248)	450			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1393G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996992	0.74818	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.55930	0.49;0.49;1.1;0.49;0.49;1.1	5.26	4.39	0.52855	von Willebrand factor, type A (2);	0.057248	0.64402	N	0.000001	T	0.71290	0.3322	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74878	-0.3514	10	0.66056	D	0.02	-8.4043	13.8077	0.63243	0.0736:0.0:0.9264:0.0	.	429;428;450;465	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	M	465;450;119;402;428;429	ENSP00000368544:V465M;ENSP00000374625:V450M;ENSP00000417874:V119M;ENSP00000384154:V402M;ENSP00000368543:V428M;ENSP00000385658:V429M	ENSP00000368543:V428M	V	+	1	0	VIT	36889122	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	9.827000	0.99397	1.228000	0.43614	0.555000	0.69702	GTG		0.602	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
NCKAP5	344148	broad.mit.edu	37	2	133541700	133541700	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:133541700G>A	ENST00000409261.1	-	14	3057	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S895L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	895										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTTGACCGTGACCCTGGAGT	0.607																																						uc002ttp.2																			0					0						c.(2683-2685)TCA>TTA		Nck-associated protein 5 isoform 1							46.0	49.0	48.0					2																	133541700		1969	4145	6114	SO:0001583	missense	344148						protein binding	g.chr2:133541700G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2684C>T	2.37:g.133541700G>A	ENSP00000387128:p.Ser895Leu					NCKAP5_uc002ttq.2_Intron	p.S895L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3058	-			895					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2684C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	2.541	-0.306366	0.05458	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09630	2.96;2.96	4.92	3.1	0.35709	.	0.908121	0.08909	N	0.876146	T	0.06280	0.0162	N	0.11560	0.145	0.32081	N	0.593089	B	0.14438	0.01	B	0.13407	0.009	T	0.34875	-0.9811	10	0.19147	T	0.46	.	9.065	0.36458	0.1715:0.0:0.8285:0.0	.	895	O14513	NCKP5_HUMAN	L	895	ENSP00000387128:S895L;ENSP00000380603:S895L	ENSP00000380603:S895L	S	-	2	0	NCKAP5	133258170	1.000000	0.71417	0.004000	0.12327	0.007000	0.05969	4.935000	0.63498	0.661000	0.30985	0.645000	0.84053	TCA		0.607	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NEB	4703	broad.mit.edu	37	2	152477436	152477436	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:152477436A>G	ENST00000172853.10	-	68	9975	c.9828T>C	c.(9826-9828)agT>agC	p.S3276S	NEB_ENST00000604864.1_Silent_p.S3519S|NEB_ENST00000603639.1_Silent_p.S3519S|NEB_ENST00000427231.2_Silent_p.S3519S|NEB_ENST00000409198.1_Silent_p.S3276S|NEB_ENST00000397345.3_Silent_p.S3519S			P20929	NEBU_HUMAN	nebulin	3276					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTACATCACTGGCAATAT	0.473																																						uc010fnx.2																			0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9826-9828)AGT>AGC		nebulin isoform 3							80.0	81.0	81.0					2																	152477436		1987	4168	6155	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152477436A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9828T>C	2.37:g.152477436A>G							p.S3276S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	68	10019	-			3276			Nebulin 89.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.9828T>C																																																																																					0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GAD1	2571	broad.mit.edu	37	2	171705817	171705817	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:171705817C>T	ENST00000358196.3	+	12	1691	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	381					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AGGTGGGCTGCTCATGTCCAG	0.532																																						uc002ugi.2																			0				ovary(1)	1						c.(1141-1143)CTC>TTC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						76.0	67.0	70.0					2																	171705817		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171705817C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1141C>T	2.37:g.171705817C>T	ENSP00000350928:p.Leu381Phe					GAD1_uc010fqc.2_5'UTR	p.L381F	NM_000817	NP_000808	Q99259	DCE1_HUMAN			12	1563	+			381					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1141C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214556	0.58452	.	.	ENSG00000128683	ENST00000358196	T	0.37411	1.2	5.76	4.9	0.64082	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.057306	0.64402	N	0.000002	T	0.55721	0.1938	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58945	-0.7546	10	0.87932	D	0	-14.6782	11.7542	0.51866	0.0:0.8486:0.0:0.1514	.	381	Q99259	DCE1_HUMAN	F	381	ENSP00000350928:L381F	ENSP00000350928:L381F	L	+	1	0	GAD1	171414063	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.634000	0.54302	1.439000	0.47511	-0.126000	0.14955	CTC		0.532	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
