#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
AGRN	375790	broad.mit.edu	37	1	981607	981607	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:981607G>A	ENST00000379370.2	+	17	2923	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	958	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCGCCAGGGCCTGCAAATC	0.612																																						uc001ack.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2872-2874)gGc>gAc		Homo sapiens agrin (AGRN), mRNA.							95.0	99.0	97.0					1																	981607		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981607G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2873G>A	1.37:g.981607G>A	ENSP00000368678:p.Gly958Asp						p.G958D	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	16	2923	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	958			Kazal-like 9.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.2873G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581022	0.46006	.	.	ENSG00000188157	ENST00000379370	T	0.04706	3.57	5.56	5.56	0.83823	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.424717	0.20300	N	0.095043	T	0.09598	0.0236	L	0.45744	1.44	0.33474	D	0.586522	P	0.38223	0.623	P	0.44647	0.456	T	0.21827	-1.0234	10	0.14656	T	0.56	-12.5464	19.1751	0.93600	0.0:0.0:1.0:0.0	.	958	O00468	AGRIN_HUMAN	D	958	ENSP00000368678:G958D	ENSP00000368678:G958D	G	+	2	0	AGRN	971470	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.302000	0.51849	2.632000	0.89209	0.650000	0.86243	GGC		0.612	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
ZNF362	149076	broad.mit.edu	37	1	33745881	33745881	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:33745881G>A	ENST00000539719.1	+	5	676	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF362_ENST00000373428.5_Missense_Mutation_p.S169N	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGATCACCAGCCCCCCTCTC	0.677																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(505-507)aGc>aAc		Homo sapiens zinc finger protein 362 (ZNF362), mRNA.							76.0	70.0	72.0					1																	33745881		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745881G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.506G>A	1.37:g.33745881G>A	ENSP00000446335:p.Ser169Asn						p.S169N	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			4	676	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	169					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.506G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447838	0.84101	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09073	3.02;3.02	6.03	6.03	0.97812	.	0.602886	0.15727	N	0.247624	T	0.10380	0.0254	L	0.44542	1.39	0.54753	D	0.999985	B	0.33694	0.421	B	0.29785	0.107	T	0.05354	-1.0890	10	0.66056	D	0.02	-26.6453	16.0569	0.80812	0.0:0.0:1.0:0.0	.	169	Q5T0B9	ZN362_HUMAN	N	156;169;169	ENSP00000446335:S169N;ENSP00000362527:S169N	ENSP00000362527:S169N	S	+	2	0	ZNF362	33518468	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.899000	0.92544	2.861000	0.98227	0.655000	0.94253	AGC		0.677	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
MAP7D1	55700	broad.mit.edu	37	1	36636835	36636835	+	Missense_Mutation	SNP	C	C	T	rs2296266	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:36636835C>T	ENST00000373151.2	+	2	526	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	MAP7D1_ENST00000316156.4_Missense_Mutation_p.R104W|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R104W	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	104	Pro-rich.		R -> W (in dbSNP:rs2296266).		microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CATGGGCCCACGGGATGCCAG	0.662													C|||	72	0.014377	0.0	0.0	5008	,	,		14209	0.0437		0.0	False		,,,				2504	0.0286					uc001bzz.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(310-312)Cgg>Tgg		Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.		C	TRP/ARG	5,4399	6.2+/-15.9	0,5,2197	34.0	36.0	35.0		310	2.0	0.8	1	dbSNP_100	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MAP7D1	NM_018067.3	101	0,6,6495	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	104/842	36636835	6,12996	2202	4299	6501	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36636835C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.310C>T	1.37:g.36636835C>T	ENSP00000362244:p.Arg104Trp					MAP7D1_uc001caa.3_Missense_Mutation_p.R104W|MAP7D1_uc001cab.3_Missense_Mutation_p.R104W|MAP7D1_uc001cac.3_5'Flank	p.R104W	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			1	526	+		Myeloproliferative disorder(586;0.0393)	104		R -> W (in dbSNP:rs2296266).	Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.310C>T	CCDS30673.1	12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	C	17.05	3.290260	0.59976	0.001135	1.16E-4	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	5.06	1.96	0.26148	.	0.198819	0.24907	N	0.034645	T	0.06325	0.0163	L	0.36672	1.1	0.33933	D	0.642307	D;D;D	0.89917	0.994;0.994;1.0	P;P;D	0.63283	0.653;0.534;0.913	T	0.06552	-1.0820	10	0.72032	D	0.01	-12.2625	11.8307	0.52293	0.6187:0.3813:0.0:0.0	rs2296266;rs2296266	104;104;104	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	W	65;104;104;104;65	ENSP00000390091:R65W;ENSP00000320228:R104W;ENSP00000362243:R104W;ENSP00000362244:R104W;ENSP00000435126:R65W	ENSP00000320228:R104W	R	+	1	2	MAP7D1	36409422	0.001000	0.12720	0.777000	0.31699	0.791000	0.44710	0.061000	0.14366	0.237000	0.21200	0.563000	0.77884	CGG		0.662	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067	
TM2D1	83941	broad.mit.edu	37	1	62190731	62190731	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:62190731C>A	ENST00000606498.1	-	1	82	c.62G>T	c.(61-63)gGt>gTt	p.G21V	TM2D1_ENST00000371177.2_Missense_Mutation_p.G21V|TM2D1_ENST00000294613.5_Missense_Mutation_p.G21V|TM2D1_ENST00000371180.2_Missense_Mutation_p.G83V			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	21					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CCACAGGACACCAACGAGTCT	0.657																																						uc001czz.1																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(61-63)gGt>gTt		Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.							40.0	47.0	44.0					1																	62190731		1920	4108	6028	SO:0001583	missense	83941				apoptosis			g.chr1:62190731C>A	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.62G>T	1.37:g.62190731C>A	ENSP00000475700:p.Gly21Val						p.G21V	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			0	365	-			21					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.62G>T		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311350	0.40895	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.61	3.69	0.42338	.	0.132784	0.35151	N	0.003419	T	0.29556	0.0737	L	0.36672	1.1	0.09310	N	0.999997	B	0.32338	0.365	B	0.31614	0.133	T	0.13045	-1.0524	9	0.15499	T	0.54	-9.6744	10.96	0.47379	0.0:0.8111:0.1889:0.0	.	21	Q9BX74	TM2D1_HUMAN	V	83;21;21;21	.	ENSP00000294613:G21V	G	-	2	0	TM2D1	61963319	0.014000	0.17966	0.010000	0.14722	0.195000	0.23768	2.086000	0.41643	1.283000	0.44513	0.407000	0.27541	GGT		0.657	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	
FLG	2312	broad.mit.edu	37	1	152282713	152282713	+	Nonsense_Mutation	SNP	G	G	C	rs200294818		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:152282713G>C	ENST00000368799.1	-	3	4684	c.4649C>G	c.(4648-4650)tCa>tGa	p.S1550*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1550	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)			GCCGTCTCCTGATTGTTCCTC	0.592									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.(4648-4650)tCa>tGa		Homo sapiens filaggrin (FLG), mRNA.							273.0	268.0	270.0					1																	152282713		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152282713G>C	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.4649C>G	1.37:g.152282713G>C	ENSP00000357789:p.Ser1550*						p.S1550*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4685	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1550			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.4649C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	39	7.816881	0.98507	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.62	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.6616	0.23016	0.0:0.3005:0.6995:0.0	.	.	.	.	X	1550	.	ENSP00000357789:S1550X	S	-	2	0	FLG	150549337	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.041000	0.12084	1.498000	0.48600	0.485000	0.47835	TCA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PTEN	5728	broad.mit.edu	37	10	89717712	89717712	+	Missense_Mutation	SNP	C	C	T	rs587782350		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89717712C>T	ENST00000371953.3	+	7	2094	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	246	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		P -> L (in CWS1 and BRRS). {ECO:0000269|PubMed:10400993}.		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.P246L(7)|p.R55fs*1(5)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.P246fs*11(1)|p.P246_L247insGP(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)		TTCCCTCAGCCGTTACCTGTG	0.418		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"""		62	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(7)|Insertion - Frameshift(5)|Deletion - In frame(1)|Insertion - In frame(1)|Unknown(1)	p.0?(37)|p.P246L(15)|p.Q245*(8)|p.R55fs*1(5)|p.P246fs*11(3)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|haematopoietic_and_lymphoid_tissue(8)|skin(8)|lung(5)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(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	CM991083	PTEN	M		c.(736-738)cCg>cTg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							136.0	117.0	124.0					10																	89717712		2203	4300	6503	SO:0001583	missense	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.chr10:89717712C>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.737C>T	10.37:g.89717712C>T	ENSP00000361021:p.Pro246Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.P246L	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)	6	1769	+		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)	246		P -> L (in CD and BZS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.737C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825454	0.71143	.	.	ENSG00000171862	ENST00000371953	D	0.86030	-2.06	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.103668	0.64402	D	0.000002	D	0.82797	0.5115	M	0.72118	2.19	0.80722	D	1	P	0.40731	0.728	B	0.30495	0.116	D	0.83816	0.0244	9	.	.	.	-5.2284	18.6161	0.91303	0.0:1.0:0.0:0.0	.	246	P60484	PTEN_HUMAN	L	246	ENSP00000361021:P246L	.	P	+	2	0	PTEN	89707692	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.452000	0.80683	2.380000	0.81148	0.585000	0.79938	CCG		0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89720659	89720659	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89720659G>A	ENST00000371953.3	+	8	2167	c.810G>A	c.(808-810)atG>atA	p.M270I	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	270	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.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.M270I(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)		AGGACAAAATGTTTCACTTTT	0.264		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"""		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M270I(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|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						c.(808-810)atG>atA		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							24.0	25.0	25.0					10																	89720659		2177	4258	6435	SO:0001583	missense	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.chr10:89720659G>A	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.810G>A	10.37:g.89720659G>A	ENSP00000361021:p.Met270Ile	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.M270I	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	1842	+		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)	270			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.810G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729829	0.69074	.	.	ENSG00000171862	ENST00000371953	D	0.84223	-1.82	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	L	0.41236	1.265	0.80722	D	1	P	0.44195	0.828	B	0.43950	0.437	T	0.81835	-0.0750	9	.	.	.	-9.894	18.5632	0.91108	0.0:0.0:1.0:0.0	.	270	P60484	PTEN_HUMAN	I	270	ENSP00000361021:M270I	.	M	+	3	0	PTEN	89710639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.399000	0.81585	0.591000	0.81541	ATG		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MRGPRE	116534	broad.mit.edu	37	11	3249621	3249621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:3249621G>A	ENST00000389832.5	-	2	715	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R136C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R136C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGGTGGCGTGGGCGGCGG	0.692																																						uc021qcj.1																			1	Substitution - Missense(1)	p.R136C(2)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(406-408)Cgc>Tgc		Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.							12.0	19.0	17.0					11																	3249621		2162	4263	6425	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249621G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.409C>T	11.37:g.3249621G>A	ENSP00000374482:p.Arg137Cys					MRGPRE_uc001lxq.4_Missense_Mutation_p.R136C	p.R136C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	406	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	136					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.406C>T		.	.	.	.	.	.	.	.	.	.	g	14.50	2.553837	0.45487	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.46	0.0781	0.14411	GPCR, rhodopsin-like superfamily (1);	0.784752	0.10608	U	0.654779	T	0.56171	0.1967	M	0.70842	2.15	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.43360	-0.9396	9	0.66056	D	0.02	-18.8999	5.2251	0.15389	0.1117:0.0:0.3209:0.5673	.	136	Q86SM8	MRGRE_HUMAN	C	137;136	.	ENSP00000374482:R136C	R	-	1	0	MRGPRE	3206197	0.000000	0.05858	0.075000	0.20258	0.832000	0.47134	-1.254000	0.02874	-0.198000	0.10333	0.484000	0.47621	CGC		0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
MRGPRX2	117194	broad.mit.edu	37	11	19077538	19077538	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:19077538G>A	ENST00000329773.2	-	2	499	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	138					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCGGCAGCGATACCAGATG	0.617																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.3																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(412-414)Cgc>Tgc		Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.							66.0	62.0	63.0					11																	19077538		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077538G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.412C>T	11.37:g.19077538G>A	ENSP00000333800:p.Arg138Cys					MRGPRX2_uc021qer.1_Missense_Mutation_p.R138C	p.R138C	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			1	500	-			138					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.412C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.912402	0.52439	.	.	ENSG00000183695	ENST00000329773	T	0.73469	-0.75	5.26	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.176763	0.40818	N	0.001008	T	0.78541	0.4299	M	0.87180	2.865	0.09310	N	1	P	0.51057	0.941	P	0.48627	0.584	T	0.72544	-0.4261	10	0.87932	D	0	.	6.1705	0.20414	0.0859:0.0:0.582:0.3321	.	138	Q96LB1	MRGX2_HUMAN	C	138	ENSP00000333800:R138C	ENSP00000333800:R138C	R	-	1	0	MRGPRX2	19034114	0.348000	0.24861	0.080000	0.20451	0.970000	0.65996	1.815000	0.38981	0.876000	0.35872	0.655000	0.94253	CGC		0.617	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030	
