#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
COL8A2	1296	broad.mit.edu	37	1	36565672	36565672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:36565672C>T	ENST00000397799.1	-	3	396	c.172G>A	c.(172-174)Gag>Aag	p.E58K	COL8A2_ENST00000303143.4_Missense_Mutation_p.E58K|COL8A2_ENST00000481785.1_Intron			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	58	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTTGCCCTCACGGAAGGGC	0.662											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzv.2																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(172-174)Gag>Aag		Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.							61.0	59.0	60.0					1																	36565672		2203	4300	6503	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36565672C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.172G>A	1.37:g.36565672C>T	ENSP00000380901:p.Glu58Lys		OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863	COL8A2_uc001bzw.2_Intron	p.E58K	NM_005202	NP_005193	P25067	CO8A2_HUMAN			0	179	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	58			Nonhelical region (NC2).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.172G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774202	0.69992	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.91180	-2.8;-2.8	4.37	4.37	0.52481	.	0.122714	0.53938	D	0.000059	D	0.86990	0.6066	N	0.05050	-0.12	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.82723	-0.0316	10	0.07325	T	0.83	.	14.8617	0.70387	0.0:1.0:0.0:0.0	.	58	P25067	CO8A2_HUMAN	K	58	ENSP00000305913:E58K;ENSP00000380901:E58K	ENSP00000305913:E58K	E	-	1	0	COL8A2	36338259	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	5.066000	0.64351	2.282000	0.76494	0.491000	0.48974	GAG		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202	
CYP4A11	1579	broad.mit.edu	37	1	47406941	47406941	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:47406941G>A	ENST00000310638.4	-	1	196	c.165C>T	c.(163-165)ccC>ccT	p.P55P	CYP4A11_ENST00000371905.1_Silent_p.P55P|CYP4A11_ENST00000371904.4_Silent_p.P55P|CYP4A11_ENST00000462347.1_Silent_p.P55P|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	55					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCAGTGGGAGGGAGGGCACG	0.597																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(163-165)ccC>ccT		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						64.0	57.0	59.0					1																	47406941		2203	4298	6501	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47406941G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.165C>T	1.37:g.47406941G>A						CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_Non-coding_Transcript	p.P55P	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			0	216	-			55					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.165C>T	CCDS543.1																																																																																				0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
LHX8	431707	broad.mit.edu	37	1	75614357	75614357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:75614357G>A	ENST00000294638.5	+	8	1464	c.800G>A	c.(799-801)cGt>cAt	p.R267H	LHX8_ENST00000356261.3_Missense_Mutation_p.R257H	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	267					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGAGCAGACGTGTGATACAG	0.383																																						uc001dgo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(799-801)cGt>cAt		Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.							157.0	153.0	154.0					1																	75614357		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75614357G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.800G>A	1.37:g.75614357G>A	ENSP00000294638:p.Arg267His					LHX8_uc001dgq.3_Missense_Mutation_p.R206H	p.R267H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			7	1464	+			267					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.800G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089784	0.94149	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96802	-4.13;-4.13	5.55	5.55	0.83447	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	267	Q68G74	LHX8_HUMAN	H	267;257	ENSP00000294638:R267H;ENSP00000348597:R257H	ENSP00000294638:R267H	R	+	2	0	LHX8	75386945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.439000	0.97543	2.767000	0.95098	0.563000	0.77884	CGT		0.383	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
MCOLN2	255231	broad.mit.edu	37	1	85422200	85422200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:85422200C>T	ENST00000370608.3	-	4	546	c.479G>A	c.(478-480)gGc>gAc	p.G160D	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.G132D	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	160					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACTTTTAAGCCAATTCTATT	0.373																																						uc001dkm.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(478-480)gGc>gAc		Homo sapiens mucolipin 2 (MCOLN2), mRNA.							213.0	205.0	208.0					1																	85422200		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85422200C>T	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.479G>A	1.37:g.85422200C>T	ENSP00000359640:p.Gly160Asp					MCOLN2_uc001dkn.3_Non-coding_Transcript	p.G160D	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	3	720	-			160					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.479G>A	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470862	0.43942	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.61158	0.13;0.13	5.16	4.24	0.50183	.	0.178876	0.49916	D	0.000138	T	0.52948	0.1766	M	0.73598	2.24	0.49687	D	0.999819	D	0.54047	0.964	P	0.46629	0.522	T	0.60772	-0.7197	10	0.49607	T	0.09	-40.8037	15.652	0.77104	0.0:0.862:0.138:0.0	.	160	Q8IZK6	MCLN2_HUMAN	D	160;132	ENSP00000359640:G160D;ENSP00000284027:G132D	ENSP00000284027:G132D	G	-	2	0	MCOLN2	85194788	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.130000	0.31393	1.290000	0.44636	0.650000	0.86243	GGC		0.373	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259	
COL24A1	255631	broad.mit.edu	37	1	86289377	86289379	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:86289377_86289379delTTG	ENST00000370571.2	-	44	4090_4092	c.3724_3726delCAA	c.(3724-3726)caadel	p.Q1242del	COL24A1_ENST00000436319.1_In_Frame_Del_p.Q1242del	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1242	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGGGGTCCTTGTTGTCCAGTG	0.34																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3724-3726)caadel		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.																																				SO:0001651	inframe_deletion	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86289377_86289379delTTG	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3724_3726delCAA	1.37:g.86289380_86289382delTTG	ENSP00000359603:p.Gln1242del					COL24A1_uc001dli.3_In_Frame_Del_p.Q378del|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.Q1242del	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	43	3799_3801	-			1242			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	In_Frame_Del	DEL	ENST00000370571.2	37	c.3724_3726delCAA	CCDS41353.1																																																																																				0.340	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc021oul.1																			5	Substitution - Missense(5)	p.E3455K(10)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.E3455K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
ACP6	51205	broad.mit.edu	37	1	147131584	147131584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:147131584C>T	ENST00000369238.6	-	3	853	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ACP6_ENST00000392988.2_Missense_Mutation_p.G136R	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	136	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTCTCTCTCCCAAGGCAAAC	0.483																																						uc001epr.2																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(406-408)Gga>Aga		Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.							122.0	111.0	115.0					1																	147131584		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131584C>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.406G>A	1.37:g.147131584C>T	ENSP00000358241:p.Gly136Arg					ACP6_uc009wjj.1_Missense_Mutation_p.G93R	p.G136R	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			2	870	-	all_hematologic(923;0.0276)		136					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.406G>A	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648756	0.87958	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	D;D	0.86497	-2.13;-2.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95583	0.8648	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	136;136	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	R	136	ENSP00000358241:G136R;ENSP00000376714:G136R	ENSP00000358241:G136R	G	-	1	0	ACP6	145598208	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.015000	0.76387	2.656000	0.90262	0.655000	0.94253	GGA		0.483	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361	
FLG	2312	broad.mit.edu	37	1	152275520	152275520	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:152275520C>A	ENST00000368799.1	-	3	11877	c.11842G>T	c.(11842-11844)Ggc>Tgc	p.G3948C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3948	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGACTGCCACGTGACTGT	0.438									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11842-11844)Ggc>Tgc		Homo sapiens filaggrin (FLG), mRNA.							150.0	140.0	143.0					1																	152275520		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275520C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11842G>T	1.37:g.152275520C>A	ENSP00000357789:p.Gly3948Cys						p.G3948C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11878	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3948			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11842G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341837	0.05243	.	.	ENSG00000143631	ENST00000368799	T	0.00873	5.59	2.39	-4.77	0.03219	.	.	.	.	.	T	0.00271	0.0008	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.41179	-0.9523	9	0.52906	T	0.07	.	2.7928	0.05393	0.34:0.237:0.0:0.4229	.	3948	P20930	FILA_HUMAN	C	3948	ENSP00000357789:G3948C	ENSP00000357789:G3948C	G	-	1	0	FLG	150542144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.067000	0.01383	-1.807000	0.01236	-1.506000	0.00953	GGC		0.438	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SH2D1B	117157	broad.mit.edu	37	1	162368720	162368720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:162368720G>A	ENST00000367929.2	-	3	465	c.356C>T	c.(355-357)aCa>aTa	p.T119I	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	119					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACCACAAATGTTTCCAACTC	0.393																																						uc001gbz.1																			0		p.T119T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(355-357)aCa>aTa		Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.							85.0	80.0	82.0					1																	162368720		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368720G>A	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.356C>T	1.37:g.162368720G>A	ENSP00000356906:p.Thr119Ile					SH2D1B_uc001gca.1_Intron	p.T119I	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	478	-	all_hematologic(112;0.115)		119					B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.356C>T	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414874	0.11870	.	.	ENSG00000198574	ENST00000367929	T	0.81163	-1.46	4.47	0.489	0.16854	.	2.144800	0.03176	N	0.171360	T	0.36166	0.0957	N	0.04508	-0.205	0.22684	N	0.99886	B	0.06786	0.001	B	0.04013	0.001	T	0.22836	-1.0205	9	0.32370	T	0.25	-53.2558	3.0729	0.06236	0.4144:0.2418:0.3439:0.0	.	119	O14796	SH21B_HUMAN	I	119	ENSP00000356906:T119I	ENSP00000356906:T119I	T	-	2	0	SH2D1B	160635344	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.480000	0.06559	0.322000	0.23283	0.655000	0.94253	ACA		0.393	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282	
MYOC	4653	broad.mit.edu	37	1	171621317	171621317	+	Silent	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:171621317G>T	ENST00000037502.6	-	1	506	c.435C>A	c.(433-435)ctC>ctA	p.L145L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	145					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTCTCGGAGGAGGTTGCTGT	0.577																																						uc001ghu.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(433-435)ctC>ctA		Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.							119.0	130.0	126.0					1																	171621317		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621317G>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.435C>A	1.37:g.171621317G>T						MYOC_uc010pmk.2_Silent_p.L87L	p.L145L	NM_000261	NP_000252	Q99972	MYOC_HUMAN			0	457	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		145					B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.435C>A	CCDS1297.1																																																																																				0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261	
RBBP5	5929	broad.mit.edu	37	1	205065948	205065948	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:205065948G>A	ENST00000264515.6	-	12	1399	c.1258C>T	c.(1258-1260)Ccg>Tcg	p.P420S	RBBP5_ENST00000367164.1_Missense_Mutation_p.P420S	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	420					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCATCCGGTGGGGGGCCG	0.498																																						uc010prd.2																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1363-1365)Ccg>Tcg		Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.							122.0	129.0	126.0					1																	205065948		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205065948G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1258C>T	1.37:g.205065948G>A	ENSP00000264515:p.Pro420Ser					RBBP5_uc010pre.2_Missense_Mutation_p.P293S|RBBP5_uc001hbu.2_Missense_Mutation_p.P420S|RBBP5_uc001hbv.2_Missense_Mutation_p.P420S	p.P455S	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1644	-	Breast(84;0.0505)		420					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.1363C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900551	0.52227	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.57595	0.39;0.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.40543	1.245	0.80722	D	1	P;B;B;P	0.36990	0.519;0.06;0.037;0.577	B;B;B;B	0.31495	0.131;0.022;0.017;0.085	T	0.35500	-0.9786	10	0.07813	T	0.8	.	19.59	0.95506	0.0:0.0:1.0:0.0	.	293;455;420;420	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	S	420	ENSP00000264515:P420S;ENSP00000356132:P420S	ENSP00000264515:P420S	P	-	1	0	RBBP5	203332571	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.443000	0.97568	2.727000	0.93392	0.655000	0.94253	CCG		0.498	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
