#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
SPTA1	6708	broad.mit.edu	37	1	158585171	158585171	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:158585171G>A	ENST00000368147.4	-	48	6803	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2208					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGCTTCATCGCCTGGATCTC	0.468																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6622-6624)gCg>gTg		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							150.0	145.0	147.0					1																	158585171		1913	4139	6052	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585171G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6623C>T	1.37:g.158585171G>A	ENSP00000357129:p.Ala2208Val						p.A2208V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			47	6822	-	all_hematologic(112;0.0378)		2208					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6623C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052548	0.55218	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.65	2.39	0.29439	.	0.272394	0.19537	N	0.111883	T	0.23766	0.0575	L	0.41710	1.295	0.43203	D	0.995051	B	0.26708	0.157	B	0.33196	0.159	T	0.14309	-1.0477	10	0.66056	D	0.02	.	7.9768	0.30159	0.1797:0.1358:0.6844:0.0	.	2208	P02549	SPTA1_HUMAN	V	2208;2205	ENSP00000357130:A2208V;ENSP00000357129:A2205V	ENSP00000357129:A2205V	A	-	2	0	SPTA1	156851795	1.000000	0.71417	0.758000	0.31321	0.967000	0.64934	4.893000	0.63199	0.820000	0.34516	0.655000	0.94253	GCG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SERPINC1	462	broad.mit.edu	37	1	173878724	173878724	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:173878724G>A	ENST00000367698.3	-	5	1237	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	373					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TGAACAGATCGACAAGGCCCA	0.527																																						uc001gjt.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1117-1119)gtC>gtT		Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						78.0	80.0	80.0					1																	173878724		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878724G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1119C>T	1.37:g.173878724G>A							p.V373V	NM_000488	NP_000479	P01008	ANT3_HUMAN			4	1238	-			373					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1119C>T	CCDS1313.1																																																																																				0.527	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488	
SYT2	127833	broad.mit.edu	37	1	202566072	202566072	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:202566072G>A	ENST00000367267.1	-	9	1265	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	SYT2_ENST00000367268.4_Missense_Mutation_p.T358I	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	358	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCCAGCACGGTGACCACTAC	0.547																																						uc001gye.3																			0		p.T358T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1072-1074)aCc>aTc		Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	Botulinum Toxin Type B(DB00042)						91.0	71.0	78.0					1																	202566072		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202566072G>A	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1073C>T	1.37:g.202566072G>A	ENSP00000356236:p.Thr358Ile					SYT2_uc010pqb.2_Missense_Mutation_p.T358I|SYT2_uc009xaf.3_Missense_Mutation_p.T188I	p.T358I	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1266	-			358			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.1073C>T	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684846	0.88639	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.70399	-0.48;-0.48	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.81250	-0.1018	10	0.62326	D	0.03	.	18.0076	0.89214	0.0:0.0:1.0:0.0	.	358	Q8N9I0	SYT2_HUMAN	I	358	ENSP00000356237:T358I;ENSP00000356236:T358I	ENSP00000356236:T358I	T	-	2	0	SYT2	200832695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.708000	0.98727	2.324000	0.78689	0.655000	0.94253	ACC		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
HSD11B1	3290	broad.mit.edu	37	1	209907741	209907741	+	Missense_Mutation	SNP	C	C	T	rs374552497		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:209907741C>T	ENST00000367028.2	+	7	923	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	HSD11B1_ENST00000367027.3_Missense_Mutation_p.R252C|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R252C	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	252					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GGGAGCTCTGCGCCAAGAAGA	0.463																																						uc001hhj.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(754-756)Cgc>Tgc		Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	NADH(DB00157)	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	113.0	105.0	108.0		754,754,754	5.9	0.4	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HSD11B1	NM_001206741.1,NM_005525.3,NM_181755.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	252/293,252/293,252/293	209907741	1,13005	2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209907741C>T	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.754C>T	1.37:g.209907741C>T	ENSP00000355995:p.Arg252Cys					HSD11B1_uc021pin.1_Missense_Mutation_p.R252C|HSD11B1_uc001hhk.3_Missense_Mutation_p.R252C	p.R252C	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	6	886	+			252					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.754C>T	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536563	0.85812	0.0	1.16E-4	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.85411	-1.98;-1.98;-1.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	M	0.89968	3.075	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.94334	0.7564	10	0.66056	D	0.02	.	19.1646	0.93551	0.0:1.0:0.0:0.0	.	252	P28845	DHI1_HUMAN	C	252	ENSP00000355995:R252C;ENSP00000261465:R252C;ENSP00000355994:R252C	ENSP00000261465:R252C	R	+	1	0	HSD11B1	207974364	0.962000	0.33011	0.390000	0.26220	0.920000	0.55202	2.979000	0.49313	2.824000	0.97209	0.655000	0.94253	CGC		0.463	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	
RYR2	6262	broad.mit.edu	37	1	237777626	237777626	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:237777626C>T	ENST00000366574.2	+	37	5515	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1731M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1717M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1733	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGAGGAGACGAAGAGCATC	0.557																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5197-5199)aCg>aTg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							64.0	64.0	64.0					1																	237777626		2123	4235	6358	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777626C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5198C>T	1.37:g.237777626C>T	ENSP00000355533:p.Thr1733Met						p.T1733M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5318	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1733			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5198C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528120	0.85706	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74421	-0.84;-0.84;-0.84	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	D	0.86669	0.5988	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.87615	0.2506	10	0.59425	D	0.04	.	19.2592	0.93961	0.0:1.0:0.0:0.0	.	1733	Q92736	RYR2_HUMAN	M	1733;1731;1717	ENSP00000355533:T1733M;ENSP00000353174:T1731M;ENSP00000443798:T1717M	ENSP00000353174:T1731M	T	+	2	0	RYR2	235844249	1.000000	0.71417	0.956000	0.39512	0.962000	0.63368	7.776000	0.85560	2.563000	0.86464	0.650000	0.86243	ACG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PTEN	5728	broad.mit.edu	37	10	89690819	89690820	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:89690819_89690820delTA	ENST00000371953.3	+	4	1583_1584	c.226_227delTA	c.(226-228)tatfs	p.Y76fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	76	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.Y76fs*1(12)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y76del(2)|p.Y27fs*1(2)|p.H75_T78del(1)|p.F56fs*2(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)		TGAAAGACATTATGACACCGCC	0.302		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"""		72	Whole gene deletion(37)|Deletion - Frameshift(26)|Unknown(6)|Deletion - In frame(3)	p.0?(37)|p.Y76fs*1(24)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.Y76del(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.H75_T78del(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.H75N(1)|p.F56fs*2(1)	central_nervous_system(21)|prostate(17)|endometrium(7)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|stomach(1)|soft_tissue(1)|urinary_tract(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.(226-228)tatfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	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.chr10:89690819_89690820delTA	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.226_227delTA	10.37:g.89690819_89690820delTA	ENSP00000361021:p.Tyr76fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y76fs	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)	3	1258_1259	+		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)	76			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.226_227delTA	CCDS31238.1																																																																																				0.302	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
HSPA12A	259217	broad.mit.edu	37	10	118439024	118439024	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:118439024G>A	ENST00000369209.3	-	10	1380	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	426						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCTTTTCCGCAAGGCGTGC	0.572																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1276-1278)Cgg>Tgg		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							100.0	103.0	102.0					10																	118439024		2045	4179	6224	SO:0001583	missense	259217						ATP binding	g.chr10:118439024G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1276C>T	10.37:g.118439024G>A	ENSP00000358211:p.Arg426Trp					HSPA12A_uc001lcu.3_Missense_Mutation_p.R343W	p.R426W	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1381	-			426						Missense_Mutation	SNP	ENST00000369209.3	37	c.1276C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255853	0.59321	.	.	ENSG00000165868	ENST00000369209	T	0.50277	0.75	5.95	0.716	0.18191	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.70595	2.14	0.58432	D	0.999992	D	0.89917	1.0	D	0.76575	0.988	T	0.70029	-0.4984	10	0.87932	D	0	.	16.2739	0.82634	0.0:0.0:0.6176:0.3823	.	426	O43301	HS12A_HUMAN	W	426	ENSP00000358211:R426W	ENSP00000358211:R426W	R	-	1	2	HSPA12A	118429014	1.000000	0.71417	0.987000	0.45799	0.668000	0.39293	1.284000	0.33249	-0.110000	0.12022	-0.262000	0.10625	CGG		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
JAKMIP3	282973	broad.mit.edu	37	10	133949482	133949482	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:133949482delA	ENST00000298622.4	+	5	1156	c.1018delA	c.(1018-1020)aaafs	p.K340fs		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	340						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTGCTGGATAAAAACAAGCG	0.443																																						uc001lkx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1018-1020)aaafs		Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.							55.0	63.0	60.0					10																	133949482		1928	4123	6051	SO:0001589	frameshift_variant	282973							g.chr10:133949482delA	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1018delA	10.37:g.133949482delA	ENSP00000298622:p.Lys340fs						p.K340fs	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	1018	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Del	DEL	ENST00000298622.4	37	c.1018delA	CCDS44494.1																																																																																				0.443	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