CELSR1	9620	broad.mit.edu	37	22	46793605	46793605	+	Silent	SNP	G	G	A	rs549063106	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr22:46793605G>A	ENST00000262738.3	-	12	5666	c.5667C>T	c.(5665-5667)gaC>gaT	p.D1889D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1889	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCAGGCGTCGTGGCAGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		15301	0.0		0.0	False		,,,				2504	0.002					uc003bhw.1																			0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5665-5667)GAC>GAT		cadherin EGF LAG seven-pass G-type receptor 1							53.0	39.0	44.0					22																	46793605		2201	4296	6497	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793605G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5667C>T	22.37:g.46793605G>A						CELSR1_uc011arc.1_Silent_p.D210D	p.D1889D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5667	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1889			Extracellular (Potential).|EGF-like 5; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.5667C>T	CCDS14076.1																																																																																				0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
DNAH1	25981	broad.mit.edu	37	3	52409985	52409986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:52409985_52409986insA	ENST00000420323.2	+	46	7435_7436	c.7174_7175insA	c.(7174-7176)gaafs	p.E2392fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2392	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCCTTGGAGAAAAAAGCTAC	0.609																																						uc011bef.1																			0				large_intestine(3)	3						c.(7174-7176)GAAfs		dynein, axonemal, heavy chain 1																																				SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52409985_52409986insA	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7180dupA	3.37:g.52409991_52409991dupA	ENSP00000401514:p.Glu2392fs						p.E2392fs	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	46	7435_7436	+			2392			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	ENST00000420323.2	37	c.7174_7175insA	CCDS46842.1																																																																																				0.609	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
CASR	846	broad.mit.edu	37	3	121980782	121980782	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:121980782C>T	ENST00000490131.1	+	4	1272	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CASR_ENST00000296154.5_Silent_p.A300A|CASR_ENST00000498619.1_Silent_p.A300A	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	300					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGCCTGGGCCAGCTCCTCCC	0.602																																						uc003eev.3																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(898-900)GCC>GCT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						59.0	55.0	56.0					3																	121980782		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980782C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.900C>T	3.37:g.121980782C>T						CASR_uc003eew.3_Silent_p.A300A	p.A300A	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1272	+			300			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.900C>T	CCDS3010.1																																																																																				0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
FRYL	285527	broad.mit.edu	37	4	48559631	48559631	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:48559631T>G	ENST00000503238.1	-	31	3963	c.3964A>C	c.(3964-3966)Aaa>Caa	p.K1322Q	FRYL_ENST00000537810.1_Missense_Mutation_p.K1322Q|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K1322Q|FRYL_ENST00000507711.1_Missense_Mutation_p.K1322Q			O94915	FRYL_HUMAN	FRY-like	1322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGAGAGGTTTTAAGTCCACC	0.512																																						uc003gyh.1																			0				skin(1)	1						c.(3964-3966)AAA>CAA		furry-like							176.0	174.0	175.0					4																	48559631		2023	4194	6217	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559631T>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3964A>C	4.37:g.48559631T>G	ENSP00000426064:p.Lys1322Gln					FRYL_uc003gyk.2_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	p.K1322Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			34	4569	-			1322					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3964A>C	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.009|9.009	0.982001|0.982001	0.18812|0.18812	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.45276|.	1.88;1.88;1.88;0.9|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Armadillo-type fold (1);|.	0.089284|0.089284	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.50616|0.50616	0.1626|0.1626	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.37914|.	0.611;0.001;0.0;0.0|.	B;B;B;B|.	0.40444|.	0.329;0.007;0.004;0.007|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|6	0.17832|.	T|.	0.49|.	.|.	16.2874|16.2874	0.82727|0.82727	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1322;153;1322;1322|.	F2Z2S2;Q6ZR29;O94915;F5GX82|.	.;.;FRYL_HUMAN;.|.	Q|T	1322|192	ENSP00000426064:K1322Q;ENSP00000351113:K1322Q;ENSP00000441114:K1322Q;ENSP00000421584:K1322Q|.	ENSP00000351113:K1322Q|.	K|K	-|-	1|2	0|0	FRYL|FRYL	48254388|48254388	1.000000|1.000000	0.71417|0.71417	0.012000|0.012000	0.15200|0.15200	0.003000|0.003000	0.03518|0.03518	5.119000|5.119000	0.64679|0.64679	2.235000|2.235000	0.73313|0.73313	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.512	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
