#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CYP4Z2P	163720	broad.mit.edu	37	1	47364570	47364570	+	RNA	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:47364570C>T	ENST00000505841.1	-	0	266					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TGAAGAACATCGTAAAGGGTC	0.433																																						ENST00000505841.1																			0																																																			0							g.chr1:47364570C>T	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47364570C>T								NR_002788.2						0	266	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.433	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		14	52	0	0	0	1	0	14	52				
SLC30A8	169026	broad.mit.edu	37	8	118169991	118169991	+	Silent	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:118169991C>T	ENST00000456015.2	+	4	480	c.480C>T	c.(478-480)taC>taT	p.Y160Y	SLC30A8_ENST00000427715.2_Silent_p.Y111Y|SLC30A8_ENST00000521243.1_Silent_p.Y111Y|SLC30A8_ENST00000519688.1_Silent_p.Y111Y	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	160					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTAGTGTACCTGGCATGTG	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(331-333)taC>taT		solute carrier family 30 (zinc transporter), member 8							317.0	275.0	289.0					8																	118169991		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118169991C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.480C>T	8.37:g.118169991C>T						SLC30A8_ENST00000521243.1_Silent_p.Y111Y|SLC30A8_ENST00000519688.1_Silent_p.Y111Y|SLC30A8_ENST00000456015.2_Silent_p.Y160Y	p.Y111Y	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	767	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		160					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.333C>T	CCDS6322.1																																																																																				0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	230	0	0	0	1	0	5	230				
ATP1A2	477	broad.mit.edu	37	1	160099088	160099088	+	Silent	SNP	T	T	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:160099088T>C	ENST00000361216.3	+	11	1448	c.1359T>C	c.(1357-1359)gcT>gcC	p.A453A	ATP1A2_ENST00000392233.3_Silent_p.A453A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	453					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGAGTCAGCTCTGCTCAAGT	0.532																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1357-1359)gcT>gcC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							167.0	162.0	164.0					1																	160099088		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099088T>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1359T>C	1.37:g.160099088T>C						ATP1A2_ENST00000392233.3_Silent_p.A453A|ATP1A2_ENST00000472488.1_3'UTR	p.A453A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1448	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		453					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1359T>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551677	0.27739	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	-3.45	0.04781	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	.	7.0025	0.24817	0.1311:0.4785:0.0:0.3905	.	.	.	.	P	164	.	.	L	+	2	0	ATP1A2	158365712	0.000000	0.05858	0.974000	0.42286	0.991000	0.79684	-1.946000	0.01536	-0.632000	0.05553	0.459000	0.35465	CTC		0.532	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		29	223	0	0	0	1	0	29	223				
SPIB	6689	broad.mit.edu	37	19	50926944	50926944	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:50926944T>G	ENST00000595883.1	+	5	447	c.422T>G	c.(421-423)cTg>cGg	p.L141R	SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000597855.1_Silent_p.P129P|SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000596074.1_Silent_p.P69P|CTD-2545M3.6_ENST00000599632.1_Silent_p.P275P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	141					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCCTGCCCTGGAGGTCTCG	0.667																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(421-423)cTg>cGg		Spi-B transcription factor (Spi-1/PU.1 related)							62.0	55.0	57.0					19																	50926944		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926944T>G		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.422T>G	19.37:g.50926944T>G	ENSP00000471921:p.Leu141Arg					SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000596074.1_Silent_p.P69P|SPIB_ENST00000597855.1_Silent_p.P129P	p.L141R	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	447	+		all_neural(266;0.131)	141					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.422T>G	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	18.63	3.664772	0.67700	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.61859	0.07;1.78	4.03	4.03	0.46877	.	0.176545	0.25978	N	0.027095	T	0.70020	0.3176	M	0.63843	1.955	0.38404	D	0.945753	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.87578	0.979;0.998;0.979	T	0.74318	-0.3704	10	0.72032	D	0.01	-7.1018	9.5165	0.39109	0.0:0.0:0.0:1.0	.	50;141;141	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	R	141;50	ENSP00000270632:L141R;ENSP00000391877:L50R	ENSP00000270632:L141R	L	+	2	0	SPIB	55618756	1.000000	0.71417	0.989000	0.46669	0.906000	0.53458	2.773000	0.47686	1.818000	0.53035	0.379000	0.24179	CTG		0.667	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		13	24	0	0	0	1	0	13	24				
MICALL2	79778	broad.mit.edu	37	7	1484421	1484421	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:1484421C>T	ENST00000297508.7	-	6	1460	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	429	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGTGCCGGGGGGCACT	0.632																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(1285-1287)Ggc>Agc		MICAL-like 2							10.0	5.0	6.0					7																	1484421		2107	4104	6211	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484421C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1285G>A	7.37:g.1484421C>T	ENSP00000297508:p.Gly429Ser					MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S	p.G429S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	1460	-		Ovarian(82;0.0253)	429					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1285G>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	c	7.773	0.707937	0.15239	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68331	2.54;-0.32	4.15	-8.31	0.01001	.	1.898990	0.03009	N	0.149218	T	0.37571	0.1008	N	0.04880	-0.145	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.28235	-1.0050	10	0.12766	T	0.61	.	8.1449	0.31106	0.1084:0.45:0.0:0.4416	.	429	Q8IY33	MILK2_HUMAN	S	217;429	ENSP00000385928:G217S;ENSP00000297508:G429S	ENSP00000297508:G429S	G	-	1	0	MICALL2	1450947	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.518000	0.06267	-1.621000	0.01562	-1.982000	0.00454	GGC		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		5	58	0	0	0	1	0	5	58				