MAPK8IP1	9479	broad.mit.edu	37	11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:45925671A>G	ENST00000241014.2	+	7	1795	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Y532C|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	542	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.Y542C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602																																						uc001nbr.3																			1	Substitution - Missense(1)	p.Y542C(2)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1624-1626)tAt>tGt		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							84.0	67.0	73.0					11																	45925671		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45925671A>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1625A>G	11.37:g.45925671A>G	ENSP00000241014:p.Tyr542Cys						p.Y542C	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	6	1950	+			542			SH3.		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1625A>G	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485060	0.63962	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	Src homology-3 domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.36672	1.1	0.80722	D	1	P	0.38250	0.624	B	0.37601	0.254	T	0.44757	-0.9307	10	0.66056	D	0.02	-30.3091	15.3348	0.74244	1.0:0.0:0.0:0.0	.	542	Q9UQF2	JIP1_HUMAN	C	542;532	ENSP00000241014:Y542C;ENSP00000378991:Y532C	ENSP00000241014:Y542C	Y	+	2	0	MAPK8IP1	45882247	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.720000	0.47252	2.086000	0.62901	0.459000	0.35465	TAT		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
OR5R1	219479	broad.mit.edu	37	11	56185215	56185215	+	Missense_Mutation	SNP	C	C	T	rs138983419	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56185215C>T	ENST00000312253.1	-	1	493	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTAAGTCAGACGGAAAGTGAT	0.438													T|||	2	0.000399361	0.0015	0.0	5008	,	,		21603	0.0		0.0	False		,,,				2504	0.0					uc010rji.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(493-495)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.		T	HIS/ARG	4,4398	825.3+/-416.5	0,4,2197	110.0	109.0	109.0		494	-7.0	0.0	11	dbSNP_134	109	0,8592		0,0,4296	yes	missense	OR5R1	NM_001004744.1	29	0,4,6493	TT,TC,CC		0.0,0.0909,0.0308	benign	165/325	56185215	4,12990	2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185215C>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.494G>A	11.37:g.56185215C>T	ENSP00000308595:p.Arg165His					OR8U8_uc001nit.2_Intron	p.R165H	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			0	494	-	Esophageal squamous(21;0.00448)		165						Missense_Mutation	SNP	ENST00000312253.1	37	c.494G>A	CCDS31530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	3.271	-0.149157	0.06585	9.09E-4	0.0	ENSG00000174942	ENST00000312253	T	0.00169	8.63	5.91	-7.02	0.01589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.41573	1.285	0.09310	N	1	B	0.15473	0.013	B	0.21151	0.033	T	0.10636	-1.0621	9	0.35671	T	0.21	-0.3618	11.5731	0.50845	0.0:0.3192:0.1108:0.57	.	165	Q8NH85	OR5R1_HUMAN	H	165	ENSP00000308595:R165H	ENSP00000308595:R165H	R	-	2	0	OR5R1	55941791	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.581000	0.00906	-1.384000	0.02103	-1.370000	0.01191	CGT		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
LRRC55	219527	broad.mit.edu	37	11	56950146	56950146	+	Missense_Mutation	SNP	G	G	A	rs201169874		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56950146G>A	ENST00000497933.1	+	1	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R260H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGATCCAGCGCTGTACAGCA	0.607																																						uc001njl.2																			1	Substitution - Missense(1)	p.R260H(2)|p.R260C(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(778-780)cGc>cAc		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.		G	HIS/ARG	0,4402		0,0,2201	64.0	60.0	61.0		779	5.5	1.0	11		61	1,8589	1.2+/-3.3	0,1,4294	yes	missense	LRRC55	NM_001005210.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	260/342	56950146	1,12991	2201	4295	6496	SO:0001583	missense	219527					integral to membrane		g.chr11:56950146G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.779G>A	11.37:g.56950146G>A	ENSP00000419542:p.Arg260His						p.R260H	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	926	+			230			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.779G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575277	0.65878	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.22336	1.96	5.53	5.53	0.82687	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000016	T	0.18718	0.0449	L	0.55481	1.735	0.53688	D	0.99997	P	0.36789	0.57	B	0.17433	0.018	T	0.03017	-1.1082	10	0.32370	T	0.25	.	16.3896	0.83531	0.0:0.0:1.0:0.0	.	230	Q6ZSA7	LRC55_HUMAN	H	260	ENSP00000419542:R260H	ENSP00000419542:R260H	R	+	2	0	LRRC55	56706722	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.630000	0.61297	2.608000	0.88229	0.561000	0.74099	CGC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
RNF169	254225	broad.mit.edu	37	11	74546969	74546969	+	Missense_Mutation	SNP	C	C	T	rs372547886		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:74546969C>T	ENST00000299563.4	+	6	1334	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	441					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTTTCAGGAGCGGCAGATCAA	0.478																																						uc001ovl.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1321-1323)Cgg>Tgg		Homo sapiens ring finger protein 169 (RNF169), mRNA.							82.0	83.0	83.0					11																	74546969		1847	4090	5937	SO:0001583	missense	254225						zinc ion binding	g.chr11:74546969C>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1321C>T	11.37:g.74546969C>T	ENSP00000299563:p.Arg441Trp					XRRA1_uc001ovm.2_Intron	p.R441W	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			5	1334	+			441					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1321C>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904847	0.72868	.	.	ENSG00000166439	ENST00000299563	T	0.70986	-0.53	5.99	4.05	0.47172	.	0.061993	0.64402	D	0.000006	D	0.83198	0.5202	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85776	0.1358	10	0.87932	D	0	-1.8674	13.6175	0.62118	0.2806:0.7194:0.0:0.0	.	441	Q8NCN4	RN169_HUMAN	W	441	ENSP00000299563:R441W	ENSP00000299563:R441W	R	+	1	2	RNF169	74224617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.175000	0.42491	1.528000	0.49103	0.655000	0.94253	CGG		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886	
C12orf4	57102	broad.mit.edu	37	12	4643363	4643363	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:4643363A>C	ENST00000261250.3	-	3	371	c.284T>G	c.(283-285)tTa>tGa	p.L95*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.L95*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	95										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CAGCTGATGTAAATCTACTTC	0.393																																						uc001qms.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(283-285)tTa>tGa		Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.							89.0	83.0	85.0					12																	4643363		2203	4300	6503	SO:0001587	stop_gained	57102							g.chr12:4643363A>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.284T>G	12.37:g.4643363A>C	ENSP00000261250:p.Leu95*					C12orf4_uc001qmt.3_Nonsense_Mutation_p.L95*	p.L95*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	2	372	-			95					D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.284T>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071679	0.93950	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.72	5.72	0.89469	.	0.263447	0.33180	N	0.005185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	14.5594	0.68126	1.0:0.0:0.0:0.0	.	.	.	.	X	95;95;48	.	ENSP00000261250:L95X	L	-	2	0	C12orf4	4513624	0.840000	0.29493	0.752000	0.31206	0.952000	0.60782	6.805000	0.75191	2.180000	0.69256	0.482000	0.46254	TTA		0.393	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
CLSTN3	9746	broad.mit.edu	37	12	7295764	7295764	+	Silent	SNP	C	C	T	rs143198009	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:7295764C>T	ENST00000266546.6	+	12	2154	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	CLSTN3_ENST00000537408.1_Silent_p.H580H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	568					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGGTCCACGTGAACCCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					uc001qss.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1738-1740)caC>caT		Homo sapiens calsyntenin 3 (CLSTN3), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	90.0	82.0	85.0		1704	3.4	1.0	12	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CLSTN3	NM_014718.3		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		568/957	7295764	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295764C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1704C>T	12.37:g.7295764C>T						CLSTN3_uc001qsr.3_Silent_p.H568H	p.H580H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			10	2278	+			568					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1740C>T	CCDS8575.1																																																																																				0.612	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
PPP1CC	5501	broad.mit.edu	37	12	111168342	111168342	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:111168342T>A	ENST00000335007.5	-	3	600	c.410A>T	c.(409-411)tAt>tTt	p.Y137F	PPP1CC_ENST00000546933.1_Missense_Mutation_p.Y146F|PPP1CC_ENST00000550991.1_Missense_Mutation_p.Y137F|PPP1CC_ENST00000340766.5_Missense_Mutation_p.Y137F|PPP1CC_ENST00000551690.1_5'Flank|PPP1CC_ENST00000551676.1_Missense_Mutation_p.Y137F	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	137					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACATTCATCATAAAATCCATA	0.308																																						uc001tru.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(409-411)tAt>tTt		Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.							50.0	55.0	53.0					12																	111168342		2203	4300	6503	SO:0001583	missense	5501				cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity	g.chr12:111168342T>A		CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.410A>T	12.37:g.111168342T>A	ENSP00000335084:p.Tyr137Phe					PPP1CC_uc021rdx.1_Missense_Mutation_p.Y137F	p.Y137F	NM_002710	NP_002701	P36873	PP1G_HUMAN			2	681	-			137						Missense_Mutation	SNP	ENST00000335007.5	37	c.410A>T	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853992	0.71719	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.49	5.49	0.81192	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.37897	1.145	0.58432	D	0.999999	B	0.33171	0.4	B	0.42214	0.38	T	0.09335	-1.0679	10	0.62326	D	0.03	-17.0008	15.8838	0.79226	0.0:0.0:0.0:1.0	.	137	P36873	PP1G_HUMAN	F	137;137;146;137;137	ENSP00000335084:Y137F;ENSP00000341779:Y137F;ENSP00000447122:Y146F;ENSP00000448981:Y137F;ENSP00000448437:Y137F	ENSP00000335084:Y137F	Y	-	2	0	PPP1CC	109652725	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.910000	0.87451	2.216000	0.71823	0.379000	0.24179	TAT		0.308	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1		
DNAH10	196385	broad.mit.edu	37	12	124416577	124416577	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:124416577G>A	ENST00000409039.3	+	75	12889	c.12864G>A	c.(12862-12864)agG>agA	p.R4288R	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4288					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGGAGAAGGCTTGCTCCTG	0.493																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12862-12864)agG>agA		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							95.0	99.0	98.0					12																	124416577		1964	4152	6116	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416577G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12864G>A	12.37:g.124416577G>A						DNAH10_uc001ufu.4_Silent_p.R201R	p.R4288R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12889	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4288					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12864G>A	CCDS9255.2																																																																																				0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
MDGA2	161357	broad.mit.edu	37	14	47351248	47351248	+	Splice_Site	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:47351248A>G	ENST00000399232.2	-	11	2572	c.2208T>C	c.(2206-2208)agT>agC	p.S736S	MDGA2_ENST00000357362.3_Splice_Site_p.S507S|MDGA2_ENST00000426342.1_Splice_Site_p.S507S|MDGA2_ENST00000439988.3_Splice_Site_p.S805S|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	736	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTACTTACCACTATATTTGA	0.313																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.e11+1		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							34.0	30.0	31.0					14																	47351248		1803	4071	5874	SO:0001630	splice_region_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351248A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2209+1T>C	14.37:g.47351248A>G						MDGA2_uc001wwh.4_Splice_Site|MDGA2_uc001wwi.4_Splice_Site_p.A508_splice|MDGA2_uc010ani.3_Splice_Site_p.A297_splice	p.A806_splice	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			11	2574	-			737			MAM.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.2416_splice																																																																																					0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	Silent
CDKL1	8814	broad.mit.edu	37	14	50808934	50808934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:50808934G>A	ENST00000216378.2	-	5	1017	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	CDKL1_ENST00000395834.1_Missense_Mutation_p.H125Y|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACGTCTCTATGTATGCACTAG	0.333																																						uc010anu.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(2386-2388)Cat>Tat		Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.							119.0	103.0	108.0					14																	50808934		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50808934G>A	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.373C>T	14.37:g.50808934G>A	ENSP00000216378:p.His125Tyr					CDKL1_uc001wxz.3_Missense_Mutation_p.H125Y	p.H796Y	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			16	2386	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		124					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.2386C>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.642393	0.87859	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.72051	-0.62;-0.62	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87585	0.6214	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89785	0.3964	9	0.87932	D	0	.	19.2866	0.94077	0.0:0.0:1.0:0.0	.	796;124	Q00532-2;Q00532	.;CDKL1_HUMAN	Y	125	ENSP00000379176:H125Y;ENSP00000216378:H125Y	ENSP00000216378:H125Y	H	-	1	0	CDKL1	49878684	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.359000	0.97115	2.723000	0.93209	0.655000	0.94253	CAT		0.333	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1		