KIT	3815	broad.mit.edu	37	4	55592080	55592080	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:55592080G>A	ENST00000288135.5	+	9	1501	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	468	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P468P(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - coding silent(1)	p.P468P(1)	central_nervous_system(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1402-1404)CCG>CCA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	101.0	104.0					4																	55592080		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55592080G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1404G>A	4.37:g.55592080G>A						KIT_uc010igs.2_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	p.P468P	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	9	1491	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		468			Extracellular (Potential).|Ig-like C2-type 5.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.1404G>A	CCDS3496.1																																																																																				0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
GPR98	84059	broad.mit.edu	37	5	90136528	90136528	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:90136528C>T	ENST00000405460.2	+	78	16841	c.16745C>T	c.(16744-16746)aCg>aTg	p.T5582M	GPR98_ENST00000425867.2_Missense_Mutation_p.T1243M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5582					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCATCCTAACGCCAGAGACA	0.423																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16744-16746)ACG>ATG		G protein-coupled receptor 98 precursor							193.0	187.0	189.0					5																	90136528		1890	4118	6008	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136528C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16745C>T	5.37:g.90136528C>T	ENSP00000384582:p.Thr5582Met					GPR98_uc003kjt.2_Missense_Mutation_p.T3288M|GPR98_uc003kjw.2_Missense_Mutation_p.T1243M	p.T5582M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	16841	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5582			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16745C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017669	0.75161	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27890	1.64;1.64	6.16	5.3	0.74995	.	0.141811	0.64402	N	0.000004	T	0.39036	0.1063	M	0.66939	2.045	0.58432	D	0.999999	P;D;D	0.54772	0.941;0.968;0.965	B;B;P	0.46076	0.306;0.254;0.503	T	0.29671	-1.0004	9	.	.	.	.	15.3585	0.74448	0.0:0.9339:0.0:0.0661	.	1243;5582;1243	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	5582;5582;1243	ENSP00000384582:T5582M;ENSP00000392618:T1243M	.	T	+	2	0	GPR98	90172284	1.000000	0.71417	0.134000	0.22075	0.972000	0.66771	5.240000	0.65378	1.627000	0.50400	0.650000	0.86243	ACG		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
OR2V2	285659	broad.mit.edu	37	5	180582407	180582407	+	Silent	SNP	C	C	T	rs149585637	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:180582407C>T	ENST00000328275.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGATAATCGATGGCTTGA	0.493																																						uc011dhj.1																			0				ovary(1)|central_nervous_system(1)	2						c.(463-465)ATC>ATT		olfactory receptor, family 2, subfamily V,							189.0	181.0	184.0					5																	180582407		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582407C>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.465C>T	5.37:g.180582407C>T							p.I155I	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	465	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	155			Helical; Name=4; (Potential).		Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.465C>T	CCDS4461.1																																																																																				0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1		