KCNQ1	3784	broad.mit.edu	37	11	2466624	2466624	+	Missense_Mutation	SNP	C	C	T	rs370435862		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:2466624C>T	ENST00000155840.5	+	1	404	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	99				TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGCCGCCCGGTGTTGGCG	0.706																																						uc001lwn.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(295-297)cCg>cTg		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	Bepridil(DB01244)|Indapamide(DB00808)						14.0	15.0	15.0					11																	2466624		2171	4250	6421	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2466624C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.296C>T	11.37:g.2466624C>T	ENSP00000155840:p.Pro99Leu					KCNQ1_uc009ydo.1_Missense_Mutation_p.P99L	p.P99L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	0	404	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	99	TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781).				O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.296C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317203	0.81469	.	.	ENSG00000053918	ENST00000496887;ENST00000155840	D;D	0.99843	-7.11;-5.67	3.04	3.04	0.35103	.	0.000000	0.64402	D	0.000003	D	0.99036	0.9670	L	0.60455	1.87	0.80722	D	1	P	0.38335	0.627	B	0.32022	0.139	D	0.99889	1.1130	10	0.72032	D	0.01	-32.0746	11.6866	0.51490	0.0:1.0:0.0:0.0	.	99	P51787	KCNQ1_HUMAN	L	12;99	ENSP00000434560:P12L;ENSP00000155840:P99L	ENSP00000155840:P99L	P	+	2	0	KCNQ1	2423200	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	3.357000	0.52277	1.699000	0.51192	0.462000	0.41574	CCG		0.706	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	
OR5M8	219484	broad.mit.edu	37	11	56258561	56258561	+	Missense_Mutation	SNP	A	A	G	rs546898264	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:56258561A>G	ENST00000327216.2	-	1	310	c.286T>C	c.(286-288)Tgt>Cgt	p.C96R		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCACAAGACAGGCAGGATAG	0.473													A|||	3	0.000599042	0.0	0.0	5008	,	,		22492	0.002		0.0	False		,,,				2504	0.001					uc001nix.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(286-288)Tgt>Cgt		Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.							109.0	97.0	101.0					11																	56258561		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258561A>G	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.286T>C	11.37:g.56258561A>G	ENSP00000323354:p.Cys96Arg					OR8U8_uc001nit.2_Intron	p.C96R	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			0	286	-	Esophageal squamous(21;0.00352)		96					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.286T>C	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	8.952	0.968534	0.18659	.	.	ENSG00000181371	ENST00000327216	T	0.16897	2.31	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000903	T	0.34745	0.0908	H	0.95745	3.715	0.80722	D	1	B	0.26775	0.159	B	0.30105	0.111	T	0.44772	-0.9306	10	0.87932	D	0	-12.9725	11.6945	0.51536	1.0:0.0:0.0:0.0	.	96	Q8NGP6	OR5M8_HUMAN	R	96	ENSP00000323354:C96R	ENSP00000323354:C96R	C	-	1	0	OR5M8	56015137	1.000000	0.71417	0.098000	0.21074	0.039000	0.13416	7.346000	0.79347	1.693000	0.51124	0.440000	0.28878	TGT		0.473	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
VWF	7450	broad.mit.edu	37	12	6122757	6122757	+	Missense_Mutation	SNP	C	C	T	rs545304154		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:6122757C>T	ENST00000261405.5	-	32	5764	c.5510G>A	c.(5509-5511)cGg>cAg	p.R1837Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1837	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCCAAGATCCGTAGCTGGGC	0.532																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5509-5511)cGg>cAg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						96.0	88.0	91.0					12																	6122757		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6122757C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5510G>A	12.37:g.6122757C>T	ENSP00000261405:p.Arg1837Gln					VWF_uc010set.1_Intron	p.R1837Q	NM_000552	NP_000543	P04275	VWF_HUMAN			31	5760	-			1837			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5510G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960595	0.53400	.	.	ENSG00000110799	ENST00000261405	D	0.84223	-1.82	5.21	4.32	0.51571	von Willebrand factor, type A (3);	0.282507	0.25414	N	0.030856	T	0.79137	0.4395	L	0.53561	1.675	0.80722	D	1	P	0.46142	0.873	B	0.37508	0.252	T	0.78516	-0.2174	10	0.54805	T	0.06	.	8.9836	0.35980	0.0:0.8304:0.0:0.1695	.	1837	P04275	VWF_HUMAN	Q	1837	ENSP00000261405:R1837Q	ENSP00000261405:R1837Q	R	-	2	0	VWF	5993018	0.035000	0.19736	0.739000	0.30968	0.042000	0.13812	0.771000	0.26633	1.196000	0.43129	0.650000	0.86243	CGG		0.532	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
TAS2R13	50838	broad.mit.edu	37	12	11061487	11061487	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:11061487G>A	ENST00000390677.2	-	1	674	c.411C>T	c.(409-411)acC>acT	p.T137T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	137					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T137T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353																																						uc001qzg.1																			1	Substitution - coding silent(1)	p.T137T(2)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(409-411)acC>acT		Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.							66.0	69.0	68.0					12																	11061487		2203	4300	6503	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061487G>A	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.411C>T	12.37:g.11061487G>A						PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	p.T137T	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN			0	675	-			137					Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.411C>T	CCDS8635.1																																																																																				0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1		
TRPV4	59341	broad.mit.edu	37	12	110236432	110236432	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:110236432G>A	ENST00000418703.2	-	5	1233	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	TRPV4_ENST00000392719.2_Missense_Mutation_p.T333M|TRPV4_ENST00000536838.1_Missense_Mutation_p.T346M|TRPV4_ENST00000346520.2_Missense_Mutation_p.T380M|TRPV4_ENST00000541794.1_Missense_Mutation_p.T333M|TRPV4_ENST00000544971.1_Missense_Mutation_p.T333M|TRPV4_ENST00000261740.2_Missense_Mutation_p.T380M|TRPV4_ENST00000537083.1_Missense_Mutation_p.T380M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	380					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATCTTGCCCGTCTTGGCAGC	0.612																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1138-1140)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							63.0	56.0	58.0					12																	110236432		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236432G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1139C>T	12.37:g.110236432G>A	ENSP00000406191:p.Thr380Met					TRPV4_uc001tpg.2_Missense_Mutation_p.T346M|TRPV4_uc021rdp.1_Missense_Mutation_p.T380M|TRPV4_uc001tph.2_Missense_Mutation_p.T333M|TRPV4_uc001tpi.2_Missense_Mutation_p.T333M|TRPV4_uc001tpk.2_Missense_Mutation_p.T380M	p.T380M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			4	1234	-			380					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1139C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552178	0.27739	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.9	4.01	0.46588	Ankyrin repeat-containing domain (3);	0.213658	0.42821	N	0.000658	T	0.33962	0.0881	N	0.17594	0.5	0.19300	N	0.999971	B;D;P;B;P	0.56035	0.29;0.974;0.495;0.358;0.514	B;B;B;B;B	0.36378	0.02;0.223;0.079;0.101;0.069	T	0.18587	-1.0332	10	0.40728	T	0.16	-21.8359	9.2952	0.37811	0.1642:0.0:0.8358:0.0	.	380;380;333;333;346	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	380;380;333;380;333;380;333;346	ENSP00000406191:T380M;ENSP00000261740:T380M;ENSP00000376480:T333M;ENSP00000319003:T380M;ENSP00000443611:T333M;ENSP00000442738:T380M;ENSP00000442167:T333M;ENSP00000444336:T346M	ENSP00000261740:T380M	T	-	2	0	TRPV4	108720815	0.989000	0.36119	0.992000	0.48379	0.856000	0.48823	2.295000	0.43576	1.211000	0.43351	-0.126000	0.14955	ACG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
HPD	3242	broad.mit.edu	37	12	122292681	122292681	+	Silent	SNP	G	G	A	rs61742674	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:122292681G>A	ENST00000289004.4	-	7	377	c.342C>T	c.(340-342)ggC>ggT	p.G114G	HPD_ENST00000543163.1_Silent_p.G75G|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	114					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGATTTTGGCGCCCCGTTCCC	0.597													G|||	12	0.00239617	0.0091	0.0	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.0					uc001ubj.3																			0		p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(340-342)ggC>ggT		Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	Nitisinone(DB00348)	G	,	50,4356	50.9+/-86.3	0,50,2153	146.0	125.0	132.0		225,342	-5.8	0.9	12	dbSNP_129	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPD	NM_001171993.1,NM_002150.2	,	0,50,6453	AA,AG,GG		0.0,1.1348,0.3844	,	75/355,114/394	122292681	50,12956	2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292681G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.342C>T	12.37:g.122292681G>A						HPD_uc001ubk.3_Silent_p.G75G	p.G114G	NM_002150	NP_001165464	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	382	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		114					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.342C>T	CCDS9224.1																																																																																				0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	
COL4A1	1282	broad.mit.edu	37	13	110895031	110895031	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr13:110895031C>T	ENST00000375820.4	-	2	256	c.135G>A	c.(133-135)aaG>aaA	p.K45K	COL4A1_ENST00000543140.1_Silent_p.K45K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	45					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGTCCCTTCACTCCAT	0.408																																						uc001vqw.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(133-135)aaG>aaA		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							276.0	281.0	279.0					13																	110895031		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110895031C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.135G>A	13.37:g.110895031C>T							p.K45K	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		1	257	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	45					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.135G>A	CCDS9511.1																																																																																				0.408	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
KCNH5	27133	broad.mit.edu	37	14	63316465	63316465	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr14:63316465A>T	ENST00000322893.7	-	8	1743	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.L434Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.L492Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	492					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATAGAGTTTTAGGAAGTCCCG	0.393																																						uc001xfx.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1474-1476)cTa>cAa		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							170.0	150.0	157.0					14																	63316465		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63316465A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1475T>A	14.37:g.63316465A>T	ENSP00000321427:p.Leu492Gln					KCNH5_uc001xfy.3_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	p.L492Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1526	-			492					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1475T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272639	0.80580	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.97089	-4.24;-4.24;-4.24	5.21	5.21	0.72293	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.97579	0.9207	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.973;0.973;0.999	P;P;D	0.67900	0.894;0.894;0.954	D	0.98393	1.0564	10	0.87932	D	0	.	14.5507	0.68065	1.0:0.0:0.0:0.0	.	434;492;492	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	Q	492;492;434	ENSP00000321427:L492Q;ENSP00000395439:L492Q;ENSP00000378419:L434Q	ENSP00000321427:L492Q	L	-	2	0	KCNH5	62386218	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.283000	0.95860	2.075000	0.62263	0.528000	0.53228	CTA		0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