NIN	51199	broad.mit.edu	37	14	51196324	51196324	+	Missense_Mutation	SNP	G	G	A	rs144624455	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:51196324G>A	ENST00000382041.3	-	29	6185	c.5995C>T	c.(5995-5997)Cgc>Tgc	p.R1999C	NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.R1999C|NIN_ENST00000530997.2_Missense_Mutation_p.R1999C|NIN_ENST00000382043.4_Missense_Mutation_p.R1286C|NIN_ENST00000453196.1_Missense_Mutation_p.R1999C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1999					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCAGCTGGCGTTGAAGCTGC	0.567			T	PDGFRB	MPD								G|||	4	0.000798722	0.0	0.0	5008	,	,		16119	0.003		0.0	False		,,,				2504	0.001					uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5995-5997)Cgc>Tgc		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							134.0	121.0	125.0					14																	51196324		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51196324G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5995C>T	14.37:g.51196324G>A	ENSP00000371472:p.Arg1999Cys					NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1999C|NIN_uc001wyk.3_Missense_Mutation_p.R1286C|NIN_uc001wyo.3_Missense_Mutation_p.R1999C|NIN_uc001wyn.3_Non-coding_Transcript	p.R1999C	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			28	6186	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1999					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5995C>T	CCDS32079.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	15.91|15.91	2.973517|2.973517	0.53720|0.53720	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.30182|.	1.54;2.61;3.14;3.17|.	5.23|5.23	3.3|3.3	0.37823|0.37823	.|.	0.846343|.	0.10748|.	N|.	0.638643|.	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.22421|0.22421	0.69|0.69	0.42852|0.42852	D|D	0.994081|0.994081	P;P;P;P;P|.	0.52842|.	0.939;0.956;0.956;0.712;0.956|.	P;B;B;B;B|.	0.45712|.	0.491;0.337;0.292;0.2;0.292|.	T|T	0.12502|0.12502	-1.0545|-1.0545	10|5	0.72032|.	D|.	0.01|.	-0.2194|-0.2194	8.7481|8.7481	0.34598|0.34598	0.0801:0.0:0.7727:0.1472|0.0801:0.0:0.7727:0.1472	.|.	2005;1999;1999;1286;1999|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	C|M	1999;1982;1286;2005;1999;1999|1489	ENSP00000245441:R1999C;ENSP00000371474:R1286C;ENSP00000371472:R1999C;ENSP00000412391:R1999C|.	ENSP00000245441:R1999C|.	R|T	-|-	1|2	0|0	NIN|NIN	50266074|50266074	0.984000|0.984000	0.35163|0.35163	0.768000|0.768000	0.31515|0.31515	0.984000|0.984000	0.73092|0.73092	3.842000|3.842000	0.55858|0.55858	1.361000|1.361000	0.45981|0.45981	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.567	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
AK7	122481	broad.mit.edu	37	14	96949427	96949427	+	Silent	SNP	C	C	T	rs199616462		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:96949427C>T	ENST00000267584.4	+	16	1889	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	615					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTTTAACAGACGAAGAAAAGG	0.507																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1843-1845)gaC>gaT		Homo sapiens adenylate kinase 7 (AK7), mRNA.							72.0	70.0	71.0					14																	96949427		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96949427C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1845C>T	14.37:g.96949427C>T							p.D615D	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	15	1889	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	615					Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.1845C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	6.779	0.512671	0.12944	.	.	ENSG00000140057	ENST00000554706	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.0074	1.0407	0.01558	0.1703:0.1914:0.2599:0.3785	.	.	.	.	X	37	.	.	R	+	1	2	AK7	96019180	0.000000	0.05858	0.048000	0.18961	0.742000	0.42306	-6.345000	0.00070	-3.047000	0.00261	-1.148000	0.01847	CGA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
NIPA1	123606	broad.mit.edu	37	15	23048832	23048832	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:23048832G>T	ENST00000337435.4	-	5	1011	c.987C>A	c.(985-987)gaC>gaA	p.D329E	NIPA1_ENST00000561183.1_Missense_Mutation_p.D254E|NIPA1_ENST00000538684.1_Missense_Mutation_p.D159E|NIPA1_ENST00000437912.2_Missense_Mutation_p.D254E	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	329					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGCAATCTAGTCTGTTTTCA	0.453																																						uc001yvc.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(985-987)gaC>gaA		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.							80.0	76.0	77.0					15																	23048832		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23048832G>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.987C>A	15.37:g.23048832G>T	ENSP00000337452:p.Asp329Glu					NIPA1_uc001yvd.3_Missense_Mutation_p.D159E|NIPA1_uc001yve.3_Missense_Mutation_p.D254E	p.D329E	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	1012	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	329					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.987C>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262905	0.23051	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;T	0.90900	-2.75;-2.51;-1.21	5.74	4.72	0.59763	.	0.286088	0.37955	N	0.001870	T	0.68742	0.3034	N	0.01874	-0.695	0.39673	D	0.970785	B	0.15141	0.012	B	0.12837	0.008	T	0.65907	-0.6054	10	0.07482	T	0.82	.	2.6243	0.04925	0.1804:0.0:0.5195:0.3001	.	329	Q7RTP0	NIPA1_HUMAN	E	329;254;159	ENSP00000337452:D329E;ENSP00000393962:D254E;ENSP00000440957:D159E	ENSP00000337452:D329E	D	-	3	2	NIPA1	20600273	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.976000	0.49289	2.722000	0.93159	0.591000	0.81541	GAC		0.453	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599	
AKAP13	11214	broad.mit.edu	37	15	86270682	86270682	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:86270682C>G	ENST00000394518.2	+	29	7170	c.7075C>G	c.(7075-7077)Cga>Gga	p.R2359G	RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2363G|AKAP13_ENST00000394510.2_Missense_Mutation_p.R604G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2359	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACCAGAGCCCGAGAATTAAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7075-7077)Cga>Gga		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							89.0	88.0	88.0					15																	86270682		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86270682C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7075C>G	15.37:g.86270682C>G	ENSP00000378026:p.Arg2359Gly					AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	p.R2359G	NM_007200	NP_009131	Q12802	AKP13_HUMAN			28	7245	+			2359			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7075C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983997	0.74474	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.12984	2.63;2.65;2.9	5.89	2.69	0.31865	.	.	.	.	.	T	0.38401	0.1039	M	0.83118	2.625	0.48288	D	0.999622	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.78314	0.926;0.98;0.991	T	0.46261	-0.9204	9	0.66056	D	0.02	.	13.369	0.60703	0.4849:0.5151:0.0:0.0	.	2339;2359;2363	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	G	2363;2359;2362;2338;604	ENSP00000354718:R2363G;ENSP00000378026:R2359G;ENSP00000378018:R604G	ENSP00000354718:R2363G	R	+	1	2	AKAP13	84071686	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	3.461000	0.53035	1.479000	0.48272	0.655000	0.94253	CGA		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
HAPLN3	145864	broad.mit.edu	37	15	89417650	89417650	+	IGR	SNP	C	C	T	rs571382991		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:89417650C>T	ENST00000359595.3	-	0	1980				ACAN_ENST00000559004.1_Missense_Mutation_p.R2473C|ACAN_ENST00000352105.7_Missense_Mutation_p.R2412C|ACAN_ENST00000561243.1_Missense_Mutation_p.R2511C|ACAN_ENST00000439576.2_Missense_Mutation_p.R2511C	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CACCTACAAACGCAGACTACA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16642	0.0		0.001	False		,,,				2504	0.0					uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(7531-7533)Cgc>Tgc		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							32.0	37.0	35.0					15																	89417650		2098	4210	6308	SO:0001628	intergenic_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417650C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680		15.37:g.89417650C>T						ACAN_uc010upp.1_Missense_Mutation_p.R2412C|ACAN_uc002bna.2_Non-coding_Transcript	p.R2511C	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7905	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2511					A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.7531C>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118068	0.56505	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02369	4.51;4.32	4.65	2.61	0.31194	.	0.421932	0.16078	N	0.230643	T	0.11452	0.0279	M	0.71036	2.16	0.27825	N	0.941654	D;D	0.89917	0.997;1.0	P;D	0.69654	0.719;0.965	T	0.01702	-1.1292	10	0.87932	D	0	-5.9129	9.7167	0.40278	0.3718:0.6282:0.0:0.0	.	2412;2511	E7ENV9;E7EX88	.;.	C	2511;2412;2397	ENSP00000387356:R2511C;ENSP00000341615:R2412C	ENSP00000268134:R2397C	R	+	1	0	ACAN	87218654	1.000000	0.71417	0.998000	0.56505	0.750000	0.42670	1.702000	0.37836	1.129000	0.42072	0.655000	0.94253	CGC		0.612	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
CLCN7	1186	broad.mit.edu	37	16	1507256	1507256	+	Splice_Site	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:1507256T>C	ENST00000382745.4	-	9	1426	c.821A>G	c.(820-822)aAg>aGg	p.K274R	CLCN7_ENST00000262318.8_Splice_Site_p.K250R|CLCN7_ENST00000448525.1_Splice_Site_p.K250R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	274					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.e9+1		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							111.0	99.0	103.0					16																	1507256		2198	4300	6498	SO:0001630	splice_region_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507256T>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.822+1A>G	16.37:g.1507256T>C						CLCN7_uc002clw.2_Splice_Site_p.K250_splice	p.K274_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN			9	932	-		Hepatocellular(780;0.0893)	274					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.822_splice	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697624	0.15106	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93659	-3.26;-3.26	5.39	4.29	0.51040	Chloride channel, core (2);	0.044123	0.85682	D	0.000000	T	0.81527	0.4841	N	0.04508	-0.205	0.80722	D	1	B;B	0.24426	0.005;0.103	B;B	0.25614	0.021;0.062	T	0.73332	-0.4016	10	0.07175	T	0.84	-48.0749	9.9049	0.41370	0.0:0.0814:0.0:0.9186	.	250;274	E9PDB9;P51798	.;CLCN7_HUMAN	R	250;227;274;216	ENSP00000410907:K250R;ENSP00000372193:K274R	ENSP00000262318:K227R	K	-	2	0	CLCN7	1447257	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.807000	0.62576	0.886000	0.36113	0.459000	0.35465	AAG		0.592	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	Missense_Mutation
COG4	25839	broad.mit.edu	37	16	70551628	70551628	+	Silent	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:70551628C>G	ENST00000323786.5	-	3	291	c.270G>C	c.(268-270)ctG>ctC	p.L90L	COG4_ENST00000393612.4_Silent_p.L86L|COG4_ENST00000564653.1_Silent_p.L90L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	86	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453																																						uc002ezc.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(268-270)ctG>ctC		Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.							125.0	108.0	114.0					16																	70551628		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70551628C>G	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.270G>C	16.37:g.70551628C>G						COG4_uc002ezd.3_Silent_p.L90L|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	p.L90L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			2	281	-		Ovarian(137;0.0694)	86			Interacts with STX5.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.270G>C	CCDS10892.2																																																																																				0.453	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		
TAT	6898	broad.mit.edu	37	16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:71603782C>T	ENST00000355962.4	-	10	1233	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	367					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCAGAAGGGCGGACTGGCCG	0.512																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(1099-1101)cGc>cAc		Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						53.0	44.0	47.0					16																	71603782		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71603782C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1100G>A	16.37:g.71603782C>T	ENSP00000348234:p.Arg367His						p.R367H	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	9	1199	-		Ovarian(137;0.125)	367					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.1100G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584805	0.28268	.	.	ENSG00000198650	ENST00000355962	D	0.90676	-2.71	5.69	3.41	0.39046	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199634	0.51477	N	0.000092	D	0.87657	0.6232	L	0.52905	1.665	0.43569	D	0.995894	B	0.15930	0.015	B	0.08055	0.003	D	0.85736	0.1334	10	0.62326	D	0.03	-8.0025	13.3825	0.60775	0.0:0.851:0.0:0.149	.	367	P17735	ATTY_HUMAN	H	367	ENSP00000348234:R367H	ENSP00000348234:R367H	R	-	2	0	TAT	70161283	0.984000	0.35163	1.000000	0.80357	0.980000	0.70556	1.910000	0.39927	1.410000	0.46936	-0.140000	0.14226	CGC		0.512	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
KARS	3735	broad.mit.edu	37	16	75665416	75665416	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:75665416C>T	ENST00000302445.3	-	9	1189	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.D412N	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	384					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAGTCAACATCGTAGGCTTGG	0.517																																						uc002feq.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1150-1152)Gat>Aat		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	L-Lysine(DB00123)						114.0	112.0	112.0					16																	75665416		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665416C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1150G>A	16.37:g.75665416C>T	ENSP00000303043:p.Asp384Asn					KARS_uc002fer.3_Missense_Mutation_p.D412N	p.D384N	NM_005548	NP_005539	Q15046	SYK_HUMAN			8	1198	-			384					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1150G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070566	0.36566	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.78707	-1.2;-1.2	5.91	4.96	0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.256151	0.47093	D	0.000258	T	0.71409	0.3336	L	0.43701	1.375	0.80722	D	1	B;B	0.17038	0.0;0.02	B;B	0.10450	0.001;0.005	T	0.68032	-0.5516	10	0.51188	T	0.08	-8.5813	13.9958	0.64397	0.0:0.927:0.0:0.073	.	412;384	Q15046-2;Q15046	.;SYK_HUMAN	N	412;384	ENSP00000325448:D412N;ENSP00000303043:D384N	ENSP00000303043:D384N	D	-	1	0	KARS	74222917	1.000000	0.71417	0.560000	0.28344	0.056000	0.15407	7.818000	0.86416	1.502000	0.48669	-0.150000	0.13652	GAT		0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548	