TNXB	7148	broad.mit.edu	37	6	32013041	32013041	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:32013041G>T	ENST00000375244.3	-	32	10870	c.10669C>A	c.(10669-10671)Ccc>Acc	p.P3557T	TNXB_ENST00000375247.2_Missense_Mutation_p.P3555T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3602	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTAGGCGGGGCTCTTCAGGA	0.642																																						uc003nzl.2																			0					0						c.(10663-10665)CCC>ACC		tenascin XB isoform 1 precursor							6.0	7.0	7.0					6																	32013041		1420	2549	3969	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32013041G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10669C>A	6.37:g.32013041G>T	ENSP00000364393:p.Pro3557Thr					TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.P24T	p.P3555T	NM_019105	NP_061978	P22105	TENX_HUMAN			32	10865	-			3602			Fibronectin type-III 28.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10663C>A		.	.	.	.	.	.	.	.	.	.	g	19.57	3.852150	0.71719	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59224	0.46;0.28	4.71	4.71	0.59529	.	0.121722	0.37955	N	0.001875	T	0.69797	0.3151	H	0.94345	3.525	0.19775	N	0.99995	D	0.60160	0.987	P	0.55260	0.772	T	0.68002	-0.5524	10	0.66056	D	0.02	.	12.301	0.54874	0.0:0.0:0.8299:0.17	.	3555	P22105-3	.	T	3557;3555	ENSP00000364393:P3557T;ENSP00000364396:P3555T	ENSP00000364393:P3557T	P	-	1	0	TNXB	32121019	0.987000	0.35691	0.165000	0.22776	0.536000	0.34869	3.186000	0.50942	2.456000	0.83038	0.556000	0.70494	CCC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
UTRN	7402	broad.mit.edu	37	6	145115044	145115044	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:145115044A>G	ENST00000367545.3	+	62	8995	c.8995A>G	c.(8995-8997)Atc>Gtc	p.I2999V	UTRN_ENST00000367526.4_Missense_Mutation_p.I554V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2999	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCATGATGCCATCCAGATCCC	0.498																																						uc003qkt.2																			0				ovary(4)|pancreas(1)	5						c.(8995-8997)ATC>GTC		utrophin							107.0	103.0	104.0					6																	145115044		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145115044A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8995A>G	6.37:g.145115044A>G	ENSP00000356515:p.Ile2999Val						p.I2999V	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	62	9087	+		Ovarian(120;0.218)	2999			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8995A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625040	0.46840	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.72051	-0.62;-0.62	5.67	5.67	0.87782	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000051	T	0.67487	0.2898	L	0.31294	0.92	0.41040	D	0.985225	P	0.37985	0.613	P	0.55545	0.778	T	0.70371	-0.4890	10	0.41790	T	0.15	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	2999	P46939	UTRO_HUMAN	V	2999;554	ENSP00000356515:I2999V;ENSP00000356496:I554V	ENSP00000356496:I554V	I	+	1	0	UTRN	145156737	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.576000	0.82467	2.169000	0.68431	0.459000	0.35465	ATC		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PHTF2	57157	broad.mit.edu	37	7	77552026	77552026	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:77552026G>A	ENST00000248550.7	+	10	1126	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000416283.2_Silent_p.V316V|PHTF2_ENST00000275575.7_Silent_p.V312V|PHTF2_ENST00000422959.2_Silent_p.V316V|PHTF2_ENST00000450574.1_Silent_p.V316V|PHTF2_ENST00000415251.2_Silent_p.V312V|PHTF2_ENST00000307305.8_Silent_p.V312V|PHTF2_ENST00000424760.1_Silent_p.V312V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTCGTCATGTGGACAGGACTT	0.398																																						uc003ugs.3																			0				ovary(1)	1						c.(1048-1050)GTG>GTA		putative homeodomain transcription factor 2							72.0	68.0	69.0					7																	77552026		1877	4100	5977	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77552026G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1050G>A	7.37:g.77552026G>A						PHTF2_uc003ugo.3_Silent_p.V312V|PHTF2_uc003ugp.2_Silent_p.V312V|PHTF2_uc003ugq.3_Silent_p.V312V|PHTF2_uc010ldv.2_Silent_p.V312V|PHTF2_uc003ugr.3_Silent_p.V316V|PHTF2_uc003ugt.3_Silent_p.V316V|PHTF2_uc003ugu.3_Silent_p.V312V|PHTF2_uc003ugv.2_Silent_p.V175V|PHTF2_uc010ldw.1_Silent_p.V175V	p.V350V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			10	1176	+			350					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1050G>A																																																																																					0.398	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
TRRAP	8295	broad.mit.edu	37	7	98522846	98522846	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:98522846G>C	ENST00000359863.4	+	22	3144	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	TRRAP_ENST00000355540.3_Missense_Mutation_p.D979H|TRRAP_ENST00000446306.3_Missense_Mutation_p.D978H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	979					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCCTGGAGGACAACAAGCA	0.567																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(2935-2937)GAC>CAC		transformation/transcription domain-associated							172.0	138.0	149.0					7																	98522846		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522846G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2935G>C	7.37:g.98522846G>C	ENSP00000352925:p.Asp979His					TRRAP_uc011kis.1_Missense_Mutation_p.D979H|TRRAP_uc003upr.2_Missense_Mutation_p.D671H	p.D979H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3144	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		979					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2935G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.234691|5.234691	0.95207|0.95207	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03441|.	