IGF1R	3480	broad.mit.edu	37	15	99250943	99250943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr15:99250943G>T	ENST00000268035.6	+	2	858	c.247G>T	c.(247-249)Gag>Tag	p.E83*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.E83*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	83					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGTCATTACCGAGTACTTGCT	0.597																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(247-249)Gag>Tag		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						110.0	78.0	89.0					15																	99250943		2197	4297	6494	SO:0001587	stop_gained	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250943G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.247G>T	15.37:g.99250943G>T	ENSP00000268035:p.Glu83*					IGF1R_uc010urq.2_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.3_Nonsense_Mutation_p.E83*	p.E83*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		1	297	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		83					B1B5Y2|Q14CV2|Q9UCC0	Nonsense_Mutation	SNP	ENST00000268035.6	37	c.247G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	45	11.513897	0.99570	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.36	5.36	0.76844	.	0.104008	0.39407	N	0.001374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000268035:E83X	E	+	1	0	IGF1R	97068466	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.667000	0.98616	2.659000	0.90383	0.563000	0.77884	GAG		0.597	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
WDR90	197335	broad.mit.edu	37	16	701986	701986	+	Missense_Mutation	SNP	G	G	A	rs201213089		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:701986G>A	ENST00000293879.4	+	9	1000	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	WDR90_ENST00000549091.1_Missense_Mutation_p.V334M|AL022341.3_ENST00000455294.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	334										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGCACCCACGTGTTGACTCA	0.687																																						uc002cii.1																			0		p.H333N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1000-1002)Gtg>Atg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.		G	MET/VAL	4,4046		0,4,2021	10.0	13.0	12.0		1000	-1.1	0.0	16		12	0,8320		0,0,4160	no	missense	WDR90	NM_145294.4	21	0,4,6181	AA,AG,GG		0.0,0.0988,0.0323	probably-damaging	334/1749	701986	4,12366	2025	4160	6185	SO:0001583	missense	197335							g.chr16:701986G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1000G>A	16.37:g.701986G>A	ENSP00000293879:p.Val334Met					WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_Non-coding_Transcript	p.V334M	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			8	1054	+		Hepatocellular(780;0.0218)	334					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1000G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806026	0.50421	9.88E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.31769	1.51;1.48	4.46	-1.12	0.09808	.	0.221807	0.27284	U	0.020072	T	0.46678	0.1405	M	0.79475	2.455	0.09310	N	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.65874	0.939;0.613;0.916	T	0.35201	-0.9798	10	0.52906	T	0.07	.	7.763	0.28963	0.4797:0.0:0.5203:0.0	.	334;335;334	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	334	ENSP00000448122:V334M;ENSP00000293879:V334M	ENSP00000293879:V334M	V	+	1	0	WDR90	641987	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.275000	0.08525	-0.395000	0.07715	0.561000	0.74099	GTG		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
RHBDL1	9028	broad.mit.edu	37	16	727080	727080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:727080G>A	ENST00000219551.2	+	3	758	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RHBDL1_ENST00000352681.3_Missense_Mutation_p.R179H|LA16c-313D11.9_ENST00000571933.1_RNA|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	244					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CACCGTGCCCGCGCCTGGCGC	0.617																																						uc002cis.1																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(730-732)cGc>cAc		Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.							52.0	61.0	58.0					16																	727080		2199	4298	6497	SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:727080G>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.731G>A	16.37:g.727080G>A	ENSP00000219551:p.Arg244His					RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	p.R244H	NM_003961	NP_003952	O75783	RHBL1_HUMAN			2	758	+		Hepatocellular(780;0.0218)	244					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	c.731G>A	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497047	0.26861	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.11495	2.77;2.77	4.52	3.56	0.40772	Peptidase S54, rhomboid domain (1);	0.081019	0.49916	D	0.000123	T	0.11239	0.0274	N	0.10782	0.045	0.42186	D	0.991702	D;D;D	0.62365	0.991;0.991;0.98	P;P;B	0.55260	0.772;0.772;0.372	T	0.14504	-1.0470	10	0.87932	D	0	-15.7369	11.2008	0.48741	0.0911:0.0:0.9089:0.0	.	179;244;179	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	H	179;179;244	ENSP00000344206:R179H;ENSP00000219551:R244H	ENSP00000219551:R244H	R	+	2	0	RHBDL1	667081	1.000000	0.71417	0.139000	0.22197	0.027000	0.11550	4.917000	0.63369	0.900000	0.36469	-0.259000	0.10710	CGC		0.617	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961	
SLC12A4	6560	broad.mit.edu	37	16	67984224	67984224	+	Missense_Mutation	SNP	G	G	A	rs200235448		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:67984224G>A	ENST00000316341.3	-	12	1767	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	SLC12A4_ENST00000422611.2_Missense_Mutation_p.R545W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R543W|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R543W|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R512W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R495W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R537W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	543					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCTCACCCGGAGGAAGGGG	0.642																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1633-1635)Cgg>Tgg		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						75.0	67.0	69.0					16																	67984224		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984224G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1627C>T	16.37:g.67984224G>A	ENSP00000318557:p.Arg543Trp					SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc002euz.2_Missense_Mutation_p.R543W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	p.R545W	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	10	1673	-		Ovarian(137;0.192)	543					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1633C>T	CCDS10855.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.43	2.829841	0.50845	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14	5.11	4.14	0.48551	Amino acid permease domain (1);	0.046320	0.85682	D	0.000000	D	0.97161	0.9072	M	0.79926	2.475	0.58432	D	0.999995	B;B;B;B;B;B	0.25743	0.052;0.101;0.027;0.133;0.083;0.101	B;B;B;B;B;B	0.21151	0.033;0.022;0.019;0.031;0.031;0.022	D	0.95105	0.8233	10	0.62326	D	0.03	.	4.9497	0.14008	0.1155:0.0:0.4964:0.3881	.	545;543;512;537;543;543	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	545;512;537;543;543	ENSP00000395983:R545W;ENSP00000438334:R512W;ENSP00000445962:R537W;ENSP00000343374:R543W;ENSP00000318557:R543W	ENSP00000318557:R543W	R	-	1	2	SLC12A4	66541725	0.933000	0.31639	1.000000	0.80357	0.995000	0.86356	1.112000	0.31172	1.115000	0.41800	0.655000	0.94253	CGG		0.642	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
CDH15	1013	broad.mit.edu	37	16	89261311	89261311	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:89261311C>T	ENST00000289746.2	+	14	2258	c.2193C>T	c.(2191-2193)taC>taT	p.Y731Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	731					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCGCCTTACGACACAGCCC	0.637																																						uc002fmt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2191-2193)taC>taT		Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.							35.0	31.0	32.0					16																	89261311		2182	4292	6474	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261311C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2193C>T	16.37:g.89261311C>T							p.Y731Y	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	13	2270	+			731						Silent	SNP	ENST00000289746.2	37	c.2193C>T	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
DNAH9	1770	broad.mit.edu	37	17	11648135	11648135	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:11648135C>T	ENST00000262442.4	+	31	6201	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2045W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2045	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGGCCTACGGGCCATCAA	0.557																																						uc002gne.3																			0		p.R2045R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6133-6135)Cgg>Tgg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							59.0	54.0	56.0					17																	11648135		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648135C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6133C>T	17.37:g.11648135C>T	ENSP00000262442:p.Arg2045Trp					DNAH9_uc010coo.3_Missense_Mutation_p.R1339W	p.R2045W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	30	6201	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2045			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6133C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856571	0.71834	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.68025	-0.3;-0.3	5.46	-0.559	0.11792	.	0.000000	0.64402	D	0.000002	D	0.87533	0.6201	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90991	0.4835	10	0.87932	D	0	.	16.8946	0.86097	0.707:0.293:0.0:0.0	.	2045	Q9NYC9	DYH9_HUMAN	W	2045;2045;627	ENSP00000262442:R2045W;ENSP00000414874:R2045W	ENSP00000262442:R2045W	R	+	1	2	DNAH9	11588860	1.000000	0.71417	0.827000	0.32855	0.950000	0.60333	1.163000	0.31798	-0.299000	0.08909	-0.175000	0.13238	CGG		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
SNX11	29916	broad.mit.edu	37	17	46198838	46198838	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:46198838C>A	ENST00000393405.2	+	8	1135	c.781C>A	c.(781-783)Cct>Act	p.P261T	SNX11_ENST00000452859.2_Missense_Mutation_p.P117T|SNX11_ENST00000359238.2_Missense_Mutation_p.P261T|SNX11_ENST00000582104.1_Missense_Mutation_p.P253T|SNX11_ENST00000439357.2_Missense_Mutation_p.P200T|SNX11_ENST00000580219.1_Missense_Mutation_p.P253T	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	261					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCTTTGGACCCTGGTCAGTT	0.522																																						uc002inf.1																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(781-783)Cct>Act		Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.							134.0	125.0	128.0					17																	46198838		2203	4300	6503	SO:0001583	missense	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198838C>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.781C>A	17.37:g.46198838C>A	ENSP00000377059:p.Pro261Thr					SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	p.P261T	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN			7	1135	+			261					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	c.781C>A	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691129	0.48097	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.65732	-0.17;-0.17	6.16	3.82	0.43975	.	0.491195	0.21064	N	0.080778	T	0.51669	0.1688	L	0.44542	1.39	0.24564	N	0.993951	B;B;B	0.27823	0.19;0.099;0.099	B;B;B	0.27608	0.081;0.037;0.06	T	0.52275	-0.8597	10	0.72032	D	0.01	-6.7131	8.4828	0.33054	0.0:0.7494:0.1601:0.0905	.	200;253;261	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	T	117;261;200;261	ENSP00000377059:P261T;ENSP00000352175:P261T	ENSP00000352175:P261T	P	+	1	0	SNX11	43553837	0.652000	0.27349	0.546000	0.28166	0.930000	0.56654	0.190000	0.17057	1.583000	0.49898	0.650000	0.86243	CCT		0.522	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1		