SYT14	255928	broad.mit.edu	37	1	210267700	210267700	+	Missense_Mutation	SNP	C	C	T	rs77686387	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:210267700C>T	ENST00000472886.1	+	5	490	c.476C>T	c.(475-477)cCg>cTg	p.P159L	SYT14_ENST00000367015.1_Missense_Mutation_p.P121L|SYT14_ENST00000537238.1_Missense_Mutation_p.P121L|SYT14_ENST00000367019.1_Missense_Mutation_p.P159L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.P159L|SYT14_ENST00000422431.1_Missense_Mutation_p.P204L|SYT14_ENST00000534859.1_Missense_Mutation_p.P159L			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	159					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACACCCCCGCTGGATGAA	0.428													C|||	11	0.00219649	0.0	0.0	5008	,	,		17284	0.0089		0.001	False		,,,				2504	0.001					uc001hhs.4																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(610-612)cCg>cTg		Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	75.0	79.0	78.0		611,476,611,476	5.6	1.0	1	dbSNP_132	78	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	98,98,98,98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	204/620,159/575,204/601,159/556	210267700	2,13004	2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267700C>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.476C>T	1.37:g.210267700C>T	ENSP00000418901:p.Pro159Leu					SYT14_uc001hht.4_Missense_Mutation_p.P159L|SYT14_uc010psn.2_Missense_Mutation_p.P204L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.P121L|SYT14_uc009xcv.3_Missense_Mutation_p.P159L	p.P204L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	5	669	+			159					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.611C>T	CCDS31014.1	4	0.0018315018315018315	0	0.0	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	26.1	4.708507	0.89018	0.0	2.33E-4	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.17854	3.39;3.25;2.25;3.53;3.26;3.52;3.53	5.62	5.62	0.85841	.	0.113614	0.64402	D	0.000011	T	0.20414	0.0491	M	0.61703	1.905	0.80722	D	1	P;B;D;D	0.62365	0.875;0.035;0.989;0.991	B;B;P;P	0.49708	0.083;0.004;0.477;0.62	T	0.01652	-1.1303	10	0.17832	T	0.49	-12.6577	17.813	0.88622	0.0:1.0:0.0:0.0	.	187;159;159;204	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	L	204;159;159;121;159;159;121	ENSP00000389039:P204L;ENSP00000442891:P159L;ENSP00000445837:P159L;ENSP00000437423:P121L;ENSP00000355986:P159L;ENSP00000418901:P159L;ENSP00000355982:P121L	ENSP00000355982:P121L	P	+	2	0	SYT14	208334323	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.608000	0.67654	2.650000	0.89964	0.591000	0.81541	CCG		0.428	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
MPP7	143098	broad.mit.edu	37	10	28420514	28420514	+	Missense_Mutation	SNP	C	C	T	rs200656300		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:28420514C>T	ENST00000375732.1	-	6	681	c.422G>A	c.(421-423)cGt>cAt	p.R141H	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.R16H|MPP7_ENST00000375719.3_Missense_Mutation_p.R141H|MPP7_ENST00000337532.5_Missense_Mutation_p.R141H|MPP7_ENST00000540098.1_Missense_Mutation_p.R141H			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	141	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.R141H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGACCAGACGGATTATTTT	0.423																																						uc001iua.1																			1	Substitution - Missense(1)	p.R141H(2)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(421-423)cGt>cAt		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.		C	HIS/ARG	0,4406		0,0,2203	133.0	121.0	125.0		422	5.7	1.0	10		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP7	NM_173496.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	141/577	28420514	1,13005	2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28420514C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.422G>A	10.37:g.28420514C>T	ENSP00000364884:p.Arg141His					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R141H|MPP7_uc009xla.2_Missense_Mutation_p.R141H|MPP7_uc010qdv.1_Non-coding_Transcript	p.R141H	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			7	826	-			141			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.422G>A	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202861	0.94997	0.0	1.16E-4	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.74	5.74	0.90152	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54125	-0.8340	10	0.46703	T	0.11	.	19.513	0.95151	0.0:1.0:0.0:0.0	.	141	Q5T2T1	MPP7_HUMAN	H	141;141;141;141;16	ENSP00000364884:R141H;ENSP00000337907:R141H;ENSP00000438693:R141H;ENSP00000364871:R141H;ENSP00000405397:R16H	ENSP00000337907:R141H	R	-	2	0	MPP7	28460520	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.620000	0.83070	2.716000	0.92895	0.561000	0.74099	CGT		0.423	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
ZNF239	8187	broad.mit.edu	37	10	44052995	44052995	+	Missense_Mutation	SNP	G	G	T	rs199750361	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:44052995G>T	ENST00000306006.6	-	2	1185	c.533C>A	c.(532-534)cCc>cAc	p.P178H	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Missense_Mutation_p.P178H|ZNF239_ENST00000426961.1_Missense_Mutation_p.P178H|ZNF239_ENST00000374446.2_Missense_Mutation_p.P178H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGGTCACAGGGTTTCTCCTC	0.428																																						uc001jaw.4																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(532-534)cCc>cAc		Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.							145.0	132.0	137.0					10																	44052995		1951	4150	6101	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052995G>T	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.533C>A	10.37:g.44052995G>T	ENSP00000307774:p.Pro178His					ZNF239_uc001jax.4_Missense_Mutation_p.P178H|ZNF239_uc009xmj.3_Missense_Mutation_p.P178H|ZNF239_uc009xmk.3_Missense_Mutation_p.P178H|ZNF239_uc021pph.1_Missense_Mutation_p.P178H	p.P178H	NM_005674	NP_005665	Q16600	ZN239_HUMAN			1	1186	-			178					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.533C>A	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817989	0.71028	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	3.98	2.13	0.27403	.	.	.	.	.	T	0.43322	0.1242	M	0.79926	2.475	0.28014	N	0.934789	D	0.61080	0.989	P	0.45998	0.5	T	0.42832	-0.9428	9	0.87932	D	0	-3.229	8.3809	0.32470	0.1959:0.0:0.8041:0.0	.	178	Q16600	ZN239_HUMAN	H	178	ENSP00000307774:P178H;ENSP00000363569:P178H;ENSP00000398202:P178H;ENSP00000443907:P178H	ENSP00000307774:P178H	P	-	2	0	ZNF239	43373001	0.965000	0.33210	0.002000	0.10522	0.204000	0.24138	3.503000	0.53340	0.644000	0.30656	0.655000	0.94253	CCC		0.428	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TCF7L2	6934	broad.mit.edu	37	10	114925317	114925317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:114925317delA	ENST00000355995.4	+	15	1953	c.1446delA	c.(1444-1446)agafs	p.R482fs	TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.R465fs|TCF7L2_ENST00000369389.1_Frame_Shift_Del_p.E152fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.R198fs|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.E465fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.R459fs|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.R465fs|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.E458fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.R482fs|TCF7L2_ENST00000369386.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	482	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTCTAGGAGAAAAAAAAAGT	0.522			T	VTI1A	colorectal																																	uc021pyi.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1444-1446)agafs		Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.							94.0	102.0	99.0					10																	114925317		2203	4300	6503	SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925317delA	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1446delA	10.37:g.114925317delA	ENSP00000348274:p.Arg482fs					TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lae.4_Frame_Shift_Del_p.R465fs|TCF7L2_uc010qrm.2_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.2_Frame_Shift_Del_p.E384fs|TCF7L2_uc021pyg.1_Frame_Shift_Del_p.R198fs|TCF7L2_uc021pyh.1_Frame_Shift_Del_p.E440fs|TCF7L2_uc021pyj.1_Frame_Shift_Del_p.E458fs|TCF7L2_uc021pyk.1_Frame_Shift_Del_p.R447fs|TCF7L2_uc021pyl.1_Frame_Shift_Del_p.E423fs|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_Frame_Shift_Del_p.E414fs|TCF7L2_uc021pyn.1_Frame_Shift_Del_p.R470fs|TCF7L2_uc021pyo.1_Frame_Shift_Del_p.E446fs|TCF7L2_uc021pyp.1_Frame_Shift_Del_p.E437fs|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.2_Frame_Shift_Del_p.E435fs|TCF7L2_uc001lad.4_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.4_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.4_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrl.2_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrr.2_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.2_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	p.R482fs	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	14	1953	+		Breast(234;0.058)|Colorectal(252;0.0615)	482			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	ENST00000355995.4	37	c.1446delA																																																																																					0.522	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
KNDC1	85442	broad.mit.edu	37	10	135038289	135038289	+	Silent	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:135038289C>G	ENST00000304613.3	+	30	5166	c.5145C>G	c.(5143-5145)tcC>tcG	p.S1715S	KNDC1_ENST00000368572.2_Silent_p.S1717S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1715	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCGACATTTCCACACTCGCCG	0.582																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5143-5145)tcC>tcG		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							79.0	67.0	71.0					10																	135038289		2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038289C>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5145C>G	10.37:g.135038289C>G							p.S1715S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	29	5146	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1715			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.5145C>G	CCDS7674.1																																																																																				0.582	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
OR5L2	26338	broad.mit.edu	37	11	55594994	55594994	+	Silent	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:55594994A>G	ENST00000378397.1	+	1	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCATGGTGCAATTCTACTTGT	0.473										HNSCC(27;0.073)																												uc001nhy.1																			0		p.Q100R(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(298-300)caA>caG		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							191.0	180.0	184.0					11																	55594994		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594994A>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.300A>G	11.37:g.55594994A>G		HNSCC(27;0.073)					p.Q100Q	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	300	+		all_epithelial(135;0.208)	100					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.300A>G	CCDS31511.1																																																																																				0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	
GLYATL1	92292	broad.mit.edu	37	11	58723492	58723492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:58723492C>T	ENST00000317391.4	+	8	1241	c.901C>T	c.(901-903)Cca>Tca	p.P301S	RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.P332S	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	301						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418																																						uc001nnh.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(994-996)Cca>Tca		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						49.0	50.0	50.0					11																	58723492		2201	4293	6494	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723492C>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.901C>T	11.37:g.58723492C>T	ENSP00000322223:p.Pro301Ser					GLYATL1_uc001nnf.3_Missense_Mutation_p.P301S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.2_Missense_Mutation_p.P301S	p.P332S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			6	1044	+			301					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.994C>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	8.688	0.906668	0.17833	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.25414	2.38;1.8	1.67	1.67	0.24075	.	1.908140	0.04412	U	0.366123	T	0.19565	0.0470	L	0.36672	1.1	0.09310	N	1	P;B	0.38800	0.648;0.244	B;B	0.31290	0.127;0.025	T	0.29671	-1.0004	10	0.66056	D	0.02	.	6.6757	0.23093	0.0:1.0:0.0:0.0	.	332;301	Q969I3-2;Q969I3	.;GLYL1_HUMAN	S	278;301;332	ENSP00000322223:P301S;ENSP00000300079:P332S	ENSP00000300079:P332S	P	+	1	0	GLYATL1	58480068	0.003000	0.15002	0.029000	0.17559	0.085000	0.17905	0.499000	0.22546	0.886000	0.36113	0.411000	0.27672	CCA		0.418	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
FAT3	120114	broad.mit.edu	37	11	92532317	92532317	+	Silent	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:92532317A>G	ENST00000298047.6	+	9	6155	c.6138A>G	c.(6136-6138)gaA>gaG	p.E2046E	FAT3_ENST00000409404.2_Silent_p.E2046E|FAT3_ENST00000525166.1_Silent_p.E1896E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2046	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCGTGAAGAACAAGAGTTAT	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6136-6138)gaA>gaG		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							57.0	59.0	58.0					11																	92532317		1929	4140	6069	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532317A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6138A>G	11.37:g.92532317A>G		TCGA Ovarian(4;0.039)					p.E2046E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	6155	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2046			Cadherin 18.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.6138A>G																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