3.93;3.93|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82683|0.82683	0.5090|0.5090	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.78314|.	0.991;0.957;0.968|.	T|T	0.81250|0.81250	-0.1018|-0.1018	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	979;693;979|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|S	979;979;977|693	ENSP00000352925:D979H;ENSP00000347733:D979H|.	ENSP00000347733:D979H|.	D|R	+|+	1|3	0|2	TRRAP|TRRAP	98360782|98360782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	9.728000|9.728000	0.98792|0.98792	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AGG		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
PMPCB	9512	broad.mit.edu	37	7	102949403	102949403	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:102949403G>A	ENST00000249269.4	+	8	892	c.854G>A	c.(853-855)cGt>cAt	p.R285H	PMPCB_ENST00000428154.1_Missense_Mutation_p.R285H|PMPCB_ENST00000420236.2_Missense_Mutation_p.R180H	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	285					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTAGATTCGTGTGAGGGAT	0.408																																						uc003vbl.2																			0				ovary(4)	4						c.(853-855)CGT>CAT		mitochondrial processing peptidase beta subunit							140.0	123.0	129.0					7																	102949403		2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102949403G>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.854G>A	7.37:g.102949403G>A	ENSP00000249269:p.Arg285His					PMPCB_uc010liu.1_Missense_Mutation_p.R285H|PMPCB_uc003vbk.1_Missense_Mutation_p.R285H|PMPCB_uc003vbm.2_Missense_Mutation_p.R194H|PMPCB_uc010liv.2_Missense_Mutation_p.R191H|PMPCB_uc010liw.2_Missense_Mutation_p.R194H|PMPCB_uc011kll.1_Missense_Mutation_p.R180H|PMPCB_uc011klm.1_Missense_Mutation_p.R160H	p.R285H	NM_004279	NP_004270	O75439	MPPB_HUMAN			8	888	+			285					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.854G>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580707	0.86748	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.08720	3.06;3.06;3.06	5.35	5.35	0.76521	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D	0.77004	0.89;0.971;0.977;0.987;0.977;0.977;0.989	T	0.51942	-0.8641	10	0.66056	D	0.02	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	180;180;285;285;276;285;285	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	H	285;285;180	ENSP00000249269:R285H;ENSP00000390035:R285H;ENSP00000410393:R180H	ENSP00000249269:R285H	R	+	2	0	PMPCB	102736639	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	7.800000	0.85949	2.656000	0.90262	0.650000	0.86243	CGT		0.408	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279	
FLNC	2318	broad.mit.edu	37	7	128494166	128494166	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:128494166A>G	ENST00000325888.8	+	40	6884	c.6623A>G	c.(6622-6624)gAg>gGg	p.E2208G	FLNC_ENST00000346177.6_Missense_Mutation_p.E2175G|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2208	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGTGGAGGAGTCCACC	0.687																																						uc003vnz.3																			0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6622-6624)GAG>GGG		gamma filamin isoform a							20.0	26.0	24.0					7																	128494166		1989	4142	6131	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494166A>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6623A>G	7.37:g.128494166A>G	ENSP00000327145:p.Glu2208Gly					FLNC_uc003voa.3_Missense_Mutation_p.E2175G	p.E2208G	NM_001458	NP_001449	Q14315	FLNC_HUMAN			40	6832	+			2208			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6623A>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741050	0.69304	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85955	-2.05;-2.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	N	0.08118	0	0.58432	D	0.999992	D;B	0.76494	0.999;0.0	D;B	0.75484	0.986;0.002	T	0.83027	-0.0164	10	0.26408	T	0.33	.	13.8104	0.63260	1.0:0.0:0.0:0.0	.	2175;2208	Q14315-2;Q14315	.;FLNC_HUMAN	G	2208;2175	ENSP00000327145:E2208G;ENSP00000344002:E2175G	ENSP00000327145:E2208G	E	+	2	0	FLNC	128281402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.881000	0.92415	2.145000	0.66743	0.533000	0.62120	GAG		0.687	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
FRMD3	257019	broad.mit.edu	37	9	85958187	85958187	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:85958187A>G	ENST00000304195.3	-	5	596	c.390T>C	c.(388-390)ctT>ctC	p.L130L	FRMD3_ENST00000376438.1_Silent_p.L130L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	130	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTTTAATCTGAAGGTATAAAA	0.448																																						uc004ams.1																			0				ovary(1)|central_nervous_system(1)	2						c.(388-390)CTT>CTC		FERM domain containing 3							79.0	82.0	81.0					9																	85958187		1970	4159	6129	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85958187A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.390T>C	9.37:g.85958187A>G						FRMD3_uc004amr.1_Silent_p.L116L	p.L130L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			5	592	-			130			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.390T>C	CCDS43840.1																																																																																				0.448	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