TNRC6C	57690	broad.mit.edu	37	17	76089149	76089149	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:76089149G>A	ENST00000588061.1	+	17	4833	c.4106G>A	c.(4105-4107)cGt>cAt	p.R1369H	TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1366H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1369H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1366H|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1366H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1369H			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1369	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGGTCACGTGCCAAATCT	0.502																																						uc002jud.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4105-4107)cGt>cAt		Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.							67.0	65.0	66.0					17																	76089149		2010	4190	6200	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089149G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4106G>A	17.37:g.76089149G>A	ENSP00000468647:p.Arg1369His					TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	p.R1369H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4706	+			1369					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4106G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214265	0.95104	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.97	5.97	0.96955	.	0.053825	0.85682	D	0.000000	T	0.35038	0.0918	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	P;P	0.59288	0.855;0.66	T	0.00245	-1.1882	10	0.42905	T	0.14	-9.4663	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1366;1369	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	H	1369;1366;1366;1369;1369;1366	ENSP00000336783:R1366H;ENSP00000301624:R1369H;ENSP00000440310:R1369H;ENSP00000442421:R1366H	ENSP00000301624:R1369H	R	+	2	0	TNRC6C	73600744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.831000	0.97527	0.655000	0.94253	CGT		0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
UTS2R	2837	broad.mit.edu	37	17	80332216	80332216	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:80332216G>A	ENST00000313135.2	+	1	64	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	6					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCTGACCCCCGAGTCCCCGAG	0.721																																						uc010wvl.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(16-18)Gag>Aag		Homo sapiens urotensin 2 receptor (UTS2R), mRNA.							5.0	7.0	6.0					17																	80332216		2033	4088	6121	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332216G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.16G>A	17.37:g.80332216G>A	ENSP00000323516:p.Glu6Lys						p.E6K	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		0	16	+	Breast(20;0.00106)|all_neural(118;0.0804)		6					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.16G>A	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524689	0.44969	.	.	ENSG00000181408	ENST00000313135	T	0.68181	-0.31	4.82	2.79	0.32731	.	0.349089	0.22457	N	0.059818	T	0.46946	0.1419	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.12837	0.008	T	0.20075	-1.0286	10	0.10902	T	0.67	.	8.0713	0.30691	0.0827:0.3063:0.611:0.0	.	6	Q9UKP6	UR2R_HUMAN	K	6	ENSP00000323516:E6K	ENSP00000323516:E6K	E	+	1	0	UTS2R	77925505	0.529000	0.26322	0.005000	0.12908	0.031000	0.12232	3.767000	0.55288	1.148000	0.42385	-0.150000	0.13652	GAG		0.721	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949	
LAMA1	284217	broad.mit.edu	37	18	7023335	7023335	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr18:7023335G>A	ENST00000389658.3	-	19	2622	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	843	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAAGATTCGCCAGGCACTG	0.527																																						uc002knm.3																			0		p.G843V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2527-2529)ggC>ggT		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	94.0	96.0					18																	7023335		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023335G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2529C>T	18.37:g.7023335G>A						LAMA1_uc010wzj.2_Silent_p.G319G	p.G843G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			18	2623	-		Colorectal(10;0.172)	843			Laminin EGF-like 7.			Silent	SNP	ENST00000389658.3	37	c.2529C>T	CCDS32787.1																																																																																				0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MUC16	94025	broad.mit.edu	37	19	9063659	9063659	+	Silent	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:9063659A>T	ENST00000397910.4	-	3	23990	c.23787T>A	c.(23785-23787)tcT>tcA	p.S7929S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7931	Ser-rich.|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)				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						TCATTGTCAAAGAGGTTGTGC	0.458																																						uc002mkp.3																			0				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.(23785-23787)tcT>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							233.0	216.0	222.0					19																	9063659		2037	4196	6233	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063659A>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.23787T>A	19.37:g.9063659A>T							p.S7929S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	23991	-			7931			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23787T>A	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FFAR1	2864	broad.mit.edu	37	19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T	rs199506594		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:35842837C>T	ENST00000246553.2	+	1	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	128					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667																																						uc002nzc.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(382-384)gCg>gTg		Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	Icosapent(DB00159)						72.0	72.0	72.0					19																	35842837		2203	4300	6503	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842837C>T	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.383C>T	19.37:g.35842837C>T	ENSP00000246553:p.Ala128Val						p.A128V	NM_005303	NP_005294	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		0	393	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		128					Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.383C>T	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976058	0.00452	.	.	ENSG00000126266	ENST00000246553	T	0.38077	1.16	4.23	-2.02	0.07388	GPCR, rhodopsin-like superfamily (1);	0.778565	0.10642	N	0.650883	T	0.11196	0.0273	N	0.01874	-0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.33979	-0.9847	10	0.02654	T	1	-1.8853	9.9347	0.41543	0.0:0.5236:0.0:0.4764	.	128	O14842	FFAR1_HUMAN	V	128	ENSP00000246553:A128V	ENSP00000246553:A128V	A	+	2	0	FFAR1	40534677	0.046000	0.20272	0.801000	0.32222	0.048000	0.14542	0.034000	0.13776	-0.829000	0.04268	-0.367000	0.07326	GCG		0.667	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303	
ZFP82	284406	broad.mit.edu	37	19	36884449	36884449	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:36884449C>T	ENST00000392161.3	-	5	1035	c.793G>A	c.(793-795)Gta>Ata	p.V265I	ZFP82_ENST00000392171.1_Missense_Mutation_p.V265I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V265L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTCGTACCCTAAAAGCC	0.433																																						uc002ody.1																			1	Substitution - Missense(1)	p.V265L(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(793-795)Gta>Ata		Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.							154.0	154.0	154.0					19																	36884449		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884449C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.793G>A	19.37:g.36884449C>T	ENSP00000431265:p.Val265Ile						p.V265I	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			4	1028	-			265					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.793G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910211	0.33721	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07444	3.19;3.19	4.47	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001955	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.52031	0.688	T	0.40156	-0.9578	10	0.24483	T	0.36	.	4.4827	0.11774	0.156:0.5997:0.1522:0.0921	.	265	Q8N141	ZFP82_HUMAN	I	265	ENSP00000431265:V265I;ENSP00000446080:V265I	ENSP00000431265:V265I	V	-	1	0	ZFP82	41576289	0.000000	0.05858	0.997000	0.53966	0.973000	0.67179	-2.014000	0.01449	2.319000	0.78375	0.655000	0.94253	GTA		0.433	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
MEIS3	56917	broad.mit.edu	37	19	47910342	47910342	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:47910342G>A	ENST00000558555.1	-	10	1175	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	MEIS3_ENST00000331559.5_Missense_Mutation_p.R359C|MEIS3_ENST00000441740.2_Missense_Mutation_p.R313C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.R376C|MEIS3_ENST00000561096.1_Missense_Mutation_p.R418C|MEIS3_ENST00000559524.1_Missense_Mutation_p.R376C			Q99687	MEIS3_HUMAN	Meis homeobox 3	330					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTACCTGTGCGGTTGGATTGA	0.612																																						uc002pgq.3																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(1231-1233)Cgc>Tgc		Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.							80.0	44.0	56.0					19																	47910342		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47910342G>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.988C>T	19.37:g.47910342G>A	ENSP00000454073:p.Arg330Cys					MEIS3_uc002pgo.3_Missense_Mutation_p.R129C|MEIS3_uc002pgp.3_Missense_Mutation_p.R162C|MEIS3_uc002pgr.3_Missense_Mutation_p.R198C|MEIS3_uc002pgs.3_Missense_Mutation_p.R376C|MEIS3_uc002pgt.3_Missense_Mutation_p.R313C|MEIS3_uc010eld.3_Missense_Mutation_p.R376C	p.R411C	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	9	1297	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	330					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.507250	0.85282	.	.	ENSG00000105419	ENST00000331559;ENST00000441740;ENST00000437609	D	0.83992	-1.79	4.24	3.11	0.35812	.	0.139230	0.46145	D	0.000315	D	0.88407	0.6428	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.80764	0.994;0.899;0.911;0.96;0.994	D	0.88845	0.3315	10	0.87932	D	0	-19.1425	11.2505	0.49024	0.0:0.0:0.8169:0.1831	.	222;330;313;376;205	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	C	376;313;7	ENSP00000388667:R313C	ENSP00000333552:R376C	R	-	1	0	MEIS3	52602154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.986000	0.49370	2.365000	0.80145	0.436000	0.28706	CGC		0.612	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929	