TTC12	54970	broad.mit.edu	37	11	113233171	113233171	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:113233171G>A	ENST00000529221.1	+	19	1768	c.1663G>A	c.(1663-1665)Gtt>Att	p.V555I	TTC12_ENST00000393020.1_Missense_Mutation_p.V555I|TTC12_ENST00000483239.2_Missense_Mutation_p.V561I|TTC12_ENST00000314756.3_Missense_Mutation_p.V555I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	555										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGAAAATTGTTGAGGAGGC	0.428																																						uc001pnv.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1681-1683)Gtt>Att		Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.							98.0	104.0	102.0					11																	113233171		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113233171G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1663G>A	11.37:g.113233171G>A	ENSP00000433757:p.Val555Ile					TTC12_uc001pnu.3_Missense_Mutation_p.V555I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.V405I	p.V561I	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	18	1786	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	555					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1681G>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	6.115	0.389424	0.11581	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.05	-7.15	0.01521	Armadillo-like helical (1);Armadillo-type fold (1);	2.331600	0.01435	N	0.014866	T	0.35740	0.0942	L	0.34521	1.04	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.15052	0.012;0.012	T	0.23404	-1.0189	10	0.37606	T	0.19	-0.161	11.1305	0.48343	0.697:0.0:0.2107:0.0922	.	555;555	A8K8G6;Q9H892	.;TTC12_HUMAN	I	555;555;555;561	ENSP00000433757:V555I;ENSP00000315160:V555I;ENSP00000376743:V555I;ENSP00000419652:V561I	ENSP00000315160:V555I	V	+	1	0	TTC12	112738381	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.543000	0.06084	-1.426000	0.01994	-0.345000	0.07892	GTT		0.428	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
SRPR	6734	broad.mit.edu	37	11	126137085	126137085	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:126137085C>G	ENST00000332118.6	-	4	665	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R	FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.G143R|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	171					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTCTTGGCCCCCTTTTTTTTG	0.438																																						uc001qdh.3																			0		p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(511-513)Ggg>Cgg		Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.							354.0	346.0	348.0					11																	126137085		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137085C>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.511G>C	11.37:g.126137085C>G	ENSP00000328023:p.Gly171Arg					SRPR_uc010sbm.2_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	p.G171R	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	3	689	-	all_hematologic(175;0.145)		171					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.511G>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.790053	0.31685	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.92	4.92	0.64577	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.213531	0.49916	D	0.000125	T	0.49745	0.1575	L	0.29908	0.895	0.47153	D	0.999332	B;B	0.34372	0.31;0.451	B;B	0.39299	0.296;0.173	T	0.39522	-0.9610	9	0.13108	T	0.6	-12.9188	18.3148	0.90217	0.0:1.0:0.0:0.0	.	143;171	E9PJS4;P08240	.;SRPR_HUMAN	R	171;143	.	ENSP00000328023:G171R	G	-	1	0	SRPR	125642295	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.577000	0.53885	2.546000	0.85860	0.305000	0.20034	GGG		0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
ACAD8	27034	broad.mit.edu	37	11	134129623	134129623	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:134129623G>T	ENST00000281182.4	+	6	795	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ACAD8_ENST00000537423.1_Missense_Mutation_p.G153V|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_Missense_Mutation_p.G132V|ACAD8_ENST00000374752.4_Missense_Mutation_p.G103V	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	230					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	CTCAGCTTTGGCAAGAAGGAG	0.517																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.3																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(688-690)gGc>gTc		Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.							89.0	92.0	91.0					11																	134129623		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134129623G>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.689G>T	11.37:g.134129623G>T	ENSP00000281182:p.Gly230Val					ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.G132V|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.G153V|ACAD8_uc001qhl.3_Missense_Mutation_p.G103V|ACAD8_uc010scr.1_Missense_Mutation_p.G192V|ACAD8_uc009zde.1_Missense_Mutation_p.G103V	p.G230V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	5	750	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	230					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.689G>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930891	0.92389	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	5.83	5.83	0.93111	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.044369	0.85682	D	0.000000	D	0.99524	0.9830	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;1.0	D	0.98438	1.0585	10	0.87932	D	0	.	20.1067	0.97897	0.0:0.0:1.0:0.0	.	171;153;132;103;230	B7Z767;B7Z5W4;B7Z9L5;Q6ZWP6;Q9UKU7	.;.;.;.;ACAD8_HUMAN	V	230;153;132;103;192	ENSP00000281182:G230V;ENSP00000443763:G153V;ENSP00000438302:G132V;ENSP00000363884:G103V	ENSP00000281182:G230V	G	+	2	0	ACAD8	133634833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GGC		0.517	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384	
CD163L1	283316	broad.mit.edu	37	12	7586265	7586265	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:7586265C>T	ENST00000313599.3	-	3	207	c.150G>A	c.(148-150)ctG>ctA	p.L50L	CD163L1_ENST00000396630.1_Silent_p.L50L|CD163L1_ENST00000416109.2_Silent_p.L50L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	50	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCATTGACCAGCCTCAACT	0.473																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(148-150)ctG>ctA		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							141.0	115.0	124.0					12																	7586265		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586265C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.150G>A	12.37:g.7586265C>T						CD163L1_uc001qsy.3_Silent_p.L50L	p.L50L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			2	176	-			50			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.150G>A	CCDS8577.1																																																																																				0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
PIK3C2G	5288	broad.mit.edu	37	12	18435035	18435035	+	Missense_Mutation	SNP	C	C	T	rs191077735	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:18435035C>T	ENST00000266497.5	+	1	58	c.20C>T	c.(19-21)aCg>aTg	p.T7M	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.T7M|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.T7M|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.T7M			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	7					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.T7M(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTGGCAAACGGATCCAAAT	0.353													.|||	4	0.000798722	0.0	0.0014	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.002					uc001rdt.3																			1	Substitution - Missense(1)	p.T7M(2)	central_nervous_system(1)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(19-21)aCg>aTg		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.		C	MET/THR	1,3665		0,1,1832	46.0	42.0	44.0		20	3.4	1.0	12		44	3,8171		0,3,4084	yes	missense	PIK3C2G	NM_004570.4	81	0,4,5916	TT,TC,CC		0.0367,0.0273,0.0338	probably-damaging	7/1446	18435035	4,11836	1833	4087	5920	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435035C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.20C>T	12.37:g.18435035C>T	ENSP00000266497:p.Thr7Met					PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T7M|PIK3C2G_uc010sic.2_5'UTR	p.T7M	NM_004570	NP_004561	O75747	P3C2G_HUMAN			1	136	+		Hepatocellular(102;0.194)	7					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.20C>T	CCDS44839.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	15.13	2.743150	0.49151	2.73E-4	3.67E-4	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.67171	1.1;-0.25;-0.25;-0.21	4.29	3.39	0.38822	.	0.918343	0.09112	N	0.846971	T	0.64735	0.2625	L	0.34521	1.04	0.24625	N	0.993656	D;D	0.59767	0.986;0.976	P;P	0.50896	0.653;0.451	T	0.55218	-0.8175	10	0.87932	D	0	-6.2815	10.1647	0.42873	0.0:0.7796:0.2204:0.0	.	7;7	F5H369;O75747	.;P3C2G_HUMAN	M	7	ENSP00000443850:T7M;ENSP00000404845:T7M;ENSP00000266497:T7M;ENSP00000445381:T7M	ENSP00000266497:T7M	T	+	2	0	PIK3C2G	18326302	0.019000	0.18553	0.994000	0.49952	0.723000	0.41478	-0.434000	0.06939	1.390000	0.46547	0.655000	0.94253	ACG		0.353	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
KRT7	3855	broad.mit.edu	37	12	52642505	52642505	+	Silent	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:52642505C>A	ENST00000331817.5	+	9	1554	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	KRT7_ENST00000552322.1_3'UTR|KRT86_ENST00000544024.1_5'Flank|RP3-416H24.1_ENST00000546686.1_RNA|KRT121P_ENST00000529785.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	457	Tail.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I457M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CTTATTCCATCCGGACCGCAT	0.647																																						uc001saa.1																			1	Substitution - Missense(1)	p.I457M(2)	urinary_tract(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1369-1371)atC>atA		Homo sapiens keratin 7 (KRT7), mRNA.							36.0	40.0	39.0					12																	52642505		2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52642505C>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1371C>A	12.37:g.52642505C>A						KRT86_uc010snq.2_5'Flank	p.I457I	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	8	1498	+			457			Tail.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1371C>A	CCDS8822.1																																																																																				0.647	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556	
KRT2	3849	broad.mit.edu	37	12	53039092	53039092	+	Missense_Mutation	SNP	C	C	T	rs142557360	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:53039092C>T	ENST00000309680.3	-	9	1652	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	544	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCCAGACTGTCGGCCTCCAGA	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		19432	0.0		0.001	False		,,,				2504	0.001					uc001sat.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1630-1632)cGa>cAa		Homo sapiens keratin 2 (KRT2), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	118.0	123.0	121.0		1631	4.1	0.4	12	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT2	NM_000423.2	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	544/640	53039092	3,13003	2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53039092C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1631G>A	12.37:g.53039092C>T	ENSP00000310861:p.Arg544Gln						p.R544Q	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	8	1664	-			544			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1631G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396595	0.42512	4.54E-4	1.16E-4	ENSG00000172867	ENST00000309680	D	0.90955	-2.76	4.06	4.06	0.47325	.	.	.	.	.	T	0.81513	0.4838	N	0.08118	0	0.38928	D	0.957874	D	0.61080	0.989	P	0.45377	0.478	T	0.80612	-0.1305	9	0.13108	T	0.6	.	15.3543	0.74415	0.0:1.0:0.0:0.0	.	544	P35908	K22E_HUMAN	Q	544	ENSP00000310861:R544Q	ENSP00000310861:R544Q	R	-	2	0	KRT2	51325359	0.001000	0.12720	0.431000	0.26735	0.315000	0.28087	1.267000	0.33050	2.281000	0.76405	0.561000	0.74099	CGA		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
DCN	1634	broad.mit.edu	37	12	91552214	91552214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:91552214G>A	ENST00000052754.5	-	4	898	c.397C>T	c.(397-399)Cga>Tga	p.R133*	DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Nonsense_Mutation_p.R133*|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Nonsense_Mutation_p.R133*|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	133					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.R133*(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGATAAAGTCGTTCCAACTTC	0.408																																						uc001tbt.3																			1	Substitution - Nonsense(1)	p.R133*(2)	central_nervous_system(1)	central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(397-399)Cga>Tga		Homo sapiens decorin (DCN), transcript variant A2, mRNA.							131.0	127.0	128.0					12																	91552214		2203	4300	6503	SO:0001587	stop_gained	1634				organ morphogenesis	extracellular space		g.chr12:91552214G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.397C>T	12.37:g.91552214G>A	ENSP00000052754:p.Arg133*					DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Nonsense_Mutation_p.R133*	p.R133*	NM_133503	NP_598010	P07585	PGS2_HUMAN			3	651	-			133					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Nonsense_Mutation	SNP	ENST00000052754.5	37	c.397C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860018	0.91433	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563	.	.	.	5.69	1.07	0.20283	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.2272	0.73359	0.0:0.0:0.2263:0.7737	.	.	.	.	X	133	.	ENSP00000052754:R133X	R	-	1	2	DCN	90076345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.109000	0.31135	0.276000	0.22118	0.650000	0.86243	CGA		0.408	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
POLR3B	55703	broad.mit.edu	37	12	106824234	106824234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:106824234G>A	ENST00000228347.4	+	14	1669	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	POLR3B_ENST00000539066.1_Missense_Mutation_p.D425N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	483					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTCCTTCGGACACTCCTGA	0.522																																						uc001tlp.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1447-1449)Gac>Aac		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.							84.0	78.0	80.0					12																	106824234		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106824234G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1447G>A	12.37:g.106824234G>A	ENSP00000228347:p.Asp483Asn					POLR3B_uc001tlq.3_Missense_Mutation_p.D425N	p.D483N	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN			13	1669	+			483					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1447G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445693	0.96187	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.79141	-1.24;-1.24	5.56	5.56	0.83823	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92210	0.5775	10	0.87932	D	0	-29.4701	19.5257	0.95206	0.0:0.0:1.0:0.0	.	483	Q9NW08	RPC2_HUMAN	N	483;483;425	ENSP00000228347:D483N;ENSP00000445721:D425N	ENSP00000228347:D483N	D	+	1	0	POLR3B	105348364	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	9.429000	0.97481	2.589000	0.87451	0.655000	0.94253	GAC		0.522	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1921-1923)cCg>cTg		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							36.0	36.0	36.0					12																	130921520		2201	4298	6499	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921520G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1922C>T	12.37:g.130921520G>A	ENSP00000261655:p.Pro641Leu					RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	p.P641L	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	2138	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	641			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1922C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748029	0.30955	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.76;2.76	4.63	4.63	0.57726	.	0.136669	0.49916	D	0.000137	T	0.41673	0.1169	M	0.63843	1.955	0.80722	D	1	B;B;D	0.89917	0.063;0.428;1.0	B;B;D	0.64506	0.008;0.06;0.926	T	0.17167	-1.0378	10	0.29301	T	0.29	-13.3458	17.4987	0.87725	0.0:0.0:1.0:0.0	.	549;549;641	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	L	641;549;549;549	ENSP00000261655:P641L;ENSP00000440347:P549L;ENSP00000439159:P549L	ENSP00000261655:P641L	P	-	2	0	RIMBP2	129487473	1.000000	0.71417	0.910000	0.35882	0.048000	0.14542	5.301000	0.65727	2.121000	0.65114	0.561000	0.74099	CCG		0.711	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