LAMC3	10319	broad.mit.edu	37	9	133942520	133942520	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:133942520G>A	ENST00000361069.4	+	14	2654	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	841	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCACGGGTGACCACTGTGA	0.642																																						uc004caa.1																			0				ovary(2)|pancreas(1)	3						c.(2521-2523)GAC>AAC		laminin, gamma 3 precursor							90.0	77.0	82.0					9																	133942520		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133942520G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2521G>A	9.37:g.133942520G>A	ENSP00000354360:p.Asp841Asn						p.D841N	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	14	2619	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	841			Laminin EGF-like 8.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2521G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103078	0.08731	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61627	0.09	4.8	-2.48	0.06423	EGF-like, laminin (4);	0.608083	0.16381	N	0.216918	T	0.43033	0.1229	L	0.45137	1.4	0.09310	N	1	B	0.20459	0.045	B	0.33121	0.158	T	0.37079	-0.9721	10	0.18710	T	0.47	.	5.0643	0.14574	0.0685:0.3101:0.3908:0.2306	.	841	Q9Y6N6	LAMC3_HUMAN	N	841	ENSP00000354360:D841N	ENSP00000347156:D841N	D	+	1	0	LAMC3	132932341	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.250000	0.18235	-0.331000	0.08501	-0.937000	0.02696	GAC		0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
SURF4	6836	broad.mit.edu	37	9	136230531	136230531	+	Silent	SNP	G	G	A	rs371493854		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:136230531G>A	ENST00000371989.3	-	6	777	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	216					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAATATACGTTGATGGCAA	0.478																																						uc004cdj.2																			0					0						c.(646-648)AAC>AAT		surfeit 4		G		0,4406		0,0,2203	100.0	91.0	94.0		648	2.3	1.0	9		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SURF4	NM_033161.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		216/270	136230531	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230531G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.648C>T	9.37:g.136230531G>A						SURF4_uc011mda.1_Silent_p.N207N|SURF4_uc010nal.2_3'UTR|SURF4_uc011mdb.1_Silent_p.N173N|SURF4_uc011mdc.1_Silent_p.N173N|SURF4_uc011mdd.1_3'UTR	p.N216N	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	778	-			216			Helical; (Potential).		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.648C>T	CCDS6968.1																																																																																				0.478	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161	
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:47104414G>C	ENST00000218348.3	+	16	2215		c.e16-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567																																						uc004dhp.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.e16-1		ubiquitin specific peptidase 11							60.0	53.0	55.0					X																	47104414		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104414G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2216-1G>C	X.37:g.47104414G>C						USP11_uc004dhq.2_Splice_Site_p.A465_splice	p.A739_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN			16	2216	+								B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.2216_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301102	0.40694	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46989358	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.210000	0.89753	2.166000	0.68216	0.513000	0.50165	.		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron
HUWE1	10075	broad.mit.edu	37	X	53576344	53576344	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:53576344C>T	ENST00000342160.3	-	66	10068	c.9611G>A	c.(9610-9612)cGt>cAt	p.R3204H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3204H|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3204					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCGGTGTAGACGGCTAGTATT	0.557																																						uc004dsp.2																			0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9610-9612)CGT>CAT		HECT, UBA and WWE domain containing 1							75.0	73.0	73.0					X																	53576344		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576344C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9611G>A	X.37:g.53576344C>T	ENSP00000340648:p.Arg3204His					HUWE1_uc004dsn.2_Missense_Mutation_p.R2012H	p.R3204H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			67	10013	-			3204					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9611G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241996	0.58995	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.976;0.989	T	0.65755	-0.6091	10	0.51188	T	0.08	.	17.3491	0.87318	0.0:1.0:0.0:0.0	.	3204;3188	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	3204	ENSP00000340648:R3204H;ENSP00000262854:R3204H	ENSP00000262854:R3204H	R	-	2	0	HUWE1	53593069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.363000	0.80096	0.600000	0.82982	CGT		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