SIGLEC5	8778	broad.mit.edu	37	19	52129355	52129355	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:52129355C>T	ENST00000534261.2	-	9	1793	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R465H|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R465H|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R465H|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R465H			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	465					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTGCTTCCTGCGGGCTTTCAC	0.527																																						uc002pxe.3																			0		p.A464A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1393-1395)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.							112.0	103.0	106.0					19																	52129355		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129355C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1394G>A	19.37:g.52129355C>T	ENSP00000473238:p.Arg465His						p.R465H	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	7	1533	-		all_neural(266;0.0726)	465						Missense_Mutation	SNP	ENST00000534261.2	37	c.1394G>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277019	0.23307	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.61742	0.08;0.08	3.12	-2.69	0.06022	.	3.368560	0.01528	N	0.018668	T	0.59018	0.2163	L	0.33485	1.01	0.09310	N	1	D	0.89917	1.0	P	0.57324	0.818	T	0.53365	-0.8449	10	0.42905	T	0.14	.	7.3793	0.26845	0.0:0.3901:0.0:0.6099	.	465	O15389	SIGL5_HUMAN	H	465	ENSP00000222107:R465H;ENSP00000415200:R465H	ENSP00000222107:R465H	R	-	2	0	SIGLEC5	56821167	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.067000	0.14510	-0.498000	0.06632	-0.145000	0.13849	CGC		0.527	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					uc010ydv.1																			3	Substitution - coding silent(3)	p.K934K(6)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_uc010ydw.1_Silent_p.K934K	p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZNF419	79744	broad.mit.edu	37	19	58004984	58004984	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58004984C>T	ENST00000221735.7	+	5	1245	c.1059C>T	c.(1057-1059)agC>agT	p.S353S	ZNF419_ENST00000415379.2_Silent_p.S307S|ZNF419_ENST00000424930.2_Silent_p.S354S|ZNF419_ENST00000442920.2_Silent_p.S340S|ZNF419_ENST00000426954.2_Silent_p.S341S|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Silent_p.S341S|ZNF419_ENST00000347466.6_Silent_p.S321S			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AATTCTATAGCCACAAGTCCA	0.413																																						uc010ety.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1060-1062)agC>agT		Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.							79.0	83.0	82.0					19																	58004984		2202	4300	6502	SO:0001819	synonymous_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004984C>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1059C>T	19.37:g.58004984C>T						ZNF419_uc002qov.2_Silent_p.S353S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	p.S354S	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	4	1302	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	353					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	ENST00000221735.7	37	c.1062C>T	CCDS54326.1																																																																																				0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF773	374928	broad.mit.edu	37	19	58018486	58018486	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58018486C>T	ENST00000282292.4	+	4	1163	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.S340S	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	341					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(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AATTCTATAGCCACAAGTCCA	0.418																																						uc002qox.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1021-1023)agC>agT		Homo sapiens zinc finger protein 773 (ZNF773), mRNA.							101.0	106.0	104.0					19																	58018486		2203	4300	6503	SO:0001819	synonymous_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018486C>T	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1023C>T	19.37:g.58018486C>T						ZNF773_uc002qoy.3_Silent_p.S340S|ZNF773_uc021vcl.1_Intron	p.S341S	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	3	1163	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	341					Q96DL8	Silent	SNP	ENST00000282292.4	37	c.1023C>T	CCDS33134.1																																																																																				0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
C2orf16	84226	broad.mit.edu	37	2	27803330	27803330	+	Silent	SNP	T	T	C	rs535533658		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:27803330T>C	ENST00000408964.2	+	1	3942	c.3891T>C	c.(3889-3891)ctT>ctC	p.L1297L	ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1297						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAAGCGACTTAGAAAACACA	0.403																																						uc002rkz.4																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3889-3891)ctT>ctC		Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.							82.0	78.0	79.0					2																	27803330		1831	4092	5923	SO:0001819	synonymous_variant	84226							g.chr2:27803330T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3891T>C	2.37:g.27803330T>C						ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	p.L1297L	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			0	3942	+	Acute lymphoblastic leukemia(172;0.155)		1297					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.3891T>C	CCDS42666.1																																																																																				0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
SNRNP200	23020	broad.mit.edu	37	2	96964138	96964138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:96964138C>T	ENST00000323853.5	-	9	1080	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	SNRNP200_ENST00000349783.5_Missense_Mutation_p.A335T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	335					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTGCACTGGCCAGCAAGGTA	0.433																																						uc002svu.3																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1003-1005)Gcc>Acc		Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.							101.0	104.0	103.0					2																	96964138		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96964138C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1003G>A	2.37:g.96964138C>T	ENSP00000317123:p.Ala335Thr						p.A335T	NM_014014	NP_054733	O75643	U520_HUMAN			8	1135	-			335					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1003G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115572	0.56505	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.69306	-0.39;1.37	5.77	4.9	0.64082	.	0.162491	0.53938	N	0.000053	T	0.65069	0.2656	M	0.67569	2.06	0.58432	D	0.999997	B	0.23490	0.086	B	0.24269	0.052	T	0.62661	-0.6807	10	0.38643	T	0.18	-11.8148	13.8453	0.63463	0.0:0.9253:0.0:0.0747	.	335	O75643	U520_HUMAN	T	335;335;10	ENSP00000317123:A335T;ENSP00000326937:A335T	ENSP00000317123:A335T	A	-	1	0	SNRNP200	96327865	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.411000	0.80078	1.457000	0.47850	-0.266000	0.10368	GCC		0.433	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
TBR1	10716	broad.mit.edu	37	2	162280004	162280004	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:162280004A>G	ENST00000389554.3	+	6	1632	c.1315A>G	c.(1315-1317)Aac>Gac	p.N439D	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.N152D|AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	439					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTTCGTGAGCAACTACGCCAA	0.746																																						uc002ubw.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1315-1317)Aac>Gac		Homo sapiens T-box, brain, 1 (TBR1), mRNA.							8.0	10.0	9.0					2																	162280004		1980	4068	6048	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162280004A>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1315A>G	2.37:g.162280004A>G	ENSP00000374205:p.Asn439Asp					TBR1_uc010foy.2_Missense_Mutation_p.N152D	p.N439D	NM_006593	NP_006584	Q16650	TBR1_HUMAN			5	1617	+			439					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1315A>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.213561	0.58452	.	.	ENSG00000136535	ENST00000389554;ENST00000410035	D;D	0.87103	-2.21;-1.57	3.67	3.67	0.42095	.	0.000000	0.46758	U	0.000277	T	0.81631	0.4863	L	0.47190	1.495	0.39395	D	0.966493	B	0.33103	0.397	B	0.35039	0.194	T	0.77547	-0.2547	10	0.14656	T	0.56	.	12.5317	0.56120	1.0:0.0:0.0:0.0	.	439	Q16650	TBR1_HUMAN	D	439;152	ENSP00000374205:N439D;ENSP00000387023:N152D	ENSP00000374205:N439D	N	+	1	0	TBR1	161988250	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.309000	0.59135	1.558000	0.49541	0.254000	0.18369	AAC		0.746	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
TTN	7273	broad.mit.edu	37	2	179542633	179542633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:179542633G>A	ENST00000591111.1	-	144	33279	c.33055C>T	c.(33055-33057)Cgt>Tgt	p.R11019C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11336C|TTN_ENST00000342992.6_Missense_Mutation_p.R10092C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10166	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCACGTTTCTTTGGC	0.363																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30274-30276)Cgt>Tgt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							59.0	58.0	58.0					2																	179542633		1830	4074	5904	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542633G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33055C>T	2.37:g.179542633G>A	ENSP00000465570:p.Arg11019Cys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.R10092C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30499	-			11019			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30274C>T		.	.	.	.	.	.	.	.	.	.	G	11.36	1.614574	0.28712	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	6.07	5.18	0.71444	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46814	0.1412	N	0.14661	0.345	0.27945	N	0.937388	P	0.39116	0.66	B	0.27796	0.083	T	0.48222	-0.9054	9	0.87932	D	0	.	5.7122	0.17941	0.0664:0.1231:0.5558:0.2547	.	11019	Q8WZ42	TITIN_HUMAN	C	10092	ENSP00000343764:R10092C	ENSP00000343764:R10092C	R	-	1	0	TTN	179250878	0.901000	0.30685	0.941000	0.38009	0.921000	0.55340	1.244000	0.32778	1.558000	0.49541	0.650000	0.86243	CGT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PDE1A	5136	broad.mit.edu	37	2	183053766	183053766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:183053766C>T	ENST00000410103.1	-	12	1278	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	PDE1A_ENST00000536095.1_Missense_Mutation_p.G295R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G399R|PDE1A_ENST00000435564.1_Missense_Mutation_p.G399R|PDE1A_ENST00000351439.5_Missense_Mutation_p.G383R|PDE1A_ENST00000346717.4_Missense_Mutation_p.G365R|PDE1A_ENST00000409365.1_Missense_Mutation_p.G383R|PDE1A_ENST00000331935.6_Missense_Mutation_p.G399R|PDE1A_ENST00000456212.1_Missense_Mutation_p.G399R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	399	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AATGGAAGCCCTAATTCAGCT	0.413																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(1195-1197)Ggg>Agg		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							150.0	158.0	155.0					2																	183053766		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183053766C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1195G>A	2.37:g.183053766C>T	ENSP00000387037:p.Gly399Arg					PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.3_Missense_Mutation_p.G383R|PDE1A_uc002uou.3_Missense_Mutation_p.G365R	p.G399R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		11	1279	-			399			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1195G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912102	0.92178	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.6	5.6	0.85130	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.991;0.999;0.999	D	0.95014	0.8154	10	0.87932	D	0	.	18.9615	0.92679	0.0:1.0:0.0:0.0	.	295;365;399;383;399	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	R	399;365;295;383;399;383;399;399;399	ENSP00000410309:G399R;ENSP00000329112:G365R;ENSP00000439938:G295R;ENSP00000386767:G383R;ENSP00000331574:G399R;ENSP00000309269:G383R;ENSP00000387037:G399R;ENSP00000350858:G399R;ENSP00000408874:G399R	ENSP00000331574:G399R	G	-	1	0	PDE1A	182762011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.142000	0.77339	2.793000	0.96121	0.591000	0.81541	GGG		0.413	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
C20orf27	54976	broad.mit.edu	37	20	3735070	3735070	+	Missense_Mutation	SNP	C	C	T	rs374709259		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:3735070C>T	ENST00000379772.3	-	5	1208	c.398G>A	c.(397-399)cGc>cAc	p.R133H	C20orf27_ENST00000217195.8_Missense_Mutation_p.R158H	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CACCGTCACGCGCACACAGGT	0.602																																						uc002wjh.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(472-474)cGc>cAc		Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.		C	HIS/ARG	0,4406		0,0,2203	117.0	100.0	106.0		473	3.9	0.9	20		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	C20orf27	NM_001039140.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	158/200	3735070	1,13005	2203	4300	6503	SO:0001583	missense	54976							g.chr20:3735070C>T	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.398G>A	20.37:g.3735070C>T	ENSP00000369097:p.Arg133His					C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Missense_Mutation_p.R133H	p.R158H	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN			4	702	-			133					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.473G>A	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047907	0.36085	0.0	1.16E-4	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672	.	.	.	4.82	3.86	0.44501	.	0.489617	0.16493	N	0.212032	T	0.26340	0.0643	N	0.19112	0.55	0.29882	N	0.825937	B;B	0.15930	0.001;0.015	B;B	0.06405	0.0;0.002	T	0.13072	-1.0523	9	0.42905	T	0.14	-6.8665	7.8463	0.29426	0.0:0.813:0.0:0.187	.	133;158	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	H	133;158;133	.	ENSP00000217195:R158H	R	-	2	0	C20orf27	3683070	0.463000	0.25799	0.878000	0.34440	0.507000	0.33981	0.769000	0.26604	1.373000	0.46208	0.561000	0.74099	CGC		0.602	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140	