USP10	9100	broad.mit.edu	37	16	84812553	84812553	+	Silent	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:84812553C>A	ENST00000219473.7	+	14	2375	c.2262C>A	c.(2260-2262)gtC>gtA	p.V754V	USP10_ENST00000570191.1_Silent_p.V758V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	754	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTACAGACGTCTTCCAGATCG	0.567																																						uc010voe.2																			0		p.I757N(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2272-2274)gtC>gtA		Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.							46.0	44.0	45.0					16																	84812553		2050	4182	6232	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84812553C>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2262C>A	16.37:g.84812553C>A						USP10_uc002fii.3_Silent_p.V754V|USP10_uc010vof.2_Silent_p.V316V|USP10_uc002fij.3_Silent_p.V280V	p.V758V	NM_005153	NP_005144	Q14694	UBP10_HUMAN			14	2525	+			754					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.2274C>A	CCDS45537.1																																																																																				0.567	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
WSCD1	23302	broad.mit.edu	37	17	5991317	5991317	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:5991317C>T	ENST00000574946.1	+	3	825	c.435C>T	c.(433-435)taC>taT	p.Y145Y	WSCD1_ENST00000573634.1_Silent_p.Y29Y|WSCD1_ENST00000574232.1_Silent_p.Y145Y|WSCD1_ENST00000539421.1_Silent_p.Y145Y|WSCD1_ENST00000317744.5_Silent_p.Y145Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	145	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGCACCTACATTGGATGCT	0.537																																						uc010cli.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(433-435)taC>taT		Homo sapiens WSC domain containing 1 (WSCD1), mRNA.							131.0	114.0	120.0					17																	5991317		2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5991317C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.435C>T	17.37:g.5991317C>T						WSCD1_uc002gcn.3_Silent_p.Y145Y|WSCD1_uc002gco.3_Silent_p.Y145Y|WSCD1_uc010clj.3_Intron	p.Y145Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			2	814	+			145			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.435C>T	CCDS32538.1																																																																																				0.537	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLC13A2	9058	broad.mit.edu	37	17	26816246	26816246	+	Silent	SNP	G	G	A	rs181965873		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:26816246G>A	ENST00000314669.5	+	2	537	c.117G>A	c.(115-117)gcG>gcA	p.A39A	SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000444914.3_Silent_p.A39A|SLC13A2_ENST00000545060.1_Intron	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	39					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTACTGCGCGTATGCCATCA	0.612													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18219	0.0		0.0	False		,,,				2504	0.0					uc010wan.2																			0		p.A39V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(115-117)gcG>gcA		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	Succinic acid(DB00139)						123.0	92.0	102.0					17																	26816246		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26816246G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.117G>A	17.37:g.26816246G>A						SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.A39A|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	p.A39A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	184	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		39					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.117G>A	CCDS11231.1																																																																																				0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
SLC16A6	9120	broad.mit.edu	37	17	66267054	66267054	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:66267054T>G	ENST00000327268.4	-	6	1411	c.1247A>C	c.(1246-1248)gAg>gCg	p.E416A	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.E416A	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	416					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGACATCTTCTCAATGCCCAC	0.458																																						uc002jha.2																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1246-1248)gAg>gCg		Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	Pyruvic acid(DB00119)						101.0	88.0	92.0					17																	66267054		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267054T>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1247A>C	17.37:g.66267054T>G	ENSP00000319991:p.Glu416Ala					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.E416A	p.E416A	NM_001174166	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1560	-	all_cancers(12;1.24e-09)		416					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1247A>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332013	0.24167	.	.	ENSG00000108932	ENST00000327268	T	0.59906	0.23	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.323813	0.31963	N	0.006784	T	0.51517	0.1679	L	0.42245	1.32	0.32570	N	0.529875	B	0.24675	0.109	B	0.34093	0.175	T	0.61297	-0.7091	10	0.41790	T	0.15	.	10.6625	0.45710	0.0:0.0:0.1598:0.8402	.	416	O15403	MOT7_HUMAN	A	416	ENSP00000319991:E416A	ENSP00000319991:E416A	E	-	2	0	SLC16A6	63778649	1.000000	0.71417	0.949000	0.38748	0.461000	0.32589	3.950000	0.56676	1.896000	0.54893	0.397000	0.26171	GAG		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	
GPS1	2873	broad.mit.edu	37	17	80014960	80014960	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:80014960T>C	ENST00000306823.6	+	13	1456	c.1433T>C	c.(1432-1434)cTg>cCg	p.L478P	GPS1_ENST00000320548.4_Missense_Mutation_p.L458P|GPS1_ENST00000355130.2_Missense_Mutation_p.L514P|GPS1_ENST00000392358.2_Missense_Mutation_p.L514P|GPS1_ENST00000578552.1_Missense_Mutation_p.L474P			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	478					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGGGGAGCTGACTCCAGCC	0.677																																						uc002kdk.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(1540-1542)cTg>cCg		Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.							41.0	43.0	42.0					17																	80014960		2203	4299	6502	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80014960T>C		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1433T>C	17.37:g.80014960T>C	ENSP00000302873:p.Leu478Pro					GPS1_uc002kdl.1_Missense_Mutation_p.L478P|GPS1_uc010dij.1_Missense_Mutation_p.L513P|GPS1_uc002kdm.1_Missense_Mutation_p.L458P|GPS1_uc002kdn.1_Missense_Mutation_p.L474P|GPS1_uc010wvh.1_Missense_Mutation_p.L470P	p.L514P	NM_212492	NP_997657	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		12	1961	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		478					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.1541T>C	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.214970	0.79352	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.47078	0.1426	L	0.34521	1.04	0.80722	D	1	B;P;P;B;P	0.47302	0.162;0.828;0.744;0.162;0.893	B;B;B;B;P	0.45310	0.084;0.284;0.341;0.101;0.476	T	0.45687	-0.9244	8	0.40728	T	0.16	.	14.3228	0.66499	0.0:0.0:0.0:1.0	.	470;513;474;478;514	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	P	514;478;514	.	ENSP00000302873:L478P	L	+	2	0	GPS1	77608249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.327000	0.79147	1.973000	0.57446	0.375000	0.23000	CTG		0.677	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492	
CIDEA	1149	broad.mit.edu	37	18	12262928	12262928	+	Missense_Mutation	SNP	G	G	A	rs149949331	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr18:12262928G>A	ENST00000320477.9	+	2	208	c.143G>A	c.(142-144)cGt>cAt	p.R48H	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	48	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGCAGCCGGCGTGGGGTGATG	0.622																																						uc002kqt.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(142-144)cGt>cAt		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	40.0	41.0	41.0		143	5.3	0.9	18	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CIDEA	NM_001279.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	48/220	12262928	1,13005	2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262928G>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.143G>A	18.37:g.12262928G>A	ENSP00000320209:p.Arg48His					CIDEA_uc002kqu.4_Missense_Mutation_p.R82H|CIDEA_uc010dlc.3_Non-coding_Transcript	p.R48H	NM_001279	NP_001270	O60543	CIDEA_HUMAN			1	208	+			48			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.143G>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299910	0.81136	0.0	1.16E-4	ENSG00000176194	ENST00000320477	T	0.41758	0.99	5.31	5.31	0.75309	Caspase-activated nuclease CIDE-N (3);	0.174879	0.37669	N	0.001987	T	0.49898	0.1584	L	0.33792	1.035	0.36222	D	0.852049	D;D	0.89917	0.999;1.0	D;D	0.71414	0.961;0.973	T	0.60156	-0.7318	10	0.87932	D	0	-15.1124	9.713	0.40256	0.1562:0.0:0.8438:0.0	.	82;48	Q8N5P9;O60543	.;CIDEA_HUMAN	H	48	ENSP00000320209:R48H	ENSP00000320209:R48H	R	+	2	0	CIDEA	12252928	0.999000	0.42202	0.948000	0.38648	0.988000	0.76386	3.933000	0.56545	2.467000	0.83353	0.655000	0.94253	CGT		0.622	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279	
MUC16	94025	broad.mit.edu	37	19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T	rs551319234		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:9046404C>T	ENST00000397910.4	-	5	35430	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11745	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V7376M(1)|p.V11743M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAAGTCACCATCTCTGGT	0.502																																						uc002mkp.3																			2	Substitution - Missense(2)	p.V7376M(1)|p.V11743M(1)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35227-35229)Gtg>Atg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							132.0	125.0	127.0					19																	9046404		2000	4179	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046404C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35227G>A	19.37:g.9046404C>T	ENSP00000381008:p.Val11743Met						p.V11743M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	35431	-			11745			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35227G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.233	0.805050	0.16467	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.55	-4.06	0.03986	.	.	.	.	.	T	0.02193	0.0068	N	0.17474	0.49	.	.	.	B	0.32245	0.361	B	0.34931	0.192	T	0.43972	-0.9358	8	0.87932	D	0	.	1.396	0.02261	0.14:0.3463:0.2759:0.2377	.	11743	B5ME49	.	M	11743	ENSP00000381008:V11743M	ENSP00000381008:V11743M	V	-	1	0	MUC16	8907404	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.848000	0.04326	-0.658000	0.05366	-0.322000	0.08575	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
HPN	3249	broad.mit.edu	37	19	35556818	35556818	+	Missense_Mutation	SNP	C	C	T	rs572113826	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:35556818C>T	ENST00000262626.2	+	12	1922	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	HPN_ENST00000392226.1_Missense_Mutation_p.T366M|HPN_ENST00000597419.1_Missense_Mutation_p.T208M|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	366	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ATCTCTCGGACGCCACGTTGG	0.632													C|||	3	0.000599042	0.0	0.0	5008	,	,		17841	0.001		0.0	False		,,,				2504	0.002					uc002nxq.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1096-1098)aCg>aTg		Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	Coagulation factor VIIa(DB00036)						112.0	112.0	112.0					19																	35556818		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556818C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1097C>T	19.37:g.35556818C>T	ENSP00000262626:p.Thr366Met					HPN_uc002nxr.2_Missense_Mutation_p.T366M|HPN_uc010xsh.1_Missense_Mutation_p.T335M|HPN_uc002nxt.1_Missense_Mutation_p.T250M|LOC100128675_uc010xsi.2_Intron	p.T366M	NM_002151	NP_892028	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	1342	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		366			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1097C>T	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076588	0.76415	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.89415	-2.51;-2.51	5.13	4.09	0.47781	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.054529	0.64402	D	0.000001	D	0.91202	0.7228	L	0.49126	1.545	0.51482	D	0.999927	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.955;0.976;0.935	D	0.90208	0.4262	10	0.46703	T	0.11	.	10.6439	0.45608	0.0:0.9067:0.0:0.0933	.	338;366;366	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	M	366;366;338	ENSP00000262626:T366M;ENSP00000376060:T366M	ENSP00000262626:T366M	T	+	2	0	HPN	40248658	0.292000	0.24362	0.926000	0.36857	0.769000	0.43574	1.497000	0.35649	2.387000	0.81309	0.462000	0.41574	ACG		0.632	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151	
NUCB1	4924	broad.mit.edu	37	19	49414468	49414468	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:49414468C>G	ENST00000405315.4	+	5	773	c.439C>G	c.(439-441)Cat>Gat	p.H147D	NUCB1_ENST00000263273.5_Missense_Mutation_p.H147D|NUCB1_ENST00000407032.1_Missense_Mutation_p.H147D|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	147						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGAACCAGCATACATTCGA	0.552																																						uc002plb.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(439-441)Cat>Gat		Homo sapiens nucleobindin 1 (NUCB1), mRNA.							75.0	63.0	67.0					19																	49414468		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49414468C>G	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.439C>G	19.37:g.49414468C>G	ENSP00000385923:p.His147Asp					NUCB1_uc002pla.3_Missense_Mutation_p.H147D|Mir_324_uc021uxb.1_5'Flank	p.H147D	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	4	773	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	147					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.439C>G	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.005707|3.005707	0.54254|0.54254	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	T;T;T|.	0.19105|.	2.17;2.17;2.17|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.047792|.	0.85682|.	D|.	0.000000|.	T|T	0.69415|0.69415	0.3108|0.3108	L|L	0.55017|0.55017	1.72|1.72	0.49798|0.49798	D|D	0.999822|0.999822	P;P|.	0.46621|.	0.881;0.881|.	B;B|.	0.37692|.	0.256;0.256|.	T|T	0.67300|0.67300	-0.5705|-0.5705	10|5	0.28530|.	T|.	0.3|.	.|.	16.2298|16.2298	0.82323|0.82323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	147;147|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	D|R	147|116	ENSP00000385923:H147D;ENSP00000385211:H147D;ENSP00000263273:H147D|.	ENSP00000263273:H147D|.	H|S	+|+	1|3	0|2	NUCB1|NUCB1	54106280|54106280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	1.830000|1.830000	0.39131|0.39131	2.519000|2.519000	0.84933|0.84933	0.549000|0.549000	0.68633|0.68633	CAT|AGC		0.552	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
ZNF264	9422	broad.mit.edu	37	19	57722987	57722987	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:57722987G>A	ENST00000263095.6	+	4	936	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ZNF264_ENST00000536056.1_Silent_p.E174E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTGGACAGGAGCAAGTCTCTC	0.463																																						uc002qob.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(520-522)gaG>gaA		Homo sapiens zinc finger protein 264 (ZNF264), mRNA.							102.0	93.0	96.0					19																	57722987		2203	4300	6503	SO:0001819	synonymous_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57722987G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.522G>A	19.37:g.57722987G>A							p.E174E	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	936	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	174					A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	c.522G>A	CCDS33127.1																																																																																				0.463	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