PARP4	143	broad.mit.edu	37	13	25016086	25016086	+	Silent	SNP	A	A	G	rs113538547		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:25016086A>G	ENST00000381989.3	-	30	3669	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1188					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F1188F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413																																						uc001upl.3																			1	Substitution - coding silent(1)	p.F1188F(2)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3562-3564)ttT>ttC		Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.							42.0	45.0	44.0					13																	25016086		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25016086A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3564T>C	13.37:g.25016086A>G							p.F1188F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	29	3670	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1188					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.3564T>C	CCDS9307.1																																																																																				0.413	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
RB1	5925	broad.mit.edu	37	13	49030485	49030485	+	Splice_Site	SNP	G	G	C	rs483352690		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:49030485G>C	ENST00000267163.4	+	19	2098	c.1960G>C	c.(1960-1962)Gtg>Ctg	p.V654L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTATAAAAAAGGTTAGTAGAT	0.403		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		30	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|skin(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM034902|CS050405|CS081965|CS083261	RB1	M|S		c.e19+1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						53.0	51.0	51.0					13																	49030485		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030485G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1960+1G>C	13.37:g.49030485G>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.V654_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2126	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	654		V -> E (in RB).	Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1960_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854399	0.51270	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93019	-3.15	5.97	5.97	0.96955	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.216802	0.41097	D	0.000945	D	0.89842	0.6832	L	0.28115	0.83	0.52099	D	0.999941	B	0.31968	0.349	B	0.33799	0.17	D	0.86416	0.1751	10	0.27785	T	0.31	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	654	P06400	RB_HUMAN	L	633;654	ENSP00000267163:V654L	ENSP00000267163:V654L	V	+	1	0	RB1	47928486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.809000	0.69172	2.820000	0.97059	0.655000	0.94253	GTG		0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation
ADAM21P1	145241	broad.mit.edu	37	14	70713534	70713534	+	RNA	SNP	G	G	A	rs546315157	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:70713534G>A	ENST00000530196.1	-	0	984					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATTTGTTTCCGTTGAGAGAAA	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		23828	0.0		0.002	False		,,,				2504	0.0					uc010ttg.2																			0											c.(334-336)Cgg>Tgg		Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																																						145241							g.chr14:70713534G>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713534G>A							p.R112W							0	985	-									Missense_Mutation	SNP	ENST00000530196.1	37	c.334C>T																																																																																					0.358	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467	
RIN3	79890	broad.mit.edu	37	14	93118565	93118565	+	Missense_Mutation	SNP	G	G	A	rs145578489		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:93118565G>A	ENST00000216487.7	+	6	1330	c.1171G>A	c.(1171-1173)Gtt>Att	p.V391I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	391	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CAGACGCCGCGTTTCCGAGAG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		12188	0.0		0.0	False		,,,				2504	0.0					uc001yap.3																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1171-1173)Gtt>Att		Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.		G	ILE/VAL	12,4394	17.9+/-39.9	0,12,2191	37.0	39.0	38.0		1171	-8.2	0.0	14	dbSNP_134	38	1,8597	1.2+/-3.3	0,1,4298	yes	missense	RIN3	NM_024832.3	29	0,13,6489	AA,AG,GG		0.0116,0.2724,0.1	benign	391/986	93118565	13,12991	2203	4299	6502	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118565G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1171G>A	14.37:g.93118565G>A	ENSP00000216487:p.Val391Ile					RIN3_uc010auk.3_Missense_Mutation_p.V53I|RIN3_uc001yaq.3_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	p.V391I	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			5	1323	+		all_cancers(154;0.0701)	391			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1171G>A	CCDS32144.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.012	-1.654297	0.00779	0.002724	1.16E-4	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.05199	3.48	4.08	-8.16	0.01061	.	1.273530	0.06078	N	0.661334	T	0.01254	0.0041	N	0.00237	-1.79	0.19945	N	0.999949	B;B;B;B	0.23128	0.08;0.0;0.0;0.024	B;B;B;B	0.16722	0.016;0.0;0.0;0.004	T	0.49476	-0.8936	10	0.15066	T	0.55	-10.3308	7.5813	0.27965	0.4216:0.3115:0.2669:0.0	.	391;437;316;391	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	I	391;315	ENSP00000216487:V391I	ENSP00000216487:V391I	V	+	1	0	RIN3	92188318	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-2.702000	0.00823	-1.861000	0.01153	-1.800000	0.00619	GTT		0.667	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
RCOR1	23186	broad.mit.edu	37	14	103174815	103174815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:103174815C>G	ENST00000570597.1	+	6	665	c.665C>G	c.(664-666)tCt>tGt	p.S222C	RCOR1_ENST00000262241.6_Missense_Mutation_p.S225C			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	222	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAGATAAATCTATAGCAAGT	0.393																																						uc001ymb.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(664-666)tCt>tGt		Homo sapiens REST corepressor 1 (RCOR1), mRNA.							131.0	150.0	144.0					14																	103174815		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174815C>G	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.665C>G	14.37:g.103174815C>G	ENSP00000459789:p.Ser222Cys						p.S222C	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			5	902	+			222			Interaction with HDAC1.|SANT 1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.665C>G		.	.	.	.	.	.	.	.	.	.	C	25.4	4.632785	0.87660	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.052434	0.85682	D	0.000000	D	0.84497	0.5485	M	0.87971	2.92	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.86042	0.1520	9	0.72032	D	0.01	-17.8216	20.2279	0.98344	0.0:1.0:0.0:0.0	.	222	Q9UKL0	RCOR1_HUMAN	C	222	.	ENSP00000262241:S222C	S	+	2	0	RCOR1	102244568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.702000	0.68332	2.778000	0.95560	0.655000	0.94253	TCT		0.393	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	
JAG2	3714	broad.mit.edu	37	14	105617967	105617967	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:105617967G>A	ENST00000331782.3	-	8	1552	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	JAG2_ENST00000347004.2_Silent_p.A383A|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	383	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAAGGGCACAGGTGG	0.652																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1147-1149)gcC>gcT		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.							22.0	21.0	21.0					14																	105617967		2195	4298	6493	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105617967G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1149C>T	14.37:g.105617967G>A						JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.A383A	p.A383A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	7	1553	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	383			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.1149C>T	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
TMC3	342125	broad.mit.edu	37	15	81624852	81624852	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr15:81624852G>A	ENST00000359440.5	-	22	3346	c.3211C>T	c.(3211-3213)Ccg>Tcg	p.P1071S	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.P1072S|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGACCTCGGGAACCTGCCC	0.612																																						uc021ssk.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3211-3213)Ccg>Tcg		Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.							23.0	27.0	26.0					15																	81624852		2093	4226	6319	SO:0001583	missense	342125					integral to membrane		g.chr15:81624852G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3211C>T	15.37:g.81624852G>A	ENSP00000352413:p.Pro1071Ser					TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	p.P1071S	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			21	3211	-			1071						Missense_Mutation	SNP	ENST00000359440.5	37	c.3211C>T	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220545	0.39201	.	.	ENSG00000188869	ENST00000359440	T	0.64085	-0.08	5.2	0.964	0.19655	.	0.407073	0.17843	U	0.160132	T	0.42086	0.1187	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.23261	-1.0193	10	0.45353	T	0.12	-11.9835	3.1124	0.06363	0.1432:0.2566:0.4681:0.1322	.	1071	Q7Z5M5	TMC3_HUMAN	S	1071	ENSP00000352413:P1071S	ENSP00000352413:P1071S	P	-	1	0	TMC3	79411907	0.193000	0.23313	0.138000	0.22173	0.088000	0.18126	2.493000	0.45320	0.208000	0.20626	0.655000	0.94253	CCG		0.612	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
NPRL3	8131	broad.mit.edu	37	16	167362	167362	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:167362C>G	ENST00000399953.3	-	4	733	c.331G>C	c.(331-333)Gat>Cat	p.D111H	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	111					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GGGGAAGGATCTGTTTTGGAG	0.393																																						uc002cfr.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(331-333)Gat>Cat		Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.							58.0	56.0	56.0					16																	167362		1849	4085	5934	SO:0001583	missense	8131						protein binding	g.chr16:167362C>G		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.331G>C	16.37:g.167362C>G	ENSP00000382834:p.Asp111His					NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.D33H|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	p.D111H	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN			4	455	-			111					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.331G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645748	0.87958	.	.	ENSG00000103148	ENST00000399953;ENST00000419636	.	.	.	5.37	5.37	0.77165	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.979;0.999	T	0.81373	-0.0962	8	0.56958	D	0.05	-3.7903	18.4759	0.90792	0.0:1.0:0.0:0.0	.	33;111	B7Z220;Q12980	.;NPRL3_HUMAN	H	111;124	.	ENSP00000382834:D111H	D	-	1	0	NPRL3	107362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.689000	0.84165	2.673000	0.90976	0.655000	0.94253	GAT		0.393	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476	
SLC6A10P	386757	broad.mit.edu	37	16	32890954	32890954	+	RNA	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:32890954C>A	ENST00000330048.5	-	0	3012					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCCAGACCACCACCACGCAC	0.632																																						uc002edh.1																			0											c.(100-102)Gtg>Ttg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																																						386757							g.chr16:32890954C>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890954C>A						SLC6A10P_uc002edi.1_Non-coding_Transcript	p.V34L							2	276	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.100G>T																																																																																					0.632	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2		
CX3CL1	6376	broad.mit.edu	37	16	57416501	57416501	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:57416501G>A	ENST00000006053.6	+	3	862	c.751G>A	c.(751-753)Gga>Aga	p.G251R	CX3CL1_ENST00000565912.1_Missense_Mutation_p.G213R|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G257R	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	251	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGGGGTCAGGGACAGAGCCC	0.692																																						uc002eli.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(751-753)Gga>Aga		Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.							35.0	40.0	39.0					16																	57416501		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416501G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.751G>A	16.37:g.57416501G>A	ENSP00000006053:p.Gly251Arg						p.G251R	NM_002996	NP_002987	P78423	X3CL1_HUMAN			2	818	+			251			Mucin-like stalk.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.751G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510062	0.27036	.	.	ENSG00000006210	ENST00000006053	T	0.04809	3.55	4.23	3.26	0.37387	.	3.482270	0.02239	U	0.065559	T	0.04815	0.0130	L	0.27053	0.805	0.09310	N	1	P	0.36616	0.561	B	0.27500	0.08	T	0.38200	-0.9672	10	0.87932	D	0	-15.0125	8.2808	0.31900	0.1139:0.0:0.8861:0.0	.	251	P78423	X3CL1_HUMAN	R	251	ENSP00000006053:G251R	ENSP00000006053:G251R	G	+	1	0	CX3CL1	55974002	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	1.234000	0.32660	0.871000	0.35750	0.558000	0.71614	GGA		0.692	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996	