HAO1	54363	broad.mit.edu	37	20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T	rs373454999		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:7864254C>T	ENST00000378789.3	-	8	1150	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	367					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V367F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373																																						uc002wmw.1																			1	Substitution - Missense(1)	p.V367F(2)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1099-1101)Gtt>Att		Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.		C	ILE/VAL	0,4406		0,0,2203	157.0	142.0	147.0		1099	3.7	1.0	20		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAO1	NM_017545.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	367/371	7864254	1,13005	2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7864254C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1099G>A	20.37:g.7864254C>T	ENSP00000368066:p.Val367Ile						p.V367I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			7	1123	-			367					Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.1099G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044063	0.19748	0.0	1.16E-4	ENSG00000101323	ENST00000378789	T	0.30448	1.53	5.64	3.69	0.42338	.	0.703764	0.14461	N	0.318165	T	0.12263	0.0298	N	0.02539	-0.55	0.23487	N	0.997574	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.18710	T	0.47	-15.8898	9.8105	0.40820	0.0:0.7719:0.1539:0.0742	.	367	Q9UJM8	HAOX1_HUMAN	I	367	ENSP00000368066:V367I	ENSP00000368066:V367I	V	-	1	0	HAO1	7812254	0.739000	0.28196	0.990000	0.47175	0.996000	0.88848	0.936000	0.28938	0.708000	0.31955	0.591000	0.81541	GTT		0.373	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
SYNDIG1	79953	broad.mit.edu	37	20	24565630	24565630	+	Splice_Site	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:24565630G>A	ENST00000376862.3	+	3	1251		c.e3+1		SYNDIG1_ENST00000482637.1_Splice_Site	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1						intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTCCCATGAGGTAAGGCCTCC	0.627																																						uc002wtw.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.e3+1		Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.							130.0	117.0	122.0					20																	24565630		2203	4300	6503	SO:0001630	splice_region_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565630G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.618+1G>A	20.37:g.24565630G>A							p.E206_splice	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			3	1251	+			206					Q6IA30|Q9H514	Splice_Site	SNP	ENST00000376862.3	37	c.618_splice	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910407	0.72983	.	.	ENSG00000101463	ENST00000376862	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0241	0.64575	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNDIG1	24513630	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.639000	0.98448	2.382000	0.81193	0.561000	0.74099	.		0.627	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	Intron
PTK6	5753	broad.mit.edu	37	20	62168644	62168644	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:62168644G>T	ENST00000217185.2	-	1	51	c.24C>A	c.(22-24)caC>caA	p.H8Q	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	8					cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	TGGGGCCCAGGTGAGCCTGGT	0.716																																						uc002yfg.3																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(22-24)caC>caA		Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.							15.0	16.0	15.0					20																	62168644		2182	4286	6468	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62168644G>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.24C>A	20.37:g.62168644G>T	ENSP00000217185:p.His8Gln					PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.H8Q	p.H8Q	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		0	64	-	all_cancers(38;2.51e-11)		8					B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.24C>A	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026065	0.35701	.	.	ENSG00000101213	ENST00000217185	T	0.73469	-0.75	4.48	2.21	0.28008	Src homology-3 domain (2);	0.436137	0.16578	U	0.208311	T	0.54398	0.1856	L	0.27053	0.805	0.20403	N	0.9999	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.29458	-1.0011	10	0.17832	T	0.49	.	5.4324	0.16460	0.1516:0.2108:0.6377:0.0	.	8;8	B4DWV1;Q13882	.;PTK6_HUMAN	Q	8	ENSP00000217185:H8Q	ENSP00000217185:H8Q	H	-	3	2	PTK6	61639088	0.000000	0.05858	0.003000	0.11579	0.207000	0.24258	0.472000	0.22116	0.876000	0.35872	0.491000	0.48974	CAC		0.716	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1		
KRTAP13-2	337959	broad.mit.edu	37	21	31744289	31744289	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:31744289G>A	ENST00000399889.2	-	1	268	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	81	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602																																						uc002ynz.4																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(241-243)taC>taT		Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.							60.0	60.0	60.0					21																	31744289		2203	4300	6503	SO:0001819	synonymous_variant	337959					intermediate filament		g.chr21:31744289G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.243C>T	21.37:g.31744289G>A							p.Y81Y	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			0	269	-			81			5 X 10 AA approximate repeats.			Silent	SNP	ENST00000399889.2	37	c.243C>T	CCDS13589.1																																																																																				0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1		
KRTAP10-12	386685	broad.mit.edu	37	21	46117748	46117748	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:46117748T>C	ENST00000400365.3	+	1	662	c.632T>C	c.(631-633)gTc>gCc	p.V211A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	211	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CGCGTGCCCGTCCCCTCCTGC	0.726																																						uc002zfw.1																			0				large_intestine(1)|lung(8)	9						c.(631-633)gTc>gCc		Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.							52.0	67.0	62.0					21																	46117748		2200	4292	6492	SO:0001583	missense	386685					keratin filament		g.chr21:46117748T>C	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.632T>C	21.37:g.46117748T>C	ENSP00000383216:p.Val211Ala					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V211A	NM_198699	NP_941972	P60413	KR10C_HUMAN			0	662	+			211			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.632T>C	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	t	0.458	-0.890437	0.02491	.	.	ENSG00000189169	ENST00000400365	T	0.01422	4.91	2.72	-5.44	0.02624	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.48725	-0.9010	9	0.11182	T	0.66	.	4.4553	0.11640	0.0:0.2183:0.2613:0.5205	.	211	P60413	KR10C_HUMAN	A	211	ENSP00000383216:V211A	ENSP00000383216:V211A	V	+	2	0	KRTAP10-12	44942176	0.000000	0.05858	0.007000	0.13788	0.021000	0.10359	-2.077000	0.01371	-1.287000	0.02381	0.248000	0.18094	GTC		0.726	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
STXBP5L	9515	broad.mit.edu	37	3	121126274	121126274	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:121126274G>C	ENST00000273666.6	+	24	3115	c.2844G>C	c.(2842-2844)caG>caC	p.Q948H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q924H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q948H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q924H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q922H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	948					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGATCATCAGTATACAATAA	0.378																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2842-2844)caG>caC		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							124.0	118.0	120.0					3																	121126274		1880	4115	5995	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126274G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2844G>C	3.37:g.121126274G>C	ENSP00000273666:p.Gln948His					STXBP5L_uc011bji.2_Missense_Mutation_p.Q924H	p.Q948H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	23	2984	+			948					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2844G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834372	0.32421	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.41758	0.99;0.99;1.76;1.76;1.76;0.99	5.33	4.45	0.53987	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.058274	0.64402	D	0.000001	T	0.33556	0.0867	L	0.43152	1.355	0.47905	D	0.999544	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.10019	-1.0648	10	0.23891	T	0.37	-8.2693	11.006	0.47635	0.1628:0.0:0.8372:0.0	.	924;948	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	948;924;924;922;948;891	ENSP00000273666:Q948H;ENSP00000420019:Q924H;ENSP00000419627:Q924H;ENSP00000420287:Q922H;ENSP00000420666:Q948H;ENSP00000420167:Q891H	ENSP00000273666:Q948H	Q	+	3	2	STXBP5L	122608964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.015000	0.29963	1.386000	0.46466	0.650000	0.86243	CAG		0.378	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
DNAJB11	51726	broad.mit.edu	37	3	186302367	186302367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:186302367delA	ENST00000439351.1	+	10	1930	c.1001delA	c.(1000-1002)gaafs	p.E334fs	DNAJB11_ENST00000265028.3_Frame_Shift_Del_p.E334fs			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	334					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTAACAGAGGAAGCGAGAGAA	0.413																																						uc003fqi.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(1000-1002)gaafs		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.							93.0	86.0	88.0					3																	186302367		2203	4300	6503	SO:0001589	frameshift_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302367delA	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.1001delA	3.37:g.186302367delA	ENSP00000414398:p.Glu334fs						p.E334fs	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	8	1736	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		334					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Frame_Shift_Del	DEL	ENST00000439351.1	37	c.1001delA	CCDS3277.1																																																																																				0.413	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1		
UGT2B4	7363	broad.mit.edu	37	4	70361103	70361103	+	Silent	SNP	C	C	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr4:70361103C>G	ENST00000305107.6	-	1	523	c.477G>C	c.(475-477)ctG>ctC	p.L159L	UGT2B4_ENST00000512583.1_Silent_p.L159L|UGT2B4_ENST00000381096.3_Silent_p.L23L|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	159					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTCGGCCAGCAGCTCACCAA	0.428																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(475-477)ctG>ctC		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							49.0	50.0	50.0					4																	70361103		2174	4297	6471	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361103C>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.477G>C	4.37:g.70361103C>G						UGT2B4_uc011cap.2_Silent_p.L23L|UGT2B4_uc003hel.4_Silent_p.L159L	p.L159L	NM_021139	NP_066962	P06133	UD2B4_HUMAN			0	524	-			159					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.477G>C	CCDS43234.1																																																																																				0.428	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G							p.H897H	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			20	2829	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