TMEM198	130612	broad.mit.edu	37	2	220414057	220414057	+	Missense_Mutation	SNP	A	A	G	rs564632806		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr2:220414057A>G	ENST00000344458.2	+	5	1511	c.926A>G	c.(925-927)aAt>aGt	p.N309S	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.N309S			Q66K66	TM198_HUMAN	transmembrane protein 198	309					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAACGCTTCAATGGAGACGTC	0.627													A|||	1	0.000199681	0.0	0.0	5008	,	,		17002	0.0		0.0	False		,,,				2504	0.001					uc002vme.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(925-927)aAt>aGt		Homo sapiens transmembrane protein 198 (TMEM198), mRNA.							38.0	39.0	38.0					2																	220414057		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414057A>G	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.926A>G	2.37:g.220414057A>G	ENSP00000343507:p.Asn309Ser					TMEM198_uc002vmf.3_Missense_Mutation_p.N309S|MIR3132_uc021vxc.1_5'Flank	p.N309S	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1511	+		Renal(207;0.0376)	309						Missense_Mutation	SNP	ENST00000344458.2	37	c.926A>G	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718890	0.30503	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.62	4.46	0.54185	.	0.057296	0.64402	D	0.000002	T	0.23806	0.0576	N	0.08118	0	0.32329	N	0.561339	B	0.22909	0.077	B	0.20184	0.028	T	0.20840	-1.0263	9	0.09084	T	0.74	-10.1579	11.0287	0.47759	0.9265:0.0:0.0735:0.0	.	309	Q66K66	TM198_HUMAN	S	309	.	ENSP00000343507:N309S	N	+	2	0	TMEM198	220122301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.275000	0.75901	0.528000	0.53228	AAT		0.627	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	
CHGB	1114	broad.mit.edu	37	20	5904212	5904212	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr20:5904212C>T	ENST00000378961.4	+	4	1626	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	474						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATCTCAACTACGGTGAGGAAG	0.507																																						uc002wmg.3																			0		p.N473Y(1)|p.N473S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1420-1422)taC>taT		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							81.0	84.0	83.0					20																	5904212		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904212C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1422C>T	20.37:g.5904212C>T						CHGB_uc010zqz.2_Silent_p.Y157Y	p.Y474Y	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	1728	+			474					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1422C>T	CCDS13092.1																																																																																				0.507	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
TRPM2	7226	broad.mit.edu	37	21	45825917	45825917	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr21:45825917G>A	ENST00000397928.1	+	18	3232	c.2787G>A	c.(2785-2787)cgG>cgA	p.R929R	TRPM2_ENST00000300482.5_Silent_p.R929R|TRPM2_ENST00000300481.9_Silent_p.R909R|TRPM2_ENST00000397932.2_Silent_p.R929R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	929					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTGAAGCGGATGGTAAGGG	0.627																																						uc010gpt.1																			0		p.R929W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2785-2787)cgG>cgA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							96.0	108.0	104.0					21																	45825917		2203	4297	6500	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45825917G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2787G>A	21.37:g.45825917G>A						TRPM2_uc002zet.1_Silent_p.R929R|TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	p.R929R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2887	+			929					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2787G>A	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TGFBR2	7048	broad.mit.edu	37	3	30732972	30732972	+	Missense_Mutation	SNP	C	C	T	rs201601508		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:30732972C>T	ENST00000295754.5	+	7	1967	c.1585C>T	c.(1585-1587)Ctc>Ttc	p.L529F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L554F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	529	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAGGCCCGTCTCACAGCCCA	0.592																																						uc003ceo.3																			0		p.R528C(2)|p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064335	TGFBR2	M		c.(1585-1587)Ctc>Ttc		Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.							73.0	69.0	70.0					3																	30732972		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732972C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1585C>T	3.37:g.30732972C>T	ENSP00000295754:p.Leu529Phe					TGFBR2_uc003cen.3_Missense_Mutation_p.L554F	p.L529F	NM_003242	NP_003233	P37173	TGFR2_HUMAN			6	1967	+			529			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1585C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330082	0.95733	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94000	-3.33;-3.33	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96788	0.9580	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	529;554	P37173;D2JYI1	TGFR2_HUMAN;.	F	529;554;359	ENSP00000295754:L529F;ENSP00000351905:L554F	ENSP00000295754:L529F	L	+	1	0	TGFBR2	30707976	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	CTC		0.592	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
CELSR3	1951	broad.mit.edu	37	3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	rs144228630		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:48696782C>T	ENST00000164024.4	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E1096K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532																																						uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3496-3498)Gaa>Aaa		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.		C	LYS/GLU	0,4406		0,0,2203	90.0	88.0	89.0		3286	4.9	1.0	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1096/3313	48696782	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696782C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3286G>A	3.37:g.48696782C>T	ENSP00000164024:p.Glu1096Lys					CELSR3_uc003cul.3_Missense_Mutation_p.E1096K	p.E1166K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	3496	-			1096			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3496G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699630	0.68501	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52295	0.67;0.67	5.78	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62196	0.2408	M	0.62723	1.935	0.58432	D	0.999999	D;P	0.60160	0.987;0.867	P;B	0.58721	0.844;0.214	T	0.65434	-0.6169	9	0.54805	T	0.06	.	16.1525	0.81632	0.1346:0.8654:0.0:0.0	.	1096;1166	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1096	ENSP00000164024:E1096K;ENSP00000445694:E1096K	ENSP00000164024:E1096K	E	-	1	0	CELSR3	48671786	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	6.089000	0.71384	1.428000	0.47296	0.561000	0.74099	GAA		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
BSN	8927	broad.mit.edu	37	3	49699300	49699300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:49699300C>T	ENST00000296452.4	+	6	10136	c.10022C>T	c.(10021-10023)cCc>cTc	p.P3341L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3341					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCATGGGGCCCAAGCATCCC	0.572																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10021-10023)cCc>cTc		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							40.0	42.0	42.0					3																	49699300		2202	4300	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699300C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10022C>T	3.37:g.49699300C>T	ENSP00000296452:p.Pro3341Leu						p.P3341L	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	10136	+			3341					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10022C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898564	0.17686	.	.	ENSG00000164061	ENST00000296452	T	0.18338	2.22	5.49	3.59	0.41128	.	0.068876	0.64402	D	0.000017	T	0.11024	0.0269	L	0.36672	1.1	0.42471	D	0.992821	B	0.22800	0.075	B	0.14023	0.01	T	0.10753	-1.0616	10	0.12103	T	0.63	-15.3571	7.9277	0.29885	0.3096:0.6116:0.0:0.0788	.	3341	Q9UPA5	BSN_HUMAN	L	3341	ENSP00000296452:P3341L	ENSP00000296452:P3341L	P	+	2	0	BSN	49674304	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.557000	0.53741	1.321000	0.45227	0.561000	0.74099	CCC		0.572	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
CLDN18	51208	broad.mit.edu	37	3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:137717874G>A	ENST00000343735.4	+	1	298	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	55					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602																																						uc003ero.1																			0		p.V54M(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(163-165)cGa>cAa		Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.							89.0	86.0	87.0					3																	137717874		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717874G>A	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.164G>A	3.37:g.137717874G>A	ENSP00000340939:p.Arg55Gln						p.R55Q	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			0	217	+			55					A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	c.164G>A	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946867	0.34377	.	.	ENSG00000066405	ENST00000343735	D	0.88509	-2.39	4.28	4.28	0.50868	.	0.316676	0.24583	N	0.037288	T	0.81564	0.4849	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.14578	0.011	T	0.76052	-0.3100	9	0.27082	T	0.32	.	10.8678	0.46866	0.087:0.0:0.913:0.0	.	55	P56856-2	.	Q	55	ENSP00000340939:R55Q	ENSP00000340939:R55Q	R	+	2	0	CLDN18	139200564	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	4.123000	0.57917	2.380000	0.81148	0.563000	0.77884	CGA		0.602	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026	
ATP10D	57205	broad.mit.edu	37	4	47575010	47575010	+	Missense_Mutation	SNP	A	A	T	rs371072531		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:47575010A>T	ENST00000273859.3	+	18	3631	c.3362A>T	c.(3361-3363)aAt>aTt	p.N1121I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1121					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATAAGAATGTGGTATGT	0.433																																						uc003gxk.1																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3361-3363)aAt>aTt		Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.							203.0	195.0	198.0					4																	47575010		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47575010A>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3362A>T	4.37:g.47575010A>T	ENSP00000273859:p.Asn1121Ile					ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	p.N1121I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			17	3526	+			1121					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3362A>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700362	0.88924	.	.	ENSG00000145246	ENST00000273859	D	0.92099	-2.97	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99640	1.0988	10	0.87932	D	0	-27.5014	15.5142	0.75809	1.0:0.0:0.0:0.0	.	1121	Q9P241	AT10D_HUMAN	I	1121	ENSP00000273859:N1121I	ENSP00000273859:N1121I	N	+	2	0	ATP10D	47269767	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.139000	0.94554	2.243000	0.73865	0.528000	0.53228	AAT		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
KIAA1211	57482	broad.mit.edu	37	4	57189704	57189704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:57189704delA	ENST00000504228.1	+	7	3454	c.3349delA	c.(3349-3351)aaafs	p.K1117fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.K1110fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.K1117fs			Q6ZU35	K1211_HUMAN	KIAA1211	1117										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGAGAGGCCAAACAGGCAGA	0.507																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3349-3351)aaafs		Homo sapiens KIAA1211 (KIAA1211), mRNA.							71.0	85.0	80.0					4																	57189704		1944	4129	6073	SO:0001589	frameshift_variant	57482							g.chr4:57189704delA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3349delA	4.37:g.57189704delA	ENSP00000423366:p.Lys1117fs					KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	p.K1117fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3740	+	Glioma(25;0.08)|all_neural(26;0.101)		1117					Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	37	c.3349delA	CCDS43230.1																																																																																				0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
TLR2	7097	broad.mit.edu	37	4	154626088	154626088	+	Missense_Mutation	SNP	C	C	T	rs121917864		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:154626088C>T	ENST00000260010.6	+	1	3437	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	677	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		R -> W. {ECO:0000269|PubMed:11476982, ECO:0000269|PubMed:12646604}.		apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCTTCATAAGCGGGACTTCAT	0.443																																						uc003inq.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	GRCh37	CM015327	TLR2	M	rs121917864	c.(2029-2031)Cgg>Tgg		Homo sapiens toll-like receptor 2 (TLR2), mRNA.							78.0	78.0	78.0					4																	154626088		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626088C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2029C>T	4.37:g.154626088C>T	ENSP00000260010:p.Arg677Trp					TLR2_uc003inr.3_Missense_Mutation_p.R677W|TLR2_uc003ins.3_Missense_Mutation_p.R677W|TLR2_uc021xtl.1_Missense_Mutation_p.R677W	p.R677W	NM_003264	NP_003255	O60603	TLR2_HUMAN			2	2248	+	all_hematologic(180;0.093)	Renal(120;0.117)	677		R -> W.	TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.2029C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906240	0.52333	.	.	ENSG00000137462	ENST00000260010	T	0.12672	2.66	5.83	3.93	0.45458	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065730	0.64402	D	0.000012	T	0.48187	0.1486	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62520	-0.6837	10	0.87932	D	0	.	14.9308	0.70914	0.279:0.721:0.0:0.0	.	677	O60603	TLR2_HUMAN	W	677	ENSP00000260010:R677W	ENSP00000260010:R677W	R	+	1	2	TLR2	154845538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.065000	0.41442	2.758000	0.94735	0.655000	0.94253	CGG		0.443	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