TTN	7273	broad.mit.edu	37	2	179393601	179393601	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:179393601A>C	ENST00000591111.1	-	310	102178	c.101954T>G	c.(101953-101955)tTa>tGa	p.L33985*	TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.L35626*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33985	Ig-like 150.				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)			GTTGGCTTTTAAAACCAGTCT	0.433																																						ENST00000589042.1																			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.(106876-106878)tTa>tGa		titin							139.0	128.0	132.0					2																	179393601		1971	4163	6134	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393601A>C	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.101954T>G	2.37:g.179393601A>C	ENSP00000465570:p.Leu33985*					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L33985*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA	p.L35626*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	107101	-			33985					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.106877T>G		.	.	.	.	.	.	.	.	.	.	A	80	147.791356	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3694	0.74551	1.0:0.0:0.0:0.0	.	.	.	.	X	33058;26561;26753;26686;26558	.	ENSP00000340554:L26753X	L	-	2	0	TTN	179101847	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.410000	0.90225	2.108000	0.64289	0.459000	0.35465	TTA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	21	0	0	0	1	0	10	21				
PLAA	9373	broad.mit.edu	37	9	26926460	26926460	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:26926460C>T	ENST00000397292.3	-	5	1081	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PLAA_ENST00000520884.1_Missense_Mutation_p.E222K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	222					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAAGACACTCGCCAGTGATT	0.328																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(664-666)Gag>Aag		phospholipase A2-activating protein							89.0	94.0	92.0					9																	26926460		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26926460C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.664G>A	9.37:g.26926460C>T	ENSP00000380460:p.Glu222Lys					PLAA_ENST00000520884.1_Missense_Mutation_p.E222K	p.E222K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	5	1081	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	222					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.664G>A	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.521990|3.521990	0.64747|0.64747	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	T;T|.	0.59906|.	0.23;0.23|.	4.83|4.83	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50120|0.50120	0.1597|0.1597	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	B;B|.	0.20988|.	0.008;0.05|.	B;B|.	0.21151|.	0.005;0.033|.	T|T	0.47302|0.47302	-0.9128|-0.9128	10|5	0.11794|.	T|.	0.64|.	-3.2567|-3.2567	17.9185|17.9185	0.88959|0.88959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	222;222|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	K|Q	222|198	ENSP00000380460:E222K;ENSP00000429372:E222K|.	ENSP00000380460:E222K|.	E|R	-|-	1|2	0|0	PLAA|PLAA	26916460|26916460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.317000|4.317000	0.59184|0.59184	2.226000|2.226000	0.72624|0.72624	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.328	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		31	45	0	0	0	1	0	31	45				
PCDHA9	9752	broad.mit.edu	37	5	140229523	140229523	+	Silent	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:140229523C>T	ENST00000532602.1	+	1	2476	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.D481D	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGGGACGCTGACGCGC	0.657																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1441-1443)gaC>gaT									56.0	63.0	61.0					5																	140229523		2195	4266	6461	SO:0001819	synonymous_variant	0							g.chr5:140229523C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1443C>T	5.37:g.140229523C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.D481D|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.D481D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2167	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1443C>T	CCDS54920.1																																																																																				0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		34	82	0	0	0	1	0	34	82				
LOC100289333	100289333	broad.mit.edu	37	19	12318385	12318385	+	lincRNA	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:12318385G>A	ENST00000426044.1	+	0	127																											CATGGTGACAGCTAATTAGAT	0.343																																						ENST00000426044.1																			0																																																			0							g.chr19:12318385G>A																													19.37:g.12318385G>A														0	127	+									RNA	SNP	ENST00000426044.1	37																																																																																						0.343	CTD-2666L21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344136.1			3	8	0	0	0	1	0	3	8				