IRX1	79192	broad.mit.edu	37	5	3601124	3601124	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:3601124G>A	ENST00000302006.3	+	4	1465	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	471					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGGAACGCCGCGGATCCTAG	0.652																																						uc003jde.3																			0		p.P471R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1411-1413)ccG>ccA		Homo sapiens iroquois homeobox 1 (IRX1), mRNA.							50.0	55.0	53.0					5																	3601124		2202	4300	6502	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601124G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1413G>A	5.37:g.3601124G>A							p.P471P	NM_024337	NP_077313	P78414	IRX1_HUMAN			3	1465	+			471					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.1413G>A	CCDS34132.1																																																																																				0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
TARS	6897	broad.mit.edu	37	5	33461376	33461376	+	Missense_Mutation	SNP	C	C	G	rs376335480		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:33461376C>G	ENST00000265112.3	+	13	1838	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	TARS_ENST00000541634.1_Missense_Mutation_p.I405M|TARS_ENST00000502553.1_Missense_Mutation_p.I509M|TARS_ENST00000455217.2_Missense_Mutation_p.I542M|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.I388M	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	509					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTGGAGATATCGAAGTATGGG	0.373																																						uc003jhy.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1525-1527)atC>atG		Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	L-Threonine(DB00156)						93.0	97.0	96.0					5																	33461376		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461376C>G	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1527C>G	5.37:g.33461376C>G	ENSP00000265112:p.Ile509Met					TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.2_Missense_Mutation_p.I530M|TARS_uc003jhz.3_Missense_Mutation_p.I405M|TARS_uc011cod.2_Missense_Mutation_p.I388M	p.I509M	NM_152295	NP_689508	P26639	SYTC_HUMAN			12	1822	+			509					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1527C>G	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243818	0.39697	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.99	4.83	0.62350	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.148772	0.64402	D	0.000010	T	0.78266	0.4256	H	0.96833	3.89	0.48762	D	0.999703	P;B;B;B	0.41450	0.75;0.312;0.038;0.152	B;B;B;B	0.40864	0.342;0.341;0.106;0.235	T	0.82589	-0.0382	10	0.62326	D	0.03	1.9129	11.9912	0.53176	0.0:0.0673:0.0:0.9327	.	388;542;405;509	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	M	509;509;405;542;388	ENSP00000424387:I509M;ENSP00000265112:I509M;ENSP00000438469:I405M;ENSP00000387710:I542M;ENSP00000394291:I388M	ENSP00000265112:I509M	I	+	3	3	TARS	33497133	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.724000	0.25954	1.098000	0.41479	-0.238000	0.12139	ATC		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
RPS12	6206	broad.mit.edu	37	6	133137703	133137703	+	Splice_Site	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr6:133137703G>T	ENST00000230050.3	+	4	444		c.e4+1		SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORA33_ENST00000363664.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CCTAATTAAGGTAAGGCTGCT	0.438																																						uc003qdx.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.e4+1		Homo sapiens ribosomal protein S12 (RPS12), mRNA.							73.0	70.0	71.0					6																	133137703		2203	4300	6503	SO:0001630	splice_region_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133137703G>T	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.234+1G>T	6.37:g.133137703G>T						SNORA33_uc003qdy.1_3'UTR	p.K78_splice	NM_001016	NP_001007	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	4	316	+	Breast(56;0.214)		78					Q76M58	Splice_Site	SNP	ENST00000230050.3	37	c.234_splice	CCDS5164.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889529	0.72524	.	.	ENSG00000112306	ENST00000230050	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1951	0.86891	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPS12	133179396	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	6.391000	0.73208	2.134000	0.65973	0.655000	0.94253	.		0.438	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016	Intron
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PCLO	27445	broad.mit.edu	37	7	82784773	82784773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:82784773G>A	ENST00000333891.9	-	2	1521	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	PCLO_ENST00000423517.2_Missense_Mutation_p.P395L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAACTCCAGGAGGCTGAGC	0.592																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1183-1185)cCt>cTt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							79.0	80.0	79.0					7																	82784773		1983	4159	6142	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784773G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1184C>T	7.37:g.82784773G>A	ENSP00000334319:p.Pro395Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P395L	p.P395L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1473	-			346			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1184C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232766	0.05983	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	4.32	0.266	0.15617	.	.	.	.	.	T	0.12603	0.0306	L	0.41492	1.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30090	-0.9990	9	0.87932	D	0	.	4.2233	0.10568	0.3451:0.0:0.5043:0.1506	.	395;395	Q9Y6V0-5;Q9Y6V0-6	.;.	L	395	ENSP00000334319:P395L;ENSP00000388393:P395L	ENSP00000334319:P395L	P	-	2	0	PCLO	82622709	0.000000	0.05858	0.000000	0.03702	0.760000	0.43138	-0.630000	0.05502	-0.068000	0.12953	0.655000	0.94253	CCT		0.592	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
GATA4	2626	broad.mit.edu	37	8	11607632	11607632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:11607632C>T	ENST00000335135.4	+	4	1354	c.796C>T	c.(796-798)Cga>Tga	p.R266*	GATA4_ENST00000528712.1_Nonsense_Mutation_p.R60*|GATA4_ENST00000532059.1_Nonsense_Mutation_p.R267*	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	266					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGCCTCCCGCCGAGTGGGCCT	0.632																																						uc011kxc.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	GRCh37	CM051500	GATA4	M		c.(799-801)Cga>Tga		Homo sapiens GATA binding protein 4 (GATA4), mRNA.							53.0	51.0	52.0					8																	11607632		2203	4300	6503	SO:0001587	stop_gained	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607632C>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.796C>T	8.37:g.11607632C>T	ENSP00000334458:p.Arg266*					GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc003wuc.2_Nonsense_Mutation_p.R266*	p.R267*	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	2	1256	+	all_epithelial(15;0.0839)		266					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Nonsense_Mutation	SNP	ENST00000335135.4	37	c.799C>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	38	6.770898	0.97825	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-49.5978	18.1495	0.89669	0.0:1.0:0.0:0.0	.	.	.	.	X	60;60;266;265;267	.	ENSP00000259090:R265X	R	+	1	2	GATA4	11645041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.955000	0.49121	2.507000	0.84556	0.655000	0.94253	CGA		0.632	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052	
SLC18A1	6570	broad.mit.edu	37	8	20022464	20022464	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:20022464A>T	ENST00000276373.5	-	10	1197	c.931T>A	c.(931-933)Ttt>Att	p.F311I	SLC18A1_ENST00000437980.1_Missense_Mutation_p.F311I|SLC18A1_ENST00000381608.4_Missense_Mutation_p.F311I|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.F311I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	311					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ATGTTGGCAAAGCAGATGGAC	0.612																																						uc011kyq.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(931-933)Ttt>Att		Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.							82.0	70.0	74.0					8																	20022464		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20022464A>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.931T>A	8.37:g.20022464A>T	ENSP00000276373:p.Phe311Ile					SLC18A1_uc003wzm.3_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.3_Intron|SLC18A1_uc010ltf.3_Non-coding_Transcript	p.F311I	NM_001135691	NP_003044	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	10	1402	-			311					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.931T>A	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721379	0.30503	.	.	ENSG00000036565	ENST00000276373;ENST00000440926;ENST00000437980;ENST00000381608	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.69	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.170003	0.52532	D	0.000067	T	0.68522	0.3010	L	0.33137	0.985	0.46586	D	0.999115	B;P	0.36683	0.09;0.565	B;B	0.38616	0.122;0.277	T	0.58031	-0.7708	10	0.12103	T	0.63	-6.6842	9.5322	0.39200	0.8526:0.0:0.1474:0.0	.	311;311	E9PB33;P54219	.;VMAT1_HUMAN	I	311	ENSP00000276373:F311I;ENSP00000387549:F311I;ENSP00000413361:F311I;ENSP00000371021:F311I	ENSP00000276373:F311I	F	-	1	0	SLC18A1	20066744	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.134000	0.57990	0.396000	0.25283	0.482000	0.46254	TTT		0.612	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
MRPL13	28998	broad.mit.edu	37	8	121432169	121432170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:121432169_121432170insT	ENST00000306185.3	-	5	606_607	c.315_316insA	c.(313-318)aaactafs	p.L106fs		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	106					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAATAGCTAGTTTTACAATCT	0.356																																						uc003ypa.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(313-318)aaactafs		Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001589	frameshift_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121432169_121432170insT	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.316dupA	8.37:g.121432173_121432173dupT	ENSP00000306548:p.Leu106fs					MRPL13_uc010mdf.3_Non-coding_Transcript	p.K105fs	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	628_629	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		105					B2R4R8|Q9UI04	Frame_Shift_Ins	INS	ENST00000306185.3	37	c.315_316insA	CCDS6332.1																																																																																				0.356	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078	
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						uc003zjr.3																			4	Substitution - Missense(4)	p.I984L(8)	lung(2)|endometrium(1)|kidney(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2950-2952)Ata>Cta		Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu					RANBP6_uc011lmf.2_Missense_Mutation_p.I632L|RANBP6_uc003zjs.3_3'UTR	p.I984L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	0	2983	-		Acute lymphoblastic leukemia(23;0.158)	984					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