SCN4A	6329	broad.mit.edu	37	17	62018566	62018566	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:62018566C>T	ENST00000435607.1	-	24	5152	c.5076G>A	c.(5074-5076)ggG>ggA	p.G1692G	SCN4A_ENST00000578147.1_Silent_p.G1692G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1692					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTCCATTTCCCCAGAGTCAC	0.577																																						uc002jds.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5074-5076)ggG>ggA		Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	Lamotrigine(DB00555)						128.0	124.0	125.0					17																	62018566		2081	4211	6292	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018566C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5076G>A	17.37:g.62018566C>T							p.G1692G	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	5153	-			1692					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5076G>A	CCDS45761.1																																																																																				0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:73745120G>A	ENST00000200181.3	+	27	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_ENST00000339591.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000579662.1_Missense_Mutation_p.D1104N|ITGB4_ENST00000450894.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1104N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1104					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617																																						uc002jpg.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3310-3312)Gac>Aac		Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.							20.0	23.0	22.0					17																	73745120		2202	4298	6500	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745120G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3310G>A	17.37:g.73745120G>A	ENSP00000200181:p.Asp1104Asn					ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	3497	+	all_cancers(13;1.5e-07)		1104					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3310G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686922	0.29962	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.34275	1.37;1.37;1.37	5.24	4.06	0.47325	.	0.202568	0.40302	N	0.001140	T	0.25082	0.0609	N	0.14661	0.345	0.46241	D	0.998941	P;P;P	0.43788	0.817;0.722;0.586	B;B;B	0.41299	0.353;0.193;0.193	T	0.13899	-1.0492	10	0.59425	D	0.04	.	14.7111	0.69232	0.082:0.0:0.918:0.0	.	1104;1104;1104	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	N	1104	ENSP00000200181:D1104N;ENSP00000344079:D1104N;ENSP00000400217:D1104N	ENSP00000200181:D1104N	D	+	1	0	ITGB4	71256715	1.000000	0.71417	0.871000	0.34182	0.194000	0.23727	2.840000	0.48215	2.458000	0.83093	0.650000	0.86243	GAC		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
PRKCSH	5589	broad.mit.edu	37	19	11559895	11559895	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:11559895T>C	ENST00000589838.1	+	15	1345	c.1345T>C	c.(1345-1347)Tgg>Cgg	p.W449R	PRKCSH_ENST00000587327.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.W456R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.W446R|PRKCSH_ENST00000252455.2_Missense_Mutation_p.W449R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	449	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCACAGCACCTGGGGCTCATG	0.662																																						uc010xlz.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1366-1368)Tgg>Cgg		Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.							51.0	53.0	52.0					19																	11559895		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559895T>C		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1345T>C	19.37:g.11559895T>C	ENSP00000465461:p.Trp449Arg					PRKCSH_uc002mrt.3_Missense_Mutation_p.W449R|PRKCSH_uc002mru.3_Missense_Mutation_p.W446R|PRKCSH_uc010dyb.3_Missense_Mutation_p.W446R	p.W456R	NM_002743	NP_002734	P14314	GLU2B_HUMAN			15	1702	+			449			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1366T>C	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019597	0.35606	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.81247	-1.47;-1.47	4.67	2.54	0.30619	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;1.0	D;D;D;D	0.87578	0.998;0.998;0.945;0.997	D	0.86199	0.1617	10	0.87932	D	0	-15.8327	5.8542	0.18710	0.1475:0.0843:0.0:0.7682	.	456;456;446;449	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	R	449;446	ENSP00000252455:W449R;ENSP00000395616:W446R	ENSP00000252455:W449R	W	+	1	0	PRKCSH	11420895	1.000000	0.71417	0.907000	0.35723	0.013000	0.08279	7.084000	0.76866	0.168000	0.19655	-0.256000	0.11100	TGG		0.662	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:33695616A>C	ENST00000253193.7	+	4	535	c.333A>C	c.(331-333)ccA>ccC	p.P111P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.P111P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662																																						uc010edh.3																			1	Substitution - coding silent(1)	p.P111P(2)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(331-333)ccA>ccC		Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.							56.0	59.0	58.0					19																	33695616		2203	4299	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695616A>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.333A>C	19.37:g.33695616A>C						LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	p.P111P	NM_002333	NP_002324	O75074	LRP3_HUMAN			3	426	+	Esophageal squamous(110;0.137)		111			CUB 1.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.333A>C	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
BCKDHA	593	broad.mit.edu	37	19	41932546	41932546	+	IGR	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:41932546C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.T46T|B3GNT8_ENST00000601379.1_Intron|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGTTGGCTGGCGTGGGGCTTG	0.662																																						uc002oqs.3																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(136-138)acG>acA		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.							31.0	29.0	30.0					19																	41932546		2203	4297	6500	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932546C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932546C>T						B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Silent_p.T46T	p.T46T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			2	592	-			46					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.138G>A	CCDS12581.1																																																																																				0.662	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709	
TRAPPC12	51112	broad.mit.edu	37	2	3392024	3392024	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:3392024C>T	ENST00000324266.5	+	2	825	c.630C>T	c.(628-630)ttC>ttT	p.F210F	TRAPPC12_ENST00000382110.2_Silent_p.F210F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	210					vesicle-mediated transport (GO:0016192)												GCACGTTCTTCGGAGACACGG	0.677																																						uc002qxm.1																			0											c.(628-630)ttC>ttT		Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.							32.0	38.0	36.0					2																	3392024		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392024C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.630C>T	2.37:g.3392024C>T						TRAPPC12_uc002qxn.1_Silent_p.F210F|TRAPPC12_uc010ewm.1_Silent_p.F210F	p.F210F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN			1	836	+			210					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.630C>T	CCDS1652.1																																																																																				0.677	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
GREB1	9687	broad.mit.edu	37	2	11706613	11706613	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:11706613C>T	ENST00000381486.2	+	4	585	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GREB1_ENST00000381483.2_Silent_p.C95C|GREB1_ENST00000234142.5_Silent_p.C95C|GREB1_ENST00000263834.5_Silent_p.C95C|GREB1_ENST00000389825.3_5'UTR	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	95						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TAGGGTTTTGCCAGGCCGGGA	0.642																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(283-285)tgC>tgT		Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.							47.0	47.0	47.0					2																	11706613		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11706613C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.285C>T	2.37:g.11706613C>T						GREB1_uc002rbl.3_Silent_p.C95C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	p.C95C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	3	585	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		95					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.285C>T	CCDS42655.1																																																																																				0.642	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
BUB1	699	broad.mit.edu	37	2	111408233	111408233	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:111408233C>T	ENST00000302759.6	-	18	2211	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	BUB1_ENST00000535254.1_Missense_Mutation_p.C678Y|BUB1_ENST00000409311.1_Missense_Mutation_p.C698Y	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	698					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTGAGTCTGCAAGCCTCAAC	0.532																																						uc002tgc.3																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2092-2094)tGc>tAc		Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.							106.0	76.0	86.0					2																	111408233		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111408233C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2093G>A	2.37:g.111408233C>T	ENSP00000302530:p.Cys698Tyr					BUB1_uc010yxh.2_Missense_Mutation_p.C678Y|BUB1_uc010fkb.3_Missense_Mutation_p.C698Y	p.C698Y	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	17	2205	-		Ovarian(717;0.0822)	698					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2093G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	2.809	-0.247304	0.05867	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.31510	2.24;1.49;2.5	5.18	2.62	0.31277	.	0.422043	0.30210	N	0.010152	T	0.20007	0.0481	L	0.55481	1.735	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.11329	0.006;0.004;0.004	T	0.37314	-0.9711	10	0.02654	T	1	-1.0035	4.4399	0.11568	0.1846:0.6464:0.0:0.169	.	678;698;698	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Y	678;698;698;698	ENSP00000441013:C678Y;ENSP00000386701:C698Y;ENSP00000302530:C698Y	ENSP00000302530:C698Y	C	-	2	0	BUB1	111124705	0.429000	0.25530	0.005000	0.12908	0.077000	0.17291	0.633000	0.24598	0.397000	0.25310	0.650000	0.86243	TGC		0.532	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
SCN9A	6335	broad.mit.edu	37	2	167055444	167055444	+	Missense_Mutation	SNP	C	C	G	rs180949263		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:167055444C>G	ENST00000409435.1	-	26	5704	c.5705G>C	c.(5704-5706)cGt>cCt	p.R1902P	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1903P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1903P|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1891P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1902	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGCGGTAACGTCTATAAGC	0.363																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5671-5673)cGt>cCt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						165.0	171.0	169.0					2																	167055444		2161	4280	6441	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055444C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5705G>C	2.37:g.167055444C>G	ENSP00000386330:p.Arg1902Pro					BC051759_uc002udp.3_Intron	p.R1891P	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	6013	-			1902			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5672G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172160	0.38315	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96491	-4.0;-4.03;-4.03;-4.03	6.08	3.34	0.38264	.	0.183937	0.39544	N	0.001334	D	0.95872	0.8656	M	0.66939	2.045	0.42059	D	0.991154	P	0.46912	0.886	P	0.49637	0.617	D	0.94942	0.8092	10	0.62326	D	0.03	.	10.3652	0.44019	0.0:0.7962:0.0:0.2038	.	1891	E7EUN6	.	P	1891;1903;1903;1902	ENSP00000386306:R1891P;ENSP00000364536:R1903P;ENSP00000304748:R1903P;ENSP00000386330:R1902P	ENSP00000304748:R1903P	R	-	2	0	SCN9A	166763690	0.000000	0.05858	0.998000	0.56505	0.610000	0.37248	-0.006000	0.12833	0.928000	0.37168	-0.186000	0.12905	CGT		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
COL3A1	1281	broad.mit.edu	37	2	189868848	189868848	+	Silent	SNP	G	G	A	rs113870310	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:189868848G>A	ENST00000304636.3	+	39	2972	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S934S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGAAGGGATCGCCTGGTGCCC	0.488													g|||	2	0.000399361	0.0	0.0	5008	,	,		14549	0.0		0.002	False		,,,				2504	0.0					uc002uqj.1																			1	Substitution - coding silent(1)	p.S934S(2)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2800-2802)tcG>tcA		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						31.0	36.0	34.0					2																	189868848		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868848G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2802G>A	2.37:g.189868848G>A							p.S934S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		38	2919	+			934			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.2802G>A	CCDS2297.1																																																																																				0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
NBEAL1	65065	broad.mit.edu	37	2	204037528	204037528	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:204037528A>G	ENST00000449802.1	+	40	6521	c.6188A>G	c.(6187-6189)aAa>aGa	p.K2063R		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2063	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATCTTTCCAAACCAATTGGG	0.328																																						uc002uzt.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6187-6189)aAa>aGa		Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.							133.0	125.0	127.0					2																	204037528		1800	4070	5870	SO:0001583	missense	65065						binding	g.chr2:204037528A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6188A>G	2.37:g.204037528A>G	ENSP00000399903:p.Lys2063Arg					NBEAL1_uc021vvj.1_Missense_Mutation_p.K766R	p.K2063R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			39	6521	+			2063			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6188A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999443	0.93227	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.82433	-1.61;-1.61	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.90396	0.4399	10	0.66056	D	0.02	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	2063;2052	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	R	2063;2063;78	ENSP00000399903:K2063R;ENSP00000388466:K78R	ENSP00000344985:K2063R	K	+	2	0	NBEAL1	203745773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	AAA		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