DNAH5	1767	broad.mit.edu	37	5	13735337	13735337	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:13735337G>A	ENST00000265104.4	-	68	11768	c.11664C>T	c.(11662-11664)taC>taT	p.Y3888Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3888					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3888*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCTCCTCGTACAGCCCTC	0.458									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)	p.Y3888*(2)	lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11662-11664)taC>taT		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							127.0	113.0	118.0					5																	13735337		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735337G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11664C>T	5.37:g.13735337G>A						DNAH5_uc003jfc.2_Silent_p.Y56Y	p.Y3888Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			67	11706	-	Lung NSC(4;0.00476)		3888					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11664C>T	CCDS3882.1																																																																																				0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PCDHA12	56137	broad.mit.edu	37	5	140256980	140256980	+	Silent	SNP	C	C	T	rs375548936		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:140256980C>T	ENST00000398631.2	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGCGGACGCTCCGCGCC	0.692													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15912	0.0		0.0	False		,,,				2504	0.0				Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1921-1923)gaC>gaT		Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.		C	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	159.0	150.0	153.0		,,,1923,,,,,,,,,,,,1923	-1.0	0.0	5		153	0,8598		0,0,4299	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,	,,,641/942,,,,,,,,,,,,641/793	140256980	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56137				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140256980C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1923C>T	5.37:g.140256980C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.D641D	p.D641D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2050	+			652			Cadherin 6.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1923C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
IL12B	3593	broad.mit.edu	37	5	158743755	158743755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:158743755G>A	ENST00000231228.2	-	7	1380	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	309	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGGCCCGCACGCTAATG	0.562											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lxr.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(925-927)Cgg>Tgg		Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.							79.0	70.0	73.0					5																	158743755		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158743755G>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.925C>T	5.37:g.158743755G>A	ENSP00000231228:p.Arg309Trp		OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1796	RNU4ATAC_uc021ygw.1_5'Flank	p.R309W	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	967	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	309			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000231228.2	37	c.925C>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184772	0.57909	.	.	ENSG00000113302	ENST00000231228	T	0.50813	0.73	6.03	5.15	0.70609	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.369101	0.31438	N	0.007649	T	0.59155	0.2173	M	0.72118	2.19	0.29848	N	0.828672	D	0.71674	0.998	P	0.53722	0.733	T	0.64753	-0.6333	10	0.87932	D	0	-1.4092	12.6888	0.56962	0.0:0.0:0.8352:0.1648	.	309	P29460	IL12B_HUMAN	W	309	ENSP00000231228:R309W	ENSP00000231228:R309W	R	-	1	2	IL12B	158676333	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	1.952000	0.40343	1.537000	0.49254	-0.182000	0.12963	CGG		0.562	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
KDM1B	221656	broad.mit.edu	37	6	18207666	18207666	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:18207666C>T	ENST00000297792.5	+	12	1178	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.A334V|KDM1B_ENST00000388870.2_Missense_Mutation_p.A566V			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	566	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAATTCTTTGCCCAGTTTGCT	0.502																																						uc003nco.1																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1087-1089)gCc>gTc		Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.							142.0	122.0	129.0					6																	18207666		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18207666C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1001C>T	6.37:g.18207666C>T	ENSP00000297792:p.Ala334Val					KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	p.A363V	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			8	1163	+			566			SWIRM.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1088C>T	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.614330|5.614330	0.96649|0.96649	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.91894|.	-2.93;-2.93;-2.93|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Amine oxidase (1);|.	0.227351|.	0.43110|.	D|.	0.000602|.	T|T	0.64627|0.64627	0.2615|0.2615	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.983;0.996|.	T|T	0.59653|0.59653	-0.7414|-0.7414	10|5	0.52906|.	T|.	0.07|.	-10.7827|-10.7827	19.9598|19.9598	0.97242|0.97242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	566;334|.	Q8NB78;A2A2C6|.	KDM1B_HUMAN;.|.	V|S	566;334;334;566|383	ENSP00000373522:A566V;ENSP00000380419:A334V;ENSP00000297792:A334V|.	ENSP00000297792:A334V|.	A|P	+|+	2|1	0|0	KDM1B|KDM1B	18315645|18315645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.729000|7.729000	0.84864|0.84864	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.502	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
HIST1H3J	8356	broad.mit.edu	37	6	27858448	27858451	+	Frame_Shift_Del	DEL	GCGG	GCGG	-			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:27858448_27858451delGCGG	ENST00000359303.2	-	1	119_122	c.120_123delCCGC	c.(118-123)caccgcfs	p.HR40fs	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	40					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTGGCCTGTAGCGGTGGGGCTTCT	0.632																																						uc003nka.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(118-123)caccgcfs		Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.																																				SO:0001589	frameshift_variant	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858448_27858451delGCGG	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.120_123delCCGC	6.37:g.27858448_27858451delGCGG	ENSP00000352252:p.His40fs					HIST1H2BO_uc003nkc.1_5'Flank	p.H40fs	NM_003535	NP_066298	P68431	H31_HUMAN			0	120_123	-			40					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000359303.2	37	c.120_123delCCGC	CCDS4638.1																																																																																				0.632	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535	
PRSS35	167681	broad.mit.edu	37	6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:84233953C>T	ENST00000369700.3	+	2	970	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R265*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527																																						uc003pjz.3																			0		p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(793-795)Cga>Tga		Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.							57.0	61.0	59.0					6																	84233953		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233953C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.793C>T	6.37:g.84233953C>T	ENSP00000358714:p.Arg265*					PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265*	p.R265*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	1	1033	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	265			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.793C>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452436	0.63290	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.91	3.48	0.39840	.	0.260062	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5274	12.8076	0.57622	0.7302:0.2698:0.0:0.0	.	.	.	.	X	265	.	ENSP00000358714:R265X	R	+	1	2	PRSS35	84290672	0.984000	0.35163	0.001000	0.08648	0.161000	0.22273	2.817000	0.48034	0.474000	0.27392	-0.521000	0.04368	CGA		0.527	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
WISP3	8838	broad.mit.edu	37	6	112385979	112385979	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:112385979A>G	ENST00000368666.2	+	3	654	c.368A>G	c.(367-369)gAg>gGg	p.E123G	WISP3_ENST00000368663.3_Missense_Mutation_p.E100G|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000361714.1_Missense_Mutation_p.E141G|WISP3_ENST00000604763.1_Missense_Mutation_p.E123G|WISP3_ENST00000230529.5_Missense_Mutation_p.E123G	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	123					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTTGGGTGCGAGTTCAACCAG	0.458																																						uc003pvo.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(421-423)gAg>gGg		Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.							180.0	157.0	165.0					6																	112385979		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112385979A>G	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.368A>G	6.37:g.112385979A>G	ENSP00000357655:p.Glu123Gly					WISP3_uc003pvm.3_Missense_Mutation_p.E123G|WISP3_uc003pvn.3_Non-coding_Transcript	p.E141G	NM_198239	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	2	558	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	123					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.422A>G	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905020	0.72868	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.45	5.45	0.79879	.	0.044694	0.85682	D	0.000000	T	0.74359	0.3706	M	0.85299	2.745	0.50632	D	0.999883	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.921	T	0.74106	-0.3772	10	0.25106	T	0.35	-5.0711	15.8118	0.78571	1.0:0.0:0.0:0.0	.	141;123	O95389-2;O95389	.;WISP3_HUMAN	G	123;123;141;123;100	ENSP00000357655:E123G;ENSP00000230529:E123G;ENSP00000354734:E141G;ENSP00000357652:E100G	ENSP00000230529:E123G	E	+	2	0	WISP3	112492672	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	8.577000	0.90773	2.197000	0.70478	0.459000	0.35465	GAG		0.458	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
GPR141	353345	broad.mit.edu	37	7	37780069	37780069	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37780069T>A	ENST00000447769.1	+	4	363	c.74T>A	c.(73-75)tTc>tAc	p.F25Y	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F25Y|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCTCTACTTCATAGTGCTT	0.493																																						uc003tfm.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(73-75)tTc>tAc		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							140.0	147.0	145.0					7																	37780069		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780069T>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.74T>A	7.37:g.37780069T>A	ENSP00000390410:p.Phe25Tyr					BC043356_uc003tfl.3_Intron	p.F25Y	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	74	+			25					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.74T>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401870	0.25291	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.38560	1.13;1.13;1.13	5.18	-2.22	0.06952	.	1.115670	0.06686	N	0.768775	T	0.25865	0.0630	L	0.27053	0.805	0.09310	N	1	B	0.30542	0.284	B	0.28553	0.091	T	0.23547	-1.0185	10	0.17369	T	0.5	-0.3253	8.2844	0.31920	0.0:0.229:0.1362:0.6348	.	25	Q7Z602	GP141_HUMAN	Y	25	ENSP00000396300:F25Y;ENSP00000390410:F25Y;ENSP00000334540:F25Y	ENSP00000334540:F25Y	F	+	2	0	GPR141	37746594	0.007000	0.16637	0.012000	0.15200	0.048000	0.14542	0.382000	0.20635	-0.121000	0.11787	0.528000	0.53228	TTC		0.493	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
NME8	51314	broad.mit.edu	37	7	37923971	37923971	+	Missense_Mutation	SNP	C	C	T	rs144650767		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37923971C>T	ENST00000199447.4	+	13	1433	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.S354L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	354	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GTAGTATTATCGGAAAAAGAA	0.294																																						uc003tfn.3																			0											c.(1060-1062)tCg>tTg		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.		C	LEU/SER	0,4406		0,0,2203	83.0	80.0	81.0		1061	3.9	0.7	7	dbSNP_134	81	1,8591	1.2+/-3.3	0,1,4295	no	missense	TXNDC3	NM_016616.4	145	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	354/589	37923971	1,12997	2203	4296	6499	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37923971C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1061C>T	7.37:g.37923971C>T	ENSP00000199447:p.Ser354Leu						p.S354L	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1433	+			354			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1061C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682447	0.47991	0.0	1.16E-4	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.57107	0.42;0.42	3.91	3.91	0.45181	.	0.176130	0.27792	N	0.017827	T	0.71986	0.3405	M	0.86420	2.815	0.38490	D	0.947956	D	0.63046	0.992	P	0.61070	0.883	T	0.80058	-0.1541	10	0.87932	D	0	-17.4456	13.9272	0.63970	0.0:1.0:0.0:0.0	.	354	Q8N427	TXND3_HUMAN	L	354	ENSP00000199447:S354L;ENSP00000397063:S354L	ENSP00000199447:S354L	S	+	2	0	TXNDC3	37890496	0.999000	0.42202	0.690000	0.30148	0.046000	0.14306	3.986000	0.56937	2.482000	0.83794	0.580000	0.79431	TCG		0.294	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
AMPH	273	broad.mit.edu	37	7	38530706	38530706	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:38530706C>T	ENST00000356264.2	-	5	555	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	AMPH_ENST00000325590.5_Missense_Mutation_p.V114M|AMPH_ENST00000428293.2_Missense_Mutation_p.V114M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.V114M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCCATCCACGAGTTTTTGA	0.403																																						uc003tgu.3																			1	Substitution - Missense(1)	p.V114M(2)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(340-342)Gtg>Atg		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.							164.0	160.0	161.0					7																	38530706		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530706C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.340G>A	7.37:g.38530706C>T	ENSP00000348602:p.Val114Met					AMPH_uc003tgv.3_Missense_Mutation_p.V114M	p.V114M	NM_001635	NP_001626	P49418	AMPH_HUMAN			4	556	-			114			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.340G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433310	0.83776	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	5.36	0.76844	BAR (3);	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81775	-0.0778	10	0.51188	T	0.08	-22.8042	17.8497	0.88742	0.0:1.0:0.0:0.0	.	114;114	P49418-2;P49418	.;AMPH_HUMAN	M	114	ENSP00000317441:V114M;ENSP00000348602:V114M;ENSP00000390734:V114M	ENSP00000317441:V114M	V	-	1	0	AMPH	38497231	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.797000	0.75150	2.512000	0.84698	0.460000	0.39030	GTG		0.403	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