AQP7	364	broad.mit.edu	37	9	33385701	33385701	+	Missense_Mutation	SNP	T	T	C	rs34690144		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr9:33385701T>C	ENST00000537089.1	-	6	731	c.413A>G	c.(412-414)gAc>gGc	p.D138G	AQP7_ENST00000541274.1_Silent_p.G98G|AQP7_ENST00000377425.4_Missense_Mutation_p.D173G|AQP7_ENST00000539936.1_Missense_Mutation_p.D230G			O14520	AQP7_HUMAN	aquaporin 7	230					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGGGGGCAGGTCCCGGGACGG	0.587																																						uc003zst.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(688-690)gAc>gGc		Homo sapiens aquaporin 7 (AQP7), mRNA.							81.0	86.0	84.0					9																	33385701		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385701T>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.413A>G	9.37:g.33385701T>C	ENSP00000441619:p.Asp138Gly					AQP7_uc003zsu.1_Missense_Mutation_p.D173G|AQP7_uc010mjs.2_Missense_Mutation_p.D138G|AQP7_uc010mjt.2_Missense_Mutation_p.D138G|AQP7_uc011lny.1_Missense_Mutation_p.D229G|AQP7_uc003zss.3_Missense_Mutation_p.D138G|AQP7_uc011lnz.1_Missense_Mutation_p.D138G|AQP7_uc011loa.1_Silent_p.G98G|AQP7_uc011lnx.1_Missense_Mutation_p.D230G	p.D230G	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	861	-			230					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.689A>G		.	.	.	.	.	.	.	.	.	.	t	24.0	4.477075	0.84640	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.04	5.04	0.67666	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	H	0.97564	4.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68569	-0.5374	10	0.87932	D	0	-33.3312	12.7904	0.57530	0.0:0.0:0.0:1.0	.	229;230;173;230	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	G	138;229;98;230;173;138;229;230;166	ENSP00000441619:D138G;ENSP00000368821:D229G;ENSP00000412868:D98G;ENSP00000297988:D230G;ENSP00000396111:D173G;ENSP00000410138:D138G;ENSP00000368820:D229G;ENSP00000439534:D230G;ENSP00000368817:D166G	ENSP00000297988:D230G	D	-	2	0	AQP7	33375701	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.583000	0.82559	2.118000	0.64928	0.449000	0.29647	GAC		0.587	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
EGFL6	25975	broad.mit.edu	37	X	13637337	13637337	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:13637337G>A	ENST00000361306.1	+	9	1415	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	EGFL6_ENST00000380602.3_Silent_p.A386A	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	386					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGGAAAGCGCTAACTTCCA	0.388																																						uc004cvj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(1156-1158)gcG>gcA		Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.							128.0	116.0	120.0					X																	13637337		2203	4300	6503	SO:0001819	synonymous_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13637337G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1158G>A	X.37:g.13637337G>A						EGFL6_uc004cvi.3_Silent_p.A386A|EGFL6_uc011mik.1_Silent_p.A287A	p.A386A	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN			8	1445	+			386					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	37	c.1158G>A	CCDS14155.1																																																																																				0.388	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	
RPS6KA3	6197	broad.mit.edu	37	X	20193367	20193367	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:20193367A>T	ENST00000379565.3	-	14	1349	c.1142T>A	c.(1141-1143)cTt>cAt	p.L381H	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L352H|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L353H|RPS6KA3_ENST00000479809.1_5'Flank|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L353H	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	381	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L381H(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CCCCCGAAAAAGCTGATGTGC	0.393																																						uc004czu.3																			1	Substitution - Missense(1)	p.L381H(2)	central_nervous_system(1)	breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1141-1143)cTt>cAt		Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.							128.0	110.0	116.0					X																	20193367		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20193367A>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1142T>A	X.37:g.20193367A>T	ENSP00000368884:p.Leu381His					RPS6KA3_uc011mjk.2_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.3_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.2_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.2_Missense_Mutation_p.L353H	p.L381H	NM_004586	NP_004577	P51812	KS6A3_HUMAN			13	1142	-			381			AGC-kinase C-terminal.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1142T>A	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.161575	0.57368	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.05	3.86	0.44501	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	0.994;0.997;1.0;0.76	D;D;D;P	0.79108	0.928;0.94;0.992;0.589	T	0.69339	-0.5171	10	0.62326	D	0.03	.	10.5066	0.44836	0.8527:0.0:0.0:0.1473	.	353;352;353;381	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	H	381;353;352;353	ENSP00000368884:L381H;ENSP00000440220:L353H;ENSP00000368865:L352H;ENSP00000444837:L353H	ENSP00000368865:L352H	L	-	2	0	RPS6KA3	20103288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	0.573000	0.29400	0.437000	0.28790	CTT		0.393	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
XK	7504	broad.mit.edu	37	X	37553630	37553630	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:37553630G>T	ENST00000378616.3	+	2	540	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	113					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCCAAAAAATGGCCTCTCAGA	0.488																																						uc004ddq.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(337-339)Ggc>Tgc		Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.							83.0	63.0	70.0					X																	37553630		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553630G>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.337G>T	X.37:g.37553630G>T	ENSP00000367879:p.Gly113Cys						p.G113C	NM_021083	NP_066569	P51811	XK_HUMAN			1	419	+		all_lung(315;0.175)	113					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.337G>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785669	0.90282	.	.	ENSG00000047597	ENST00000378616	T	0.73363	-0.74	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.86502	0.5948	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86937	0.2077	10	0.72032	D	0.01	-21.5184	19.4805	0.95008	0.0:0.0:1.0:0.0	.	113	P51811	XK_HUMAN	C	113	ENSP00000367879:G113C	ENSP00000367879:G113C	G	+	1	0	XK	37438569	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.555000	0.86185	0.513000	0.50165	GGC		0.488	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083	
SYP	6855	broad.mit.edu	37	X	49048172	49048172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:49048172C>T	ENST00000263233.4	-	6	736	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	SYP_ENST00000479808.1_Missense_Mutation_p.V222M|SYP_ENST00000538567.1_Missense_Mutation_p.V104M	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	222	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.V222M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCCTTAAACACGAACCACAGG	0.682																																						uc004dmz.1																			1	Substitution - Missense(1)	p.V222M(2)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15						c.(664-666)Gtg>Atg		Homo sapiens synaptophysin (SYP), mRNA.							8.0	9.0	9.0					X																	49048172		1852	3776	5628	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49048172C>T	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.664G>A	X.37:g.49048172C>T	ENSP00000263233:p.Val222Met					SYP_uc011mmz.1_Missense_Mutation_p.V104M	p.V222M	NM_003179	NP_003170	P08247	SYPH_HUMAN			5	680	-		all_lung(315;0.00016)	222			MARVEL.		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.664G>A	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053160	0.93793	.	.	ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808	T;T;T	0.69175	-0.38;-0.38;-0.38	5.5	5.5	0.81552	Marvel (1);	0.063907	0.64402	D	0.000008	T	0.68504	0.3008	M	0.61703	1.905	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	T	0.74688	-0.3581	10	0.87932	D	0	-26.3233	17.1004	0.86648	0.0:1.0:0.0:0.0	.	222	P08247	SYPH_HUMAN	M	222;104;222	ENSP00000263233:V222M;ENSP00000437456:V104M;ENSP00000418169:V222M	ENSP00000263233:V222M	V	-	1	0	SYP	48935116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.569000	0.82380	2.303000	0.77524	0.600000	0.82982	GTG		0.682	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179	
AWAT1	158833	broad.mit.edu	37	X	69455983	69455983	+	Silent	SNP	C	C	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:69455983C>A	ENST00000374521.3	+	3	290	c.249C>A	c.(247-249)ccC>ccA	p.P83P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	83					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACTATTTCCCCATTACGGTAA	0.483																																						uc004dxy.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(247-249)ccC>ccA		Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.							147.0	122.0	130.0					X																	69455983		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69455983C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.249C>A	X.37:g.69455983C>A							p.P83P	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			2	290	+			83					Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.249C>A	CCDS35321.1																																																																																				0.483	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	
NONO	4841	broad.mit.edu	37	X	70516705	70516705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:70516705C>T	ENST00000276079.8	+	7	956	c.751C>T	c.(751-753)Cga>Tga	p.R251*	NONO_ENST00000373856.3_Nonsense_Mutation_p.R251*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Nonsense_Mutation_p.R162*|NONO_ENST00000373841.1_Nonsense_Mutation_p.R251*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	251	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTATAGGGAACGAGAGCAGCC	0.493			T	TFE3	papillary renal cancer																																	uc004dzo.3				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(751-753)Cga>Tga		Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.							55.0	49.0	51.0					X																	70516705		2203	4300	6503	SO:0001587	stop_gained	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70516705C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.751C>T	X.37:g.70516705C>T	ENSP00000276079:p.Arg251*					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Nonsense_Mutation_p.R251*|NONO_uc004dzp.3_Nonsense_Mutation_p.R251*|NONO_uc011mpv.2_Nonsense_Mutation_p.R162*|NONO_uc004dzq.3_Nonsense_Mutation_p.R120*	p.R251*	NM_001145408	NP_001138882	Q15233	NONO_HUMAN			7	1461	+	Renal(35;0.156)		251			DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	c.751C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	35	5.460986	0.96240	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858	.	.	.	5.06	-0.313	0.12754	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2747	16.0556	0.80801	0.7181:0.2819:0.0:0.0	.	.	.	.	X	162;251;251;251;159	.	ENSP00000276079:R251X	R	+	1	2	NONO	70433430	1.000000	0.71417	0.818000	0.32626	0.984000	0.73092	1.868000	0.39509	-0.424000	0.07382	0.529000	0.55759	CGA		0.493	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
GPR101	83550	broad.mit.edu	37	X	136113395	136113395	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:136113395G>A	ENST00000298110.1	-	1	438	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTAACCGCGGCGCTGGGTC	0.597																																						uc011mwh.2																			0		p.R146H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(439-441)Cgc>Tgc		Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.							56.0	44.0	48.0					X																	136113395		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113395G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.439C>T	X.37:g.136113395G>A	ENSP00000298110:p.Arg147Cys						p.R147C	NM_054021	NP_473362	Q96P66	GP101_HUMAN			0	439	-	Acute lymphoblastic leukemia(192;0.000127)		147					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.439C>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924024	0.52653	.	.	ENSG00000165370	ENST00000298110	T	0.41065	1.01	5.04	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32970	N	0.005426	T	0.54095	0.1837	M	0.75884	2.315	0.39406	D	0.966669	D	0.76494	0.999	P	0.60609	0.877	T	0.57225	-0.7848	10	0.87932	D	0	-6.5313	5.2831	0.15686	0.1117:0.0:0.5351:0.3531	.	147	Q96P66	GP101_HUMAN	C	147	ENSP00000298110:R147C	ENSP00000298110:R147C	R	-	1	0	GPR101	135941061	1.000000	0.71417	0.878000	0.34440	0.955000	0.61496	1.811000	0.38942	0.887000	0.36136	0.600000	0.82982	CGC		0.597	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