SIRPA	140885	broad.mit.edu	37	20	1895993	1895993	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr20:1895993A>G	ENST00000358771.4	+	2	480	c.328A>G	c.(328-330)Aac>Gac	p.N110D	SIRPA_ENST00000356025.3_Missense_Mutation_p.N110D|SIRPA_ENST00000400068.3_Missense_Mutation_p.N110D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	110	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCGCATCGGTAACATCACCCC	0.502																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(328-330)Aac>Gac		Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.							142.0	118.0	126.0					20																	1895993		2203	4294	6497	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895993A>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.328A>G	20.37:g.1895993A>G	ENSP00000351621:p.Asn110Asp					SIRPA_uc010zps.2_Missense_Mutation_p.N90D|SIRPA_uc002wfr.3_Missense_Mutation_p.N110D|SIRPA_uc002wfs.3_Missense_Mutation_p.N110D|SIRPA_uc002wft.3_Missense_Mutation_p.N110D	p.N110D	NM_001040022	NP_542970	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	688	+			110			Ig-like V-type.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.328A>G	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825884	0.32237	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.65916	-0.18;-0.18;-0.18	5.11	1.37	0.22104	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169933	0.41396	N	0.000894	T	0.49167	0.1541	L	0.49699	1.58	0.38396	D	0.945544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.19946	0.016;0.005;0.027	T	0.42327	-0.9458	10	0.45353	T	0.12	.	3.8036	0.08768	0.5976:0.1867:0.2157:0.0	.	90;110;110	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	110	ENSP00000382941:N110D;ENSP00000348307:N110D;ENSP00000351621:N110D	ENSP00000348307:N110D	N	+	1	0	SIRPA	1843993	0.443000	0.25641	0.995000	0.50966	0.705000	0.40729	0.426000	0.21363	0.431000	0.26258	0.454000	0.30748	AAC		0.502	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	
FGD5	152273	broad.mit.edu	37	3	14960268	14960268	+	Missense_Mutation	SNP	G	G	A	rs536923009		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:14960268G>A	ENST00000285046.5	+	13	3607	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.R925H|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1166	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTCAGCCGCCCTGTGATG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0					uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3496-3498)cGc>cAc		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							87.0	86.0	86.0					3																	14960268		2008	4167	6175	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14960268G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3497G>A	3.37:g.14960268G>A	ENSP00000285046:p.Arg1166His					FGD5_uc011avk.2_Missense_Mutation_p.R1166H|FGD5_uc003bzd.3_Missense_Mutation_p.R244H	p.R1166H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			12	3607	+			1166			PH 1.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3497G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849338	0.71603	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75821	-0.97;-0.97	3.86	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.281795	0.25436	N	0.030693	T	0.81138	0.4760	L	0.54323	1.7	0.47949	D	0.999552	D;D	0.89917	0.998;1.0	P;D	0.65443	0.876;0.935	T	0.82938	-0.0209	10	0.72032	D	0.01	-24.6711	12.6537	0.56776	0.0:0.0:1.0:0.0	.	925;1166	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	1166;925	ENSP00000285046:R1166H;ENSP00000445949:R925H	ENSP00000285046:R1166H	R	+	2	0	FGD5	14935272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	1.988000	0.58038	0.591000	0.81541	CGC		0.602	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
OR5AC2	81050	broad.mit.edu	37	3	97806681	97806681	+	Missense_Mutation	SNP	G	G	A	rs200290395		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:97806681G>A	ENST00000358642.2	+	1	665	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	222					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTATACTCGTGTGCTCTTT	0.373																																						uc011bgs.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(664-666)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.							37.0	38.0	38.0					3																	97806681		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806681G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.665G>A	3.37:g.97806681G>A	ENSP00000351466:p.Arg222His						p.R222H	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			0	665	+			222						Missense_Mutation	SNP	ENST00000358642.2	37	c.665G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758057	0.49468	.	.	ENSG00000196578	ENST00000358642	T	0.00107	8.72	4.42	-6.27	0.02026	GPCR, rhodopsin-like superfamily (1);	2.231340	0.02412	U	0.081750	T	0.00073	0.0002	N	0.04724	-0.175	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.39482	-0.9612	10	0.66056	D	0.02	1.6995	0.6556	0.00834	0.2262:0.2056:0.1583:0.41	.	222	Q9NZP5	O5AC2_HUMAN	H	222	ENSP00000351466:R222H	ENSP00000351466:R222H	R	+	2	0	OR5AC2	99289371	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-5.596000	0.00111	-0.786000	0.04516	0.523000	0.50628	CGT		0.373	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1		
DTX3L	151636	broad.mit.edu	37	3	122289489	122289489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:122289489A>G	ENST00000296161.4	+	4	2312	c.2123A>G	c.(2122-2124)cAc>cGc	p.H708R	DTX3L_ENST00000383661.3_Missense_Mutation_p.H196R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	708					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATATTCACCACAAAACATCC	0.423																																						uc003efk.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2122-2124)cAc>cGc		Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.							108.0	106.0	107.0					3																	122289489		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289489A>G		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2123A>G	3.37:g.122289489A>G	ENSP00000296161:p.His708Arg					DTX3L_uc010hrj.3_Missense_Mutation_p.H196R|DTX3L_uc021xdb.1_3'UTR	p.H708R	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	2212	+			708					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.2123A>G	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642725	0.87859	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50277	0.75;0.75	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000035	T	0.77157	0.4089	H	0.95114	3.625	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84303	0.0506	10	0.87932	D	0	-12.5689	13.7979	0.63182	1.0:0.0:0.0:0.0	.	196;708	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	R	708;196	ENSP00000296161:H708R;ENSP00000373157:H196R	ENSP00000296161:H708R	H	+	2	0	DTX3L	123772179	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.096000	0.94182	2.131000	0.65755	0.459000	0.35465	CAC		0.423	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287	
PDGFRA	5156	broad.mit.edu	37	4	55156661	55156661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:55156661C>T	ENST00000257290.5	+	22	3393	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P781L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1021					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACATCATTCCTCTGCCTGAC	0.562			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3061-3063)cCt>cTt		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						160.0	134.0	143.0					4																	55156661		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156661C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3062C>T	4.37:g.55156661C>T	ENSP00000257290:p.Pro1021Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.P781L	p.P1021L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		21	3393	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1021					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3062C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927926	0.92389	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78246	-1.16;-0.99	5.93	5.93	0.95920	.	0.000000	0.31949	U	0.006811	D	0.88062	0.6336	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87967	0.2734	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1021	P16234	PGFRA_HUMAN	L	781;1021	ENSP00000423325:P781L;ENSP00000257290:P1021L	ENSP00000423325:P781L	P	+	2	0	FIP1L1;PDGFRA	54851418	1.000000	0.71417	0.970000	0.41538	0.659000	0.38960	7.358000	0.79466	2.814000	0.96858	0.563000	0.77884	CCT		0.562	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
FSTL5	56884	broad.mit.edu	37	4	162697175	162697175	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:162697175T>C	ENST00000306100.5	-	5	897	c.461A>G	c.(460-462)gAt>gGt	p.D154G	FSTL5_ENST00000536695.1_Missense_Mutation_p.D153G|FSTL5_ENST00000427802.2_Missense_Mutation_p.D153G|FSTL5_ENST00000379164.4_Missense_Mutation_p.D153G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	154						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTTGTAAATCTAATAGCAT	0.279																																						uc003iqh.3																			0		p.L153S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(460-462)gAt>gGt		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							53.0	52.0	53.0					4																	162697175		2200	4293	6493	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697175T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.461A>G	4.37:g.162697175T>C	ENSP00000305334:p.Asp154Gly					FSTL5_uc003iqi.3_Missense_Mutation_p.D153G|FSTL5_uc010iqv.3_Missense_Mutation_p.D153G	p.D154G	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	897	-	all_hematologic(180;0.24)		154					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.461A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736842	0.30774	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74209	-0.8;-0.78;-0.82;-0.78	5.3	4.12	0.48240	.	0.093823	0.64402	N	0.000001	T	0.79598	0.4473	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.979;0.993	P;P;P	0.57620	0.824;0.652;0.628	T	0.76269	-0.3021	10	0.24483	T	0.36	.	10.3219	0.43771	0.0:0.0775:0.0:0.9225	.	153;153;154	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	G	154;153;153;153	ENSP00000305334:D154G;ENSP00000368462:D153G;ENSP00000389270:D153G;ENSP00000440409:D153G	ENSP00000305334:D154G	D	-	2	0	FSTL5	162916625	1.000000	0.71417	0.999000	0.59377	0.035000	0.12851	6.134000	0.71689	0.959000	0.37980	0.528000	0.53228	GAT		0.279	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
CHSY3	337876	broad.mit.edu	37	5	129243856	129243856	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:129243856C>G	ENST00000305031.4	+	2	1247	c.889C>G	c.(889-891)Ctt>Gtt	p.L297V	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	297					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATTGAAGAGCTTGGAAAGCT	0.473																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(889-891)Ctt>Gtt		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							87.0	88.0	88.0					5																	129243856		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129243856C>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.889C>G	5.37:g.129243856C>G	ENSP00000302629:p.Leu297Val						p.L297V	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	889	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	297					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.889C>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101888	0.37048	.	.	ENSG00000198108	ENST00000305031	D	0.84800	-1.9	4.33	3.46	0.39613	.	0.000000	0.33691	N	0.004648	T	0.73544	0.3600	N	0.17312	0.475	0.46678	D	0.99915	B	0.34161	0.439	B	0.33521	0.165	T	0.70468	-0.4863	9	.	.	.	.	14.6624	0.68882	0.1468:0.8532:0.0:0.0	.	297	Q70JA7	CHSS3_HUMAN	V	297	ENSP00000302629:L297V	.	L	+	1	0	CHSY3	129271755	0.994000	0.37717	0.995000	0.50966	0.986000	0.74619	1.189000	0.32114	1.400000	0.46741	0.591000	0.81541	CTT		0.473	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
SLIT3	6586	broad.mit.edu	37	5	168175347	168175347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:168175347G>A	ENST00000519560.1	-	20	2649	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	SLIT3_ENST00000332966.8_Missense_Mutation_p.R744C|SLIT3_ENST00000404867.3_Missense_Mutation_p.R744C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	744	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R744S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGAGGGCGCGGAGCCCCTTG	0.632																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.R744S(2)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2230-2232)Cgc>Tgc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							86.0	86.0	86.0					5																	168175347		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175347G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2230C>T	5.37:g.168175347G>A	ENSP00000430333:p.Arg744Cys					SLIT3_uc003mab.3_Missense_Mutation_p.R744C	p.R744C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2650	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	744			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2230C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	g	18.27	3.586246	0.66105	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.96459	-4.02;-4.02;-4.02	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.439088	0.25851	N	0.027892	D	0.97501	0.9182	M	0.80982	2.52	0.37083	D	0.899081	D	0.65815	0.995	P	0.58970	0.849	D	0.99926	1.1289	10	0.87932	D	0	.	13.9178	0.63911	0.0:0.0:0.848:0.152	.	744	O75094	SLIT3_HUMAN	C	744	ENSP00000430333:R744C;ENSP00000332164:R744C;ENSP00000384890:R744C	ENSP00000332164:R744C	R	-	1	0	SLIT3	168107925	0.011000	0.17503	0.921000	0.36526	0.680000	0.39746	1.456000	0.35201	2.483000	0.83821	0.550000	0.68814	CGC		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
PSORS1C1	170679	broad.mit.edu	37	6	31106528	31106528	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:31106528T>C	ENST00000259881.9	+	5	428	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_5'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	47										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGACCGACTTTGCCACATGGA	0.557																																						uc003nsl.2																			0				kidney(1)|ovary(2)|prostate(1)|skin(1)	5						c.(139-141)Tgc>Cgc		Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.							155.0	152.0	153.0					6																	31106528		1511	2709	4220	SO:0001583	missense	170679							g.chr6:31106528T>C	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.139T>C	6.37:g.31106528T>C	ENSP00000259881:p.Cys47Arg					PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	p.C47R	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN			4	428	+			47					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.139T>C	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	T	9.787	1.176955	0.21787	.	.	ENSG00000204540	ENST00000259881	T	0.15487	2.42	3.22	-6.45	0.01914	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48811	-0.9002	9	0.87932	D	0	.	4.2471	0.10677	0.166:0.2818:0.0:0.5522	.	47	Q9UIG5	PS1C1_HUMAN	R	47	ENSP00000259881:C47R	ENSP00000259881:C47R	C	+	1	0	PSORS1C1	31214507	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.950000	0.01530	-0.758000	0.04690	-0.781000	0.03364	TGC		0.557	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