ABCB4	5244	broad.mit.edu	37	7	87035603	87035603	+	Splice_Site	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:87035603C>T	ENST00000265723.4	-	26	3619		c.e26+1		ABCB4_ENST00000358400.3_Splice_Site|ABCB4_ENST00000359206.3_Splice_Site|ABCB4_ENST00000545634.1_Splice_Site|ABCB4_ENST00000453593.1_Splice_Site	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4						cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTTAACTTACGTGGGGTAAC	0.393																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e26+1		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							118.0	112.0	114.0					7																	87035603		2203	4300	6503	SO:0001630	splice_region_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035603C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3507+1G>A	7.37:g.87035603C>T						ABCB4_uc003uiw.1_Splice_Site_p.H1162_splice|ABCB4_uc003uix.1_Splice_Site_p.H1115_splice	p.H1169_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN			26	3583	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1169			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Splice_Site	SNP	ENST00000265723.4	37	c.3507_splice	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812317	0.32053	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5955	0.68403	0.0:0.9298:0.0:0.0702	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB4	86873539	1.000000	0.71417	0.883000	0.34634	0.118000	0.20060	7.674000	0.83992	1.473000	0.48159	0.557000	0.71058	.		0.393	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	Intron
SAMD9L	219285	broad.mit.edu	37	7	92763951	92763951	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:92763951T>C	ENST00000318238.4	-	5	2550	c.1334A>G	c.(1333-1335)gAg>gGg	p.E445G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E445G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E445G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	445					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATCAAACTCCAACACAGC	0.343																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1333-1335)gAg>gGg		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							69.0	70.0	70.0					7																	92763951		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763951T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1334A>G	7.37:g.92763951T>C	ENSP00000326247:p.Glu445Gly					SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc022ahh.1_Missense_Mutation_p.E445G	p.E445G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	2550	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		445					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1334A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069284	0.55539	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13778	2.56;2.56;2.56	4.74	4.74	0.60224	.	0.239962	0.30374	N	0.009767	T	0.19005	0.0456	L	0.46157	1.445	0.41726	D	0.989534	P	0.46142	0.873	P	0.46659	0.523	T	0.01266	-1.1401	10	0.72032	D	0.01	-4.3283	14.0508	0.64734	0.0:0.0:0.0:1.0	.	445	Q8IVG5	SAM9L_HUMAN	G	445	ENSP00000326247:E445G;ENSP00000405760:E445G;ENSP00000408796:E445G	ENSP00000326247:E445G	E	-	2	0	SAMD9L	92601887	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.796000	0.85898	1.991000	0.58162	0.377000	0.23210	GAG		0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
TFPI2	7980	broad.mit.edu	37	7	93518519	93518519	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(286-288)tgC>tgT		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							58.0	69.0	66.0					7																	93518519		2202	4299	6501	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93518519G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.288C>T	7.37:g.93518519G>A						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C	p.C96C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	363	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		96			BPTI/Kunitz inhibitor 2.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.288C>T	CCDS5632.1																																																																																				0.398	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
CYP3A43	64816	broad.mit.edu	37	7	99447306	99447306	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:99447306T>C	ENST00000354829.2	+	7	762	c.659T>C	c.(658-660)tTa>tCa	p.L220S	CYP3A43_ENST00000222382.5_Missense_Mutation_p.L220S|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Silent_p.F82F|CYP3A43_ENST00000312017.5_Missense_Mutation_p.L220S	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	220			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GATCCCTTTTTACTCTTAATA	0.294																																						uc003ury.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(658-660)tTa>tCa		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	Cetirizine(DB00341)|Doxycycline(DB00254)						64.0	64.0	64.0					7																	99447306		2202	4300	6502	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99447306T>C	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.659T>C	7.37:g.99447306T>C	ENSP00000346887:p.Leu220Ser					CYP3A43_uc003urx.1_Missense_Mutation_p.L220S|CYP3A43_uc003urz.1_Missense_Mutation_p.L220S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.F82F	p.L220S	NM_022820	NP_073731	Q9HB55	CP343_HUMAN			6	762	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		220		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.659T>C	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824764	0.32237	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.68765	-0.35;-0.35;-0.35	3.14	1.73	0.24493	.	0.779508	0.12210	N	0.489379	T	0.63141	0.2486	L	0.57130	1.785	0.80722	D	1	B;B;B	0.31503	0.264;0.326;0.326	B;B;B	0.38921	0.187;0.285;0.209	T	0.59327	-0.7475	10	0.62326	D	0.03	.	5.6767	0.17753	0.0:0.2068:0.0:0.7932	.	220;220;220	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	S	220	ENSP00000346887:L220S;ENSP00000312110:L220S;ENSP00000222382:L220S	ENSP00000222382:L220S	L	+	2	0	CYP3A43	99285242	0.673000	0.27539	0.000000	0.03702	0.524000	0.34500	5.110000	0.64622	0.248000	0.21435	0.164000	0.16699	TTA		0.294	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
NAT16	375607	broad.mit.edu	37	7	100816793	100816793	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:100816793C>T	ENST00000300303.2	-	3	559	c.321G>A	c.(319-321)ctG>ctA	p.L107L	NAT16_ENST00000455377.1_Silent_p.L107L	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	107	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										TCACCGACTCCAGCGCGATCT	0.736																																						uc003uxy.2																			0											c.(319-321)ctG>ctA		Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.							19.0	20.0	20.0					7																	100816793		2195	4289	6484	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100816793C>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.321G>A	7.37:g.100816793C>T						NAT16_uc003uxz.2_Silent_p.L107L	p.L107L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			2	560	-			107			N-acetyltransferase.		B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.321G>A	CCDS5713.1																																																																																				0.736	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571	
PRSS3P1	168330	broad.mit.edu	37	7	142468304	142468305	+	IGR	INS	-	-	TA			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:142468304_142468305insTA								PRSS1 (7383 upstream) : PRSS3P2 (10534 downstream)																							GGAGCTGCTGGCGAGTTTCATG	0.54																																						uc003vzp.2																			0													SubName: Full=V_segment translation product; Flags: Fragment;																																				SO:0001628	intergenic_variant	154754							g.chr7:142468304_142468305insTA																													7.37:g.142468304_142468305insTA						TRBV5-1_uc011krr.1_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|TCRB_uc011ksp.1_5'Flank										+									Splice_Site	INS		37																																																																																					0	0.540								
CTAGE4	100128553	broad.mit.edu	37	7	143882703	143882703	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:143882703G>A	ENST00000486333.1	+	1	2145	c.2107G>A	c.(2107-2109)Ggt>Agt	p.G703S		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	703	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCCAATCAGCGGTCCATTGTT	0.502																																						uc010lpc.3																			0				endometrium(1)|ovary(2)	3						c.(2107-2109)Ggt>Agt		Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.							10.0	12.0	11.0					7																	143882703		655	1495	2150	SO:0001583	missense	100128553					integral to membrane		g.chr7:143882703G>A	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2107G>A	7.37:g.143882703G>A	ENSP00000419539:p.Gly703Ser						p.G703S	NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN			0	2156	+			703			Pro-rich.		A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	c.2107G>A	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	5.850	0.341078	0.11069	.	.	ENSG00000225932	ENST00000486333	T	0.09073	3.02	.	.	.	.	.	.	.	.	T	0.09202	0.0227	M	0.77103	2.36	0.09310	N	1	P	0.39060	0.657	B	0.32533	0.147	T	0.23368	-1.0190	7	0.29301	T	0.29	.	.	.	.	.	703	Q8IX94	CTGE4_HUMAN	S	703	ENSP00000419539:G703S	ENSP00000419539:G703S	G	+	1	0	CTAGE4	143513636	0.997000	0.39634	0.013000	0.15412	0.014000	0.08584	0.488000	0.22371	0.172000	0.19760	0.175000	0.17021	GGT		0.502	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495	
ADAM32	203102	broad.mit.edu	37	8	39080734	39080734	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39080734G>A	ENST00000379907.4	+	14	1629	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	ADAM32_ENST00000519315.1_Missense_Mutation_p.R395H|ADAM32_ENST00000437682.2_Missense_Mutation_p.R402H	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	501	Cys-rich.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCGATGCACGTTGTGAGAGT	0.338																																						uc003xmt.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1501-1503)cGt>cAt		Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.							53.0	51.0	52.0					8																	39080734		1896	4114	6010	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39080734G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1502G>A	8.37:g.39080734G>A	ENSP00000369238:p.Arg501His					ADAM32_uc011lch.2_Missense_Mutation_p.R402H|ADAM32_uc003xmu.4_Missense_Mutation_p.R395H|ADAM32_uc003xmv.3_Missense_Mutation_p.V23I	p.R501H	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		13	1747	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	501			Cys-rich.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1502G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980193	0.34942	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.22336	1.96;1.96;1.96	5.55	-1.39	0.08997	ADAM, cysteine-rich (2);	1.762100	0.03866	N	0.274897	T	0.22322	0.0538	N	0.16602	0.42	0.09310	N	1	D;B;B	0.64830	0.994;0.397;0.017	P;B;B	0.62014	0.897;0.025;0.023	T	0.11743	-1.0575	10	0.54805	T	0.06	.	0.6898	0.00889	0.2765:0.1258:0.341:0.2566	.	402;395;501	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	H	402;395;501	ENSP00000405978:R402H;ENSP00000429422:R395H;ENSP00000369238:R501H	ENSP00000369238:R501H	R	+	2	0	ADAM32	39199891	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.743000	0.04845	-0.225000	0.09913	-0.169000	0.13324	CGT		0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
IDO1	3620	broad.mit.edu	37	8	39785510	39785510	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39785510G>C	ENST00000518237.1	+	10	1657	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	IDO1_ENST00000522495.1_Missense_Mutation_p.V340L|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	340					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GAAAGCTCTGGTCTCCCTGAG	0.498																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(1018-1020)Gtc>Ctc		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)						53.0	50.0	51.0					8																	39785510		1972	4174	6146	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39785510G>C	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.1018G>C	8.37:g.39785510G>C	ENSP00000430950:p.Val340Leu						p.V340L	NM_002164	NP_002155	P14902	I23O1_HUMAN			9	1132	+			340					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.1018G>C	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709998	0.48517	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.42131	0.98;0.98	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000008	T	0.51500	0.1678	M	0.69248	2.105	0.35668	D	0.813129	P	0.50369	0.934	P	0.49953	0.627	T	0.61347	-0.7081	9	.	.	.	-30.2412	14.5883	0.68344	0.0:0.0:1.0:0.0	.	340	P14902	I23O1_HUMAN	L	340	ENSP00000430505:V340L;ENSP00000430950:V340L	.	V	+	1	0	IDO1	39904667	1.000000	0.71417	0.987000	0.45799	0.011000	0.07611	2.325000	0.43840	2.817000	0.96982	0.563000	0.77884	GTC		0.498	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
NIPAL2	79815	broad.mit.edu	37	8	99215392	99215392	+	Missense_Mutation	SNP	G	G	A	rs145862248		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:99215392G>A	ENST00000341166.3	-	8	1079	c.824C>T	c.(823-825)aCg>aTg	p.T275M	NIPAL2_ENST00000430223.2_Missense_Mutation_p.T275M|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	275						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTGTTGTCGTATTGTAGAG	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24112	0.0		0.0	False		,,,				2504	0.0					uc003yim.1																			0				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						c.(823-825)aCg>aTg		Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.		G	MET/THR	0,4406		0,0,2203	194.0	167.0	176.0		824	1.5	0.0	8	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NIPAL2	NM_024759.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	275/369	99215392	2,13004	2203	4300	6503	SO:0001583	missense	79815					integral to membrane		g.chr8:99215392G>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.824C>T	8.37:g.99215392G>A	ENSP00000339256:p.Thr275Met					NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yil.1_Missense_Mutation_p.T275M	p.T275M			Q9H841	NPAL2_HUMAN			7	1080	-			275					A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	c.824C>T	CCDS6278.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.597	-0.082407	0.07141	0.0	2.33E-4	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.90788	-2.73;-2.73	5.39	1.51	0.23008	.	0.276090	0.36338	N	0.002655	D	0.83358	0.5237	L	0.32530	0.975	0.09310	N	1	B;B	0.25667	0.131;0.039	B;B	0.26693	0.072;0.024	T	0.72354	-0.4319	10	0.41790	T	0.15	-5.7242	9.2729	0.37681	0.302:0.0:0.698:0.0	.	275;275	A2RTY8;Q9H841	.;NPAL2_HUMAN	M	275	ENSP00000407087:T275M;ENSP00000339256:T275M	ENSP00000339256:T275M	T	-	2	0	NIPAL2	99284568	0.057000	0.20700	0.002000	0.10522	0.127000	0.20565	1.106000	0.31098	0.330000	0.23485	-0.252000	0.11476	ACG		0.393	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759	
KANK1	23189	broad.mit.edu	37	9	730069	730069	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:730069C>G	ENST00000382303.1	+	8	3369	c.2717C>G	c.(2716-2718)aCc>aGc	p.T906S	KANK1_ENST00000382293.3_Missense_Mutation_p.T748S|KANK1_ENST00000382297.2_Missense_Mutation_p.T906S|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	906					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGGGATATACCTGTAAGTGT	0.473																																						uc003zgl.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(2716-2718)aCc>aGc		Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.							50.0	49.0	49.0					9																	730069		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:730069C>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2717C>G	9.37:g.730069C>G	ENSP00000371740:p.Thr906Ser					KANK1_uc003zgm.3_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	p.T906S	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3366	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	906					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2717C>G	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	2.169	-0.390340	0.04932	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.17691	2.26;2.26;2.26	5.48	0.877	0.19145	.	0.911025	0.09374	N	0.810952	T	0.09686	0.0238	L	0.27053	0.805	0.18873	N	0.999989	B;B	0.13594	0.008;0.002	B;B	0.11329	0.006;0.002	T	0.42865	-0.9426	10	0.11485	T	0.65	-0.4499	4.8193	0.13383	0.0:0.4828:0.1615:0.3556	.	906;906	Q5W0W1;Q14678	.;KANK1_HUMAN	S	906;906;906;748	ENSP00000371740:T906S;ENSP00000371734:T906S;ENSP00000371730:T748S	ENSP00000346479:T906S	T	+	2	0	KANK1	720069	0.000000	0.05858	0.151000	0.22473	0.051000	0.14879	0.348000	0.20031	0.267000	0.21916	0.655000	0.94253	ACC		0.473	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