DCAF12L1	139170	broad.mit.edu	37	X	125686329	125686329	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:125686329G>A	ENST00000371126.1	-	1	505	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGGCGCTCCGTCAGCAGCTC	0.657																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(262-264)ACG>ATG		DDB1 and CUL4 associated factor 12-like 1							66.0	55.0	58.0					X																	125686329		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125686329G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.263C>T	X.37:g.125686329G>A	ENSP00000360167:p.Thr88Met						p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	514	-			88					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.263C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.126244	0.56721	.	.	ENSG00000198889	ENST00000371126	T	0.37411	1.2	3.54	-7.08	0.01558	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.33847	0.0877	L	0.40543	1.245	0.09310	N	1	D	0.63046	0.992	P	0.50791	0.65	T	0.50197	-0.8856	9	0.72032	D	0.01	.	11.1436	0.48417	0.0:0.6095:0.1988:0.1916	.	88	Q5VU92	DC121_HUMAN	M	88	ENSP00000360167:T88M	ENSP00000360167:T88M	T	-	2	0	DCAF12L1	125514010	0.050000	0.20438	0.000000	0.03702	0.351000	0.29236	0.290000	0.18975	-2.149000	0.00797	-0.382000	0.06688	ACG		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
MAGEC1	9947	broad.mit.edu	37	X	140995245	140995245	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:140995245G>A	ENST00000285879.4	+	4	2341	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGAGGGGGAGGATTCCC	0.577										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2053-2055)GGG>GGA		melanoma antigen family C, 1							63.0	66.0	65.0					X																	140995245		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995245G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2055G>A	X.37:g.140995245G>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G685G	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2341	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2055G>A	CCDS35417.1																																																																																				0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
HAUS7	55559	broad.mit.edu	37	X	152735936	152735936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:152735936G>A	ENST00000370211.4	-	1	153	c.110C>T	c.(109-111)gCg>gTg	p.A37V	HAUS7_ENST00000370212.3_Missense_Mutation_p.A37V|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.A27V|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	37					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCCACAGCCGCCCTGGACAC	0.726																																						uc004fho.1																			0					0						c.(109-111)GCG>GTG		HAUS augmin-like complex subunit 7							30.0	24.0	26.0					X																	152735936		2196	4296	6492	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152735936G>A	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.110C>T	X.37:g.152735936G>A	ENSP00000359230:p.Ala37Val					HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.A37V|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	p.A37V	NM_017518	NP_059988	Q99871	HAUS7_HUMAN			1	668	-			37					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.110C>T	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.50|16.50	3.140900|3.140900	0.56936|0.56936	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000453918|ENST00000370211;ENST00000370219;ENST00000370212;ENST00000370210	.|T;T;T;T	.|0.32515	.|1.45;1.45;1.45;1.45	4.34|4.34	1.2|1.2	0.21068|0.21068	.|.	.|0.366692	.|0.25686	.|N	.|0.028968	.|T	.|0.34629	.|0.0904	M|M	0.61703|0.61703	1.905|1.905	0.23598|0.23598	N|N	0.997329|0.997329	.|D;D	.|0.71674	.|0.987;0.998	.|P;P	.|0.61874	.|0.511;0.895	.|T	.|0.37220	.|-0.9715	.|10	.|0.02654	.|T	.|1	.|-8.4511	3.4877|3.4877	0.07626|0.07626	0.2596:0.0:0.5476:0.1927|0.2596:0.0:0.5476:0.1927	.|.	.|37;37	.|Q99871;Q99871-2	.|HAUS7_HUMAN;.	.|V	-1|27;37;37;27	.|ENSP00000359230:A27V;ENSP00000359239:A37V;ENSP00000359231:A37V;ENSP00000359229:A27V	.|ENSP00000359229:A27V	.|A	-|-	.|2	.|0	HAUS7|HAUS7	152389130|152389130	0.000000|0.000000	0.05858|0.05858	0.034000|0.034000	0.17996|0.17996	0.701000|0.701000	0.40568|0.40568	-0.135000|-0.135000	0.10420|0.10420	-0.015000|-0.015000	0.14150|0.14150	0.525000|0.525000	0.51046|0.51046	.|GCG		0.726	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518	