MRAP2	112609	broad.mit.edu	37	6	84799086	84799086	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:84799086C>A	ENST00000257776.4	+	4	639	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	168					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACATCCCCAACTTTGTGAACA	0.502																																						uc003pkg.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(502-504)aaC>aaA		Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.							121.0	121.0	121.0					6																	84799086		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799086C>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.504C>A	6.37:g.84799086C>A	ENSP00000257776:p.Asn168Lys					MRAP2_uc010kbo.3_Missense_Mutation_p.N82K	p.N168K	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	694	+			168					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.504C>A	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640950	0.87859	.	.	ENSG00000135324	ENST00000257776	D	0.88124	-2.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	D	0.91135	0.4941	10	0.87932	D	0	-1.4142	19.3838	0.94548	0.0:1.0:0.0:0.0	.	168	Q96G30	MRAP2_HUMAN	K	168	ENSP00000257776:N168K	ENSP00000257776:N168K	N	+	3	2	MRAP2	84855805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.821000	0.39041	2.670000	0.90874	0.655000	0.94253	AAC		0.502	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409	
ULBP1	80329	broad.mit.edu	37	6	150291168	150291168	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:150291168C>T	ENST00000229708.3	+	4	685	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	214					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.A214A(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTCTCTGGCCCCAGGCACAA	0.562																																						uc003qnp.3																			1	Substitution - coding silent(1)	p.A214A(2)	lung(1)	large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(640-642)gcC>gcT		Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.							122.0	100.0	107.0					6																	150291168		2203	4300	6503	SO:0001819	synonymous_variant	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150291168C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.642C>T	6.37:g.150291168C>T							p.A214A	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	3	685	+		Ovarian(120;0.0907)	214					Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	ENST00000229708.3	37	c.642C>T	CCDS5223.1																																																																																				0.562	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
PACRG	135138	broad.mit.edu	37	6	163235289	163235289	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:163235289G>A	ENST00000337019.3	+	3	491	c.267G>A	c.(265-267)tcG>tcA	p.S89S	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Silent_p.S89S|PACRG_ENST00000366889.2_Silent_p.S89S	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	89					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AGCATGATTCGAAAGGAAACA	0.517																																						uc003qua.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(265-267)tcG>tcA		Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.							98.0	98.0	98.0					6																	163235289		2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163235289G>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.267G>A	6.37:g.163235289G>A						PACRG_uc003qub.3_Silent_p.S89S|PACRG_uc003quc.3_Silent_p.S89S	p.S89S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	2	491	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	89					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.267G>A	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917307	0.17982	.	.	ENSG00000112530	ENST00000534958	.	.	.	5.52	-1.78	0.07957	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-10.6882	3.038	0.06128	0.3465:0.3351:0.229:0.0893	.	.	.	.	K	5	.	.	E	+	1	0	PACRG	163155279	0.017000	0.18338	1.000000	0.80357	0.995000	0.86356	-0.854000	0.04299	-0.252000	0.09528	-0.222000	0.12452	GAA		0.517	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
NPSR1	387129	broad.mit.edu	37	7	34698051	34698051	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:34698051C>A	ENST00000360581.1	+	1	155	c.27C>A	c.(25-27)agC>agA	p.S9R	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.S9R|NPSR1_ENST00000381553.3_Missense_Mutation_p.S9R|NPSR1_ENST00000531252.1_Missense_Mutation_p.S9R|NPSR1_ENST00000465305.1_Missense_Mutation_p.S9R|NPSR1_ENST00000381539.3_Missense_Mutation_p.S9R|NPSR1_ENST00000359791.1_Missense_Mutation_p.S9R|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAGGGCAGCTTCGATTCCA	0.572																																						uc003teh.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(25-27)agC>agA		Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	Halothane(DB01159)						104.0	91.0	95.0					7																	34698051		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698051C>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.27C>A	7.37:g.34698051C>A	ENSP00000353788:p.Ser9Arg					NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S9R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S9R|NPSR1_uc003tei.1_Missense_Mutation_p.S9R|NPSR1_uc010kww.1_Missense_Mutation_p.S9R|NPSR1_uc011kar.1_Missense_Mutation_p.S9R	p.S9R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN			0	155	+			9					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.27C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801707	0.50315	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.53	4.53	0.55603	.	0.534882	0.18708	N	0.133383	T	0.27313	0.0670	L	0.27053	0.805	0.35490	D	0.798917	P;P;P;P;P;B	0.44429	0.718;0.835;0.703;0.835;0.703;0.392	B;P;B;P;B;B	0.44561	0.298;0.453;0.318;0.453;0.318;0.134	T	0.37572	-0.9700	10	0.72032	D	0.01	-19.9121	12.9527	0.58409	0.0:1.0:0.0:0.0	.	9;9;9;9;9;9	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	R	9	ENSP00000370965:S9R;ENSP00000434955:S9R;ENSP00000353788:S9R;ENSP00000370953:S9R;ENSP00000352839:S9R;ENSP00000433258:S9R;ENSP00000370950:S9R	ENSP00000352839:S9R	S	+	3	2	NPSR1	34664576	0.801000	0.28930	0.891000	0.34965	0.281000	0.26958	1.833000	0.39161	2.499000	0.84300	0.655000	0.94253	AGC		0.572	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
WBSCR17	64409	broad.mit.edu	37	7	70597924	70597924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:70597924G>A	ENST00000333538.5	+	1	770	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	46					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCGCGCGCCGAGGTGGC	0.677																																						uc003tvy.3																			0		p.R45H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(136-138)Gcc>Acc		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							26.0	27.0	26.0					7																	70597924		2196	4292	6488	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597924G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.136G>A	7.37:g.70597924G>A	ENSP00000329654:p.Ala46Thr						p.A46T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			0	136	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	46					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.136G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860927	0.71834	.	.	ENSG00000185274	ENST00000333538	T	0.55052	0.54	4.72	4.72	0.59763	.	0.560500	0.16105	N	0.229375	T	0.56441	0.1985	N	0.22421	0.69	0.43761	D	0.996272	D	0.76494	0.999	D	0.68621	0.959	T	0.44421	-0.9329	10	0.11182	T	0.66	.	16.8419	0.85971	0.0:0.0:1.0:0.0	.	46	Q6IS24	GLTL3_HUMAN	T	46	ENSP00000329654:A46T	ENSP00000329654:A46T	A	+	1	0	WBSCR17	70235860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.674000	0.54598	2.448000	0.82819	0.467000	0.42956	GCC		0.677	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
SSC4D	136853	broad.mit.edu	37	7	76033702	76033702	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:76033702C>T	ENST00000275560.3	-	2	402	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AACCTCCACCCCCAGCGCTTC	0.597																																						uc003ufb.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(55-57)Ggg>Agg		Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.							126.0	116.0	119.0					7																	76033702		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033702C>T																												ENST00000275560.3:c.55G>A	7.37:g.76033702C>T	ENSP00000275560:p.Gly19Arg					ZP3_uc003ufc.4_Intron	p.G19R	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			1	403	-			19						Missense_Mutation	SNP	ENST00000275560.3	37	c.55G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672434	0.29693	.	.	ENSG00000146700	ENST00000275560	T	0.01215	5.16	4.99	3.16	0.36331	.	0.714189	0.12756	N	0.441758	T	0.01835	0.0058	L	0.56769	1.78	0.23978	N	0.996286	B	0.29085	0.232	B	0.35607	0.206	T	0.45425	-0.9262	10	0.20519	T	0.43	.	6.506	0.22196	0.1781:0.7301:0.0:0.0918	.	19	Q8WTU2	SRB4D_HUMAN	R	19	ENSP00000275560:G19R	ENSP00000275560:G19R	G	-	1	0	SRCRB4D	75871638	0.103000	0.21917	0.163000	0.22734	0.684000	0.39900	2.056000	0.41355	0.810000	0.34279	-0.328000	0.08392	GGG		0.597	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
RELN	5649	broad.mit.edu	37	7	103417022	103417022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:103417022G>A	ENST00000428762.1	-	4	685	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Q176*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Q176*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	176	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACACAACTGCTGGGCTAAA	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(526-528)Cag>Tag		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							129.0	121.0	124.0					7																	103417022		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103417022G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.526C>T	7.37:g.103417022G>A	ENSP00000392423:p.Gln176*					RELN_uc022ajq.1_Nonsense_Mutation_p.Q176*|RELN_uc010liz.3_Nonsense_Mutation_p.Q176*	p.Q176*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	686	-			176			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.526C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	39	7.875216	0.98537	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.121	0.93364	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000345694:Q176X	Q	-	1	0	RELN	103204258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.038000	0.88943	2.814000	0.96858	0.591000	0.81541	CAG		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:117432019G>T	ENST00000160373.3	-	4	1322	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1231-1233)Caa>Aaa		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							199.0	177.0	185.0					7																	117432019		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432019G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1231C>A	7.37:g.117432019G>T	ENSP00000160373:p.Gln411Lys						p.Q411K	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	1323	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		411			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1231C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.770025	0.00081	.	.	ENSG00000077063	ENST00000160373	T	0.63744	-0.06	4.52	4.52	0.55395	.	0.571274	0.16235	N	0.223406	T	0.56645	0.1999	M	0.75447	2.3	0.09310	N	1	B	0.24368	0.102	B	0.21360	0.034	T	0.43261	-0.9402	10	0.19147	T	0.46	-3.2383	7.4765	0.27378	0.0879:0.0:0.7447:0.1674	.	411	Q8WZ74	CTTB2_HUMAN	K	411	ENSP00000160373:Q411K	ENSP00000160373:Q411K	Q	-	1	0	CTTNBP2	117219255	0.991000	0.36638	0.096000	0.21009	0.012000	0.07955	2.855000	0.48333	2.500000	0.84329	0.460000	0.39030	CAA		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
GALT	2592	broad.mit.edu	37	9	34648454	34648454	+	Splice_Site	SNP	G	G	A	rs193922250		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:34648454G>A	ENST00000378842.3	+	7	729		c.e7+1		GALT_ENST00000450095.2_Splice_Site|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000556278.1_Splice_Site	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACTCAGGAAGGTGGGAGAGAG	0.532									Galactosemia																													uc003zve.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.e7+1		Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.							64.0	68.0	67.0					9																	34648454		2203	4300	6503	SO:0001630	splice_region_variant	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648454G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.687+1G>A	9.37:g.34648454G>A						GALT_uc003zvf.3_Splice_Site_p.K120_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.3_5'Flank	p.K229_splice	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	7	754	+	all_epithelial(49;0.102)		229		K -> N (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Splice_Site	SNP	ENST00000378842.3	37	c.687_splice	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203599	0.38905	.	.	ENSG00000213930;ENSG00000213930;ENSG00000258728	ENST00000450095;ENST00000378842;ENST00000556278	.	.	.	4.41	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9429	0.52911	0.0:0.1761:0.8239:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-195F19.29;GALT	34638454	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.904000	0.63279	2.459000	0.83118	0.655000	0.94253	.		0.532	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155	Intron