RUSC2	9853	broad.mit.edu	37	9	35560384	35560384	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:35560384G>T	ENST00000455600.1	+	10	4316	c.3747G>T	c.(3745-3747)gaG>gaT	p.E1249D	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1249	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agacagaagaggtggcagagg	0.662																																						uc003zww.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3745-3747)gaG>gaT		Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.							25.0	32.0	30.0					9																	35560384		2202	4294	6496	SO:0001583	missense	9853					cytosol		g.chr9:35560384G>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3747G>T	9.37:g.35560384G>T	ENSP00000393922:p.Glu1249Asp					RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1249D	p.E1249D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		9	4002	+			1249			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3747G>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503313	0.26949	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.26223	1.75;1.75	5.19	0.867	0.19085	.	0.791890	0.11643	N	0.543606	T	0.13586	0.0329	N	0.24115	0.695	0.28113	N	0.930905	B	0.21071	0.051	B	0.21917	0.037	T	0.28681	-1.0036	10	0.23891	T	0.37	-3.9593	3.3091	0.07010	0.4283:0.0:0.3793:0.1923	.	1249	Q8N2Y8	RUSC2_HUMAN	D	1249	ENSP00000355177:E1249D;ENSP00000393922:E1249D	ENSP00000355177:E1249D	E	+	3	2	RUSC2	35550384	0.016000	0.18221	1.000000	0.80357	0.955000	0.61496	0.108000	0.15396	0.586000	0.29626	-0.254000	0.11334	GAG		0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
TMEM2	23670	broad.mit.edu	37	9	74305126	74305126	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:74305126C>T	ENST00000377044.4	-	22	4272	c.3733G>A	c.(3733-3735)Gtc>Atc	p.V1245I	TMEM2_ENST00000377066.5_Missense_Mutation_p.V1182I|TMEM2_ENST00000396272.3_Missense_Mutation_p.V238I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1245					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGGAGGACGCCTGCACTT	0.453																																						uc011lsa.1																			0		p.G1244G(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3733-3735)Gtc>Atc		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							115.0	93.0	100.0					9																	74305126		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74305126C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3733G>A	9.37:g.74305126C>T	ENSP00000366243:p.Val1245Ile					TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	p.V1245I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	21	4273	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1245					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3733G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	2.444	-0.327872	0.05314	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.71934	-0.61;-0.54;2.61	5.77	1.52	0.23074	.	0.516007	0.22037	N	0.065517	T	0.31765	0.0807	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32322	-0.9911	10	0.02654	T	1	.	3.2722	0.06886	0.1994:0.4476:0.2146:0.1385	.	1245;1182	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	1245;1182;238	ENSP00000366243:V1245I;ENSP00000366266:V1182I;ENSP00000379569:V238I	ENSP00000366243:V1245I	V	-	1	0	TMEM2	73494946	0.000000	0.05858	0.136000	0.22124	0.084000	0.17831	-0.907000	0.04067	0.362000	0.24319	0.650000	0.86243	GTC		0.453	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMC1	117531	broad.mit.edu	37	9	75387401	75387401	+	Missense_Mutation	SNP	A	A	T	rs111839361		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:75387401A>T	ENST00000297784.5	+	13	1354	c.814A>T	c.(814-816)Agg>Tgg	p.R272W	TMC1_ENST00000340019.3_Missense_Mutation_p.R272W|TMC1_ENST00000396237.3_Missense_Mutation_p.R272W	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	272					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGAATTTCAGGTTGCCGCT	0.398																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0		p.R272K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(814-816)Agg>Tgg		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							222.0	218.0	220.0					9																	75387401		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75387401A>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.814A>T	9.37:g.75387401A>T	ENSP00000297784:p.Arg272Trp					TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	p.R272W	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			12	1354	+			272					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.814A>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929575	0.73327	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.50813	0.73;0.73;0.73	5.57	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.89478	3.035	0.49483	D	0.999798	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.986;0.986;0.997	T	0.75260	-0.3380	10	0.72032	D	0.01	-23.2604	12.6673	0.56849	0.5901:0.4099:0.0:0.0	.	239;239;272	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	W	272;272;239;239;239;266;272	ENSP00000297784:R272W;ENSP00000341433:R272W;ENSP00000379538:R272W	ENSP00000297784:R272W	R	+	1	2	TMC1	74577221	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	1.313000	0.33585	0.424000	0.26061	0.528000	0.53228	AGG		0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
AGPAT2	10555	broad.mit.edu	37	9	139568283	139568283	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:139568283C>A	ENST00000371696.2	-	6	823	c.758G>T	c.(757-759)aGg>aTg	p.R253M	AGPAT2_ENST00000538402.1_Missense_Mutation_p.R253M|AGPAT2_ENST00000371694.3_Missense_Mutation_p.R221M	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	253					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGGTGGTCCTCATGGCCCG	0.682																																						uc004cii.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(757-759)aGg>aTg		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.							45.0	47.0	47.0					9																	139568283		2197	4296	6493	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139568283C>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.758G>T	9.37:g.139568283C>A	ENSP00000360761:p.Arg253Met					AGPAT2_uc004cij.1_Missense_Mutation_p.R221M	p.R253M	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	5	860	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	253					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.758G>T	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505005	0.44558	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.93189	-3.18;-3.18;-3.18	5.23	4.12	0.48240	.	0.124633	0.49305	D	0.000144	D	0.90731	0.7091	L	0.38692	1.165	0.47819	D	0.99952	P;P	0.40909	0.732;0.613	P;B	0.44696	0.458;0.269	D	0.90157	0.4225	10	0.40728	T	0.16	-8.1386	13.7886	0.63126	0.0:0.9115:0.0:0.0885	.	221;253	O15120-2;O15120	.;PLCB_HUMAN	M	221;253;253	ENSP00000360759:R221M;ENSP00000360761:R253M;ENSP00000438919:R253M	ENSP00000360759:R221M	R	-	2	0	AGPAT2	138688104	0.696000	0.27757	0.949000	0.38748	0.537000	0.34900	1.106000	0.31098	2.441000	0.82636	0.655000	0.94253	AGG		0.682	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412	
ASB11	140456	broad.mit.edu	37	X	15307657	15307657	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:15307657C>A	ENST00000480796.1	-	5	674	c.624G>T	c.(622-624)agG>agT	p.R208S	ASB11_ENST00000344384.4_Missense_Mutation_p.R187S|ASB11_ENST00000380470.3_Missense_Mutation_p.R191S|ASB11_ENST00000537676.1_Missense_Mutation_p.R187S			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	208					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CACAGTCTACCCTCTGGTAGG	0.408																																						uc004cwp.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(622-624)agG>agT		Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.							161.0	160.0	161.0					X																	15307657		2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15307657C>A	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.624G>T	X.37:g.15307657C>A	ENSP00000417914:p.Arg208Ser					ASB11_uc004cwo.2_Missense_Mutation_p.R187S|ASB11_uc010net.2_Missense_Mutation_p.R191S|ASB11_uc010nes.2_Non-coding_Transcript	p.R208S	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	643	-	Hepatocellular(33;0.183)		208					E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.624G>T	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661466	0.29515	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.58	1.8	0.24995	Ankyrin repeat-containing domain (4);	0.148757	0.48767	D	0.000174	T	0.54631	0.1870	N	0.04162	-0.26	0.30881	N	0.731381	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.87578	0.908;0.998;0.998	T	0.58381	-0.7646	10	0.41790	T	0.15	-4.1399	9.2461	0.37527	0.0:0.5174:0.0:0.4826	.	191;208;187	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	S	187;191;187;208	ENSP00000445465:R187S;ENSP00000369837:R191S;ENSP00000343408:R187S;ENSP00000417914:R208S	ENSP00000343408:R187S	R	-	3	2	ASB11	15217578	0.074000	0.21230	0.990000	0.47175	0.985000	0.73830	-0.414000	0.07114	-0.003000	0.14444	0.506000	0.49869	AGG		0.408	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		
GRPR	2925	broad.mit.edu	37	X	16170433	16170433	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:16170433G>A	ENST00000380289.2	+	3	1218	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	274					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGGCCTGTTCGCCTTCTGCTG	0.537																																						uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(820-822)Gcc>Acc		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							145.0	122.0	130.0					X																	16170433		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170433G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.820G>A	X.37:g.16170433G>A	ENSP00000369643:p.Ala274Thr						p.A274T	NM_005314	NP_005305	P30550	GRPR_HUMAN			2	1473	+	Hepatocellular(33;0.183)		274					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.820G>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991674	0.93106	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.72394	-0.65	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84540	0.0638	10	0.49607	T	0.09	-24.1622	17.2579	0.87062	0.0:0.0:1.0:0.0	.	274	P30550	GRPR_HUMAN	T	274;63	ENSP00000369643:A274T	ENSP00000369643:A274T	A	+	1	0	GRPR	16080354	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	9.476000	0.97823	2.287000	0.76781	0.600000	0.82982	GCC		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
FTHL17	53940	broad.mit.edu	37	X	31089888	31089888	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:31089888G>A	ENST00000359202.3	-	1	282	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.D61E(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCATTTTGTCGTCCGACAGGC	0.577																																						uc004dcl.1																			2	Substitution - Missense(2)	p.D61E(3)|p.S60S(1)|p.S60L(1)	lung(2)	endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(181-183)gaC>gaT		Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.							81.0	72.0	75.0					X																	31089888		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089888G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.183C>T	X.37:g.31089888G>A							p.D61D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			0	283	-			61			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.183C>T	CCDS14227.1																																																																																				0.577	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
PAGE2B	389860	broad.mit.edu	37	X	55103027	55103027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:55103027G>A	ENST00000374971.1	+	3	162	c.110G>A	c.(109-111)cGt>cAt	p.R37H	PAGE2B_ENST00000374974.3_Missense_Mutation_p.R37H	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	37										lung(3)	3						GAGGAAAAACGTCAAGAAGAG	0.443																																						uc004due.3																			0				lung(3)	3						c.(109-111)cGt>cAt		Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.							51.0	39.0	43.0					X																	55103027		2201	4296	6497	SO:0001583	missense	389860							g.chrX:55103027G>A		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.110G>A	X.37:g.55103027G>A	ENSP00000364110:p.Arg37His					PAGE2B_uc022bxk.1_Missense_Mutation_p.R37H	p.R37H	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN			2	162	+			37					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.110G>A	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	-	6.948	0.544668	0.13312	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.10477	2.87;2.87	1.08	0.0902	0.14462	.	.	.	.	.	T	0.11239	0.0274	M	0.63428	1.95	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.30679	-0.9970	9	0.59425	D	0.04	.	4.7178	0.12903	0.0:0.5648:0.4352:0.0	.	37	Q5JRK9	GGEE3_HUMAN	H	37	ENSP00000364113:R37H;ENSP00000364110:R37H	ENSP00000364110:R37H	R	+	2	0	PAGE2B	55119752	0.009000	0.17119	0.003000	0.11579	0.130000	0.20726	-0.174000	0.09839	-0.024000	0.13941	0.279000	0.19357	CGT		0.443	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224	
RPS6KA6	27330	broad.mit.edu	37	X	83320106	83320106	+	Missense_Mutation	SNP	T	T	C	rs149201069	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:83320106T>C	ENST00000262752.2	-	21	1992	c.1985A>G	c.(1984-1986)cAt>cGt	p.H662R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.H662R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	662	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGAAGCATATGGGAAAGCAA	0.338																																						uc004eej.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1984-1986)cAt>cGt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.		T	ARG/HIS	0,3835		0,0,0,1632,571	108.0	92.0	97.0		1985	3.6	1.0	X	dbSNP_134	97	8,6720		0,5,3,2423,1869	yes	missense	RPS6KA6	NM_014496.4	29	0,5,3,4055,2440	CC,CT,C,TT,T		0.1189,0.0,0.0757	benign	662/746	83320106	8,10555	2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83320106T>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1985A>G	X.37:g.83320106T>C	ENSP00000262752:p.His662Arg					RPS6KA6_uc011mqt.2_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H559R	p.H662R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			20	2021	-			662			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1985A>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297166	0.23650	0.0	0.001189	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.62788	-0.0;-0.0	4.77	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098040	0.64402	D	0.000001	T	0.28267	0.0698	N	0.00811	-1.165	0.58432	D	0.999995	B;B	0.06786	0.0;0.001	B;B	0.11329	0.006;0.006	T	0.03706	-1.1011	10	0.21540	T	0.41	.	9.6627	0.39965	0.0:0.0843:0.0:0.9157	.	662;662	B7ZL90;Q9UK32	.;KS6A6_HUMAN	R	662	ENSP00000262752:H662R;ENSP00000440830:H662R	ENSP00000262752:H662R	H	-	2	0	RPS6KA6	83206762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	0.599000	0.29845	0.486000	0.48141	CAT		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