TDRD7	23424	broad.mit.edu	37	9	100245441	100245441	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:100245441C>G	ENST00000355295.4	+	15	3018	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	TDRD7_ENST00000422139.2_Nonsense_Mutation_p.S834*|TDRD7_ENST00000540902.1_Nonsense_Mutation_p.S228*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	908	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTCCACTTATCAAAGCCAGGG	0.498																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2722-2724)tCa>tGa		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.							67.0	60.0	62.0					9																	100245441		2203	4300	6503	SO:0001587	stop_gained	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245441C>G	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2723C>G	9.37:g.100245441C>G	ENSP00000347444:p.Ser908*					TDRD7_uc011lux.2_Nonsense_Mutation_p.S834*|TDRD7_uc010msp.1_Nonsense_Mutation_p.S160*|TDRD7_uc011luy.2_Nonsense_Mutation_p.S228*	p.S908*	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			14	2948	+		Acute lymphoblastic leukemia(62;0.158)	908			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Nonsense_Mutation	SNP	ENST00000355295.4	37	c.2723C>G	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	37	6.096468	0.97281	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	.	.	.	5.52	4.62	0.57501	.	0.119770	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-10.0685	15.526	0.75905	0.0:0.8613:0.1387:0.0	.	.	.	.	X	908;834;228	.	ENSP00000347444:S908X	S	+	2	0	TDRD7	99285262	0.731000	0.28111	0.185000	0.23176	0.252000	0.25951	4.223000	0.58587	1.466000	0.48025	0.555000	0.69702	TCA		0.498	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TNFSF15	9966	broad.mit.edu	37	9	117552981	117552981	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:117552981G>A	ENST00000374045.4	-	4	620	c.507C>T	c.(505-507)ggC>ggT	p.G169G	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Silent_p.G92G	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	169					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTTTGGTCGGCCTGCTTGTC	0.527																																						uc004bjh.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(505-507)ggC>ggT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.							207.0	169.0	182.0					9																	117552981		2203	4300	6503	SO:0001819	synonymous_variant	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552981G>A	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.507C>T	9.37:g.117552981G>A						TNFSF15_uc004bjg.3_Silent_p.G110G	p.G169G	NM_005118	NP_005109	O95150	TNF15_HUMAN			3	623	-			169					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	ENST00000374045.4	37	c.507C>T	CCDS6809.1																																																																																				0.527	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118	
CACNA1F	778	broad.mit.edu	37	X	49077514	49077514	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:49077514G>T	ENST00000376265.2	-	18	2408	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P772T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P718T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	783					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTCCTGTGGGAGATCCTTC	0.502																																						uc004dnb.3																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(2347-2349)Cca>Aca		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	Verapamil(DB00661)						226.0	142.0	171.0					X																	49077514		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49077514G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2347C>A	X.37:g.49077514G>T	ENSP00000365441:p.Pro783Thr					CACNA1F_uc010nip.3_Missense_Mutation_p.P772T	p.P783T	NM_005183	NP_005174	O60840	CAC1F_HUMAN			17	2409	-			783					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2347C>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	6.241	0.412602	0.11812	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96232	-3.95;-3.87;-3.86	3.14	3.14	0.36123	.	32.793600	0.00166	N	0.000000	D	0.94709	0.8293	L	0.51422	1.61	0.09310	N	1	P;P	0.38167	0.621;0.487	B;B	0.39904	0.313;0.166	D	0.86249	0.1648	10	0.18710	T	0.47	.	8.9455	0.35756	0.0:0.0:1.0:0.0	.	772;783	F5CIQ9;O60840	.;CAC1F_HUMAN	T	718;772;783	ENSP00000365427:P718T;ENSP00000321618:P772T;ENSP00000365441:P783T	ENSP00000321618:P772T	P	-	1	0	CACNA1F	48964458	0.493000	0.26035	0.006000	0.13384	0.095000	0.18619	2.312000	0.43726	1.843000	0.53566	0.179000	0.17066	CCA		0.502	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
TAF1	6872	broad.mit.edu	37	X	70587386	70587386	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:70587386G>A	ENST00000373790.4	+	2	269	c.218G>A	c.(217-219)gGg>gAg	p.G73E	TAF1_ENST00000276072.3_Missense_Mutation_p.G73E|TAF1_ENST00000449580.1_Missense_Mutation_p.G73E|TAF1_ENST00000423759.1_Missense_Mutation_p.G73E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	73	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G73E(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGGCTTTGGGGCTGGGCAGC	0.522																																						uc004dzu.4																			1	Substitution - Missense(1)	p.G73E(2)	central_nervous_system(1)	breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(217-219)gGg>gAg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							90.0	72.0	78.0					X																	70587386		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70587386G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.218G>A	X.37:g.70587386G>A	ENSP00000362895:p.Gly73Glu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G73E	p.G73E	NM_138923	NP_620278	P21675	TAF1_HUMAN			1	269	+	Renal(35;0.156)	all_lung(315;0.000321)	73			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.218G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.429577	0.83776	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16073	2.5;2.55;2.42;2.37	4.51	3.61	0.41365	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.87578	0.777;0.998	T	0.45411	-0.9263	10	0.87932	D	0	.	13.7815	0.63085	0.0:0.1509:0.8491:0.0	.	73;73	P21675;P21675-2	TAF1_HUMAN;.	E	73	ENSP00000362895:G73E;ENSP00000389000:G73E;ENSP00000406549:G73E;ENSP00000276072:G73E	ENSP00000276072:G73E	G	+	2	0	TAF1	70504111	1.000000	0.71417	0.955000	0.39395	0.992000	0.81027	8.606000	0.90888	0.995000	0.38917	0.513000	0.50165	GGG		0.522	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
ATRX	546	broad.mit.edu	37	X	76872167	76872167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:76872167delA	ENST00000373344.5	-	22	5694	c.5480delT	c.(5479-5481)ttgfs	p.L1827fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L1789fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1827					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTGGAGGCAAGAATTTTGT	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.L1827L(1)|p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5479-5481)ttgfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						123.0	109.0	114.0					X																	76872167		2202	4291	6493	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872167delA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5480delT	X.37:g.76872167delA	ENSP00000362441:p.Leu1827fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.L1789fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L1612fs	p.L1827fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			21	5712	-			1827					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5480delT	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ARMCX2	9823	broad.mit.edu	37	X	100910782	100910782	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:100910782T>G	ENST00000328766.5	-	5	2246	c.1793A>C	c.(1792-1794)tAc>tCc	p.Y598S	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.Y598S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.Y598S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	598						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGTGCATAAGTAAAAAAGGGA	0.328																																						uc010nnt.2																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1792-1794)tAc>tCc		Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.							77.0	79.0	78.0					X																	100910782		2203	4299	6502	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100910782T>G	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1793A>C	X.37:g.100910782T>G	ENSP00000331662:p.Tyr598Ser					ARMCX2_uc004eid.2_Missense_Mutation_p.Y598S|ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc022caq.1_Missense_Mutation_p.Y598S	p.Y598S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			4	2602	-			598					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1793A>C	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	5.411	0.261042	0.10239	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.27720	1.65;1.65;1.65	4.1	2.91	0.33838	Armadillo-like helical (1);	0.588535	0.18577	N	0.137163	T	0.10121	0.0248	N	0.02011	-0.69	0.30225	N	0.796401	B	0.14438	0.01	B	0.17979	0.02	T	0.21895	-1.0232	10	0.18276	T	0.48	-0.9532	5.5418	0.17041	0.3136:0.0:0.0:0.6864	.	598	Q7L311	ARMX2_HUMAN	S	598	ENSP00000331662:Y598S;ENSP00000328631:Y598S;ENSP00000349281:Y598S	ENSP00000331662:Y598S	Y	-	2	0	ARMCX2	100797438	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.421000	0.21280	0.691000	0.31592	0.345000	0.21793	TAC		0.328	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
RNF128	79589	broad.mit.edu	37	X	106038858	106038858	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:106038858A>G	ENST00000255499.2	+	7	1452	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	RNF128_ENST00000324342.3_Missense_Mutation_p.D375G	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	401					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGGCAGTGGATGTTATTCCT	0.358																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1201-1203)gAt>gGt		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.							177.0	176.0	176.0					X																	106038858		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106038858A>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1202A>G	X.37:g.106038858A>G	ENSP00000255499:p.Asp401Gly					RNF128_uc004emk.3_Missense_Mutation_p.D375G	p.D401G	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			6	1452	+			401					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.1202A>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610252	0.28712	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.13778	2.75;2.56	5.71	5.71	0.89125	.	0.218778	0.38111	N	0.001807	T	0.09069	0.0224	L	0.29908	0.895	0.29031	N	0.885716	B;P	0.38370	0.118;0.628	B;B	0.30855	0.026;0.121	T	0.16305	-1.0407	10	0.45353	T	0.12	.	9.0324	0.36267	0.8171:0.1829:0.0:0.0	.	401;375	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	G	375;401	ENSP00000316127:D375G;ENSP00000255499:D401G	ENSP00000255499:D401G	D	+	2	0	RNF128	105925514	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.745000	0.47459	1.900000	0.55004	0.481000	0.45027	GAT		0.358	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	
LAMP2	3920	broad.mit.edu	37	X	119580241	119580241	+	Silent	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:119580241G>T	ENST00000200639.4	-	6	919	c.783C>A	c.(781-783)tcC>tcA	p.S261S	LAMP2_ENST00000371335.4_Silent_p.S261S|LAMP2_ENST00000538785.1_Silent_p.S150S|LAMP2_ENST00000434600.2_Silent_p.S261S|LAMP2_ENST00000540603.1_Silent_p.S214S			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	261	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGCTGCCTGTGGAGTGAGTTG	0.423																																						uc004ess.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(781-783)tcC>tcA		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.							108.0	92.0	97.0					X																	119580241		2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119580241G>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.783C>A	X.37:g.119580241G>T						LAMP2_uc004est.4_Silent_p.S261S|LAMP2_uc011mtz.2_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	p.S261S	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN			5	963	-			261			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.783C>A	CCDS14599.1																																																																																				0.423	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		
GRIA3	2892	broad.mit.edu	37	X	122528885	122528885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122528885G>A	ENST00000371251.1	+	6	869	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	GRIA3_ENST00000542149.1_Missense_Mutation_p.V273I|GRIA3_ENST00000264357.5_Missense_Mutation_p.V273I|GRIA3_ENST00000541091.1_Missense_Mutation_p.V257I|GRIA3_ENST00000371256.5_Missense_Mutation_p.V273I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	273					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTTCCAGATTGTCAACAATGA	0.438																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(817-819)Gtc>Atc		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						133.0	121.0	125.0					X																	122528885		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122528885G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.817G>A	X.37:g.122528885G>A	ENSP00000360297:p.Val273Ile					GRIA3_uc004etr.4_Missense_Mutation_p.V273I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	p.V273I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			5	1109	+			273					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.817G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227122	0.22542	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.52	5.52	0.82312	Extracellular ligand-binding receptor (1);	0.224000	0.46442	N	0.000298	T	0.80644	0.4662	L	0.49778	1.585	0.58432	D	0.999996	B;B;B	0.20550	0.046;0.001;0.001	B;B;B	0.23275	0.045;0.008;0.005	T	0.75986	-0.3124	10	0.39692	T	0.17	.	17.5067	0.87748	0.0:0.0:1.0:0.0	.	257;273;273	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	273;273;273;273;257	ENSP00000264357:V273I;ENSP00000446146:V273I;ENSP00000360302:V273I;ENSP00000360297:V273I;ENSP00000446440:V257I	ENSP00000264357:V273I	V	+	1	0	GRIA3	122356566	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	6.061000	0.71148	2.436000	0.82500	0.594000	0.82650	GTC		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
THOC2	57187	broad.mit.edu	37	X	122761607	122761607	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122761607G>A	ENST00000245838.8	-	23	2725	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	THOC2_ENST00000355725.4_Silent_p.S898S|THOC2_ENST00000491737.1_Silent_p.S783S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	898					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCGTTCATAGCTGGTGTGTG	0.388																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2692-2694)agC>agT		Homo sapiens THO complex 2 (THOC2), mRNA.							178.0	150.0	159.0					X																	122761607		1946	4152	6098	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122761607G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2694C>T	X.37:g.122761607G>A						THOC2_uc011muh.1_Silent_p.S823S|Mir_584_uc022cdq.1_5'Flank	p.S898S	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			22	2726	-			898					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.2694C>T	CCDS43988.1																																																																																				0.388	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						uc004fnw.1																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)								c.(910-912)ccT>ccA		Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.																																						653440							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_uc022cip.1_Silent_p.P90P	p.P304P	NM_182905	NP_878908					5	1571	+								A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37	c.912T>A																																																																																					0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