CDHR1	92211	broad.mit.edu	37	10	85962835	85962835	+	Missense_Mutation	SNP	G	G	A	rs184579670		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:85962835G>A	ENST00000372117.3	+	8	842	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M|CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCTGTCTTCGTGGGCACACC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(739-741)Gtg>Atg		cadherin-related family member 1							253.0	185.0	208.0					10																	85962835		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85962835G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.739G>A	10.37:g.85962835G>A	ENSP00000361189:p.Val247Met					CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M|CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M	p.V247M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			8	842	+			247			Cadherin 3.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.739G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050062	0.75846	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.39056	4.61;4.61;1.1	5.06	5.06	0.68205	Cadherin (3);Cadherin-like (1);	0.243315	0.40640	N	0.001060	T	0.59891	0.2227	M	0.73962	2.25	0.28780	N	0.899904	D;D;D	0.76494	0.999;0.96;0.967	D;P;B	0.64042	0.921;0.57;0.421	T	0.58869	-0.7560	10	0.56958	D	0.05	-14.4731	11.5038	0.50454	0.0859:0.0:0.9141:0.0	.	6;247;247	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	M	247;247;6	ENSP00000331063:V247M;ENSP00000361189:V247M;ENSP00000415980:V6M	ENSP00000331063:V247M	V	+	1	0	CDHR1	85952815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.010000	0.57117	2.650000	0.89964	0.650000	0.86243	GTG		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		13	107	0	0	0	1	0	13	107				
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299																																						ENST00000278882.3																			6	Unknown(6)	p.?(6)	kidney(4)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e4+1																																						SO:0001630	splice_region_variant	0							g.chr20:29624093G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.116+1G>T	20.37:g.29624093G>T						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								4	496	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37			.	.	.	.	.	.	.	.	.	.	.	11.58	1.679853	0.29783	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28237754	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	4	23	1	0	0.00116845	1	0.00120614	4	23				
GNB1L	54584	broad.mit.edu	37	22	19789726	19789726	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:19789726G>T	ENST00000329517.6	-	7	766	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	177					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTGGGCGGGAGCTGCAGTC	0.637																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(529-531)tCc>tAc		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							37.0	36.0	36.0					22																	19789726		2202	4300	6502	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19789726G>T	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.530C>A	22.37:g.19789726G>T	ENSP00000331313:p.Ser177Tyr					GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR	p.S177Y	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			7	766	-	Colorectal(54;0.0993)		177					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.530C>A	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276665	0.23307	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.19938	2.11;2.11;4.92	5.46	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.742669	0.12113	U	0.498302	T	0.23492	0.0568	L	0.49778	1.585	0.35104	D	0.765492	P	0.35208	0.49	B	0.38056	0.264	T	0.26467	-1.0102	10	0.87932	D	0	-17.0595	10.4204	0.44346	0.0739:0.1355:0.7906:0.0	.	177	Q9BYB4	GNB1L_HUMAN	Y	177	ENSP00000331313:S177Y;ENSP00000385154:S177Y;ENSP00000384626:S177Y	ENSP00000331313:S177Y	S	-	2	0	GNB1L	18169726	0.999000	0.42202	0.656000	0.29637	0.365000	0.29674	2.699000	0.47077	0.737000	0.32582	0.561000	0.74099	TCC		0.637	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			14	65	1	0	1.05317e-09	1	1.16212e-09	14	65				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	91	0	0	0	1	0	6	91				
SPTA1	6708	broad.mit.edu	37	1	158618311	158618311	+	Silent	SNP	G	G	T	rs376004665		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:158618311G>T	ENST00000368147.4	-	26	3882	c.3702C>A	c.(3700-3702)ccC>ccA	p.P1234P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1234					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)					TATCTCCCAGGGGTACGAGGT	0.493																																						ENST00000368148.3																			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.(3700-3702)ccC>ccA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G		0,3828		0,0,1914	109.0	109.0	109.0		3702	-0.9	1.0	1		109	1,8251		0,1,4125	no	coding-synonymous	SPTA1	NM_003126.2		0,1,6039	TT,TG,GG		0.0121,0.0,0.0083		1234/2420	158618311	1,12079	1914	4126	6040	SO:0001819	synonymous_variant	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.chr1:158618311G>T	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.3702C>A	1.37:g.158618311G>T						SPTA1_ENST00000368147.3_Silent_p.P1234P	p.P1234P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3882	-	all_hematologic(112;0.0378)		1234					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3702C>A	CCDS41423.1																																																																																				0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		43	71	1	0	6.1244e-12	1	6.87652e-12	43	71				
EYS	346007	broad.mit.edu	37	6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	rs377622148		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(19-21)Gtc>Atc		eyes shut homolog (Drosophila)		T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62.0	60.0	61.0		19,19,19	0.5	0.0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205285C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile					EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370621.3_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I	p.V7I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	556	-			7					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.19G>A		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		14	39	0	0	0	1	0	14	39				
ABTB1	80325	broad.mit.edu	37	3	127399141	127399141	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr3:127399141G>A	ENST00000232744.8	+	12	1346	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	ABTB1_ENST00000468137.1_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A|ABTB1_ENST00000453791.2_Silent_p.A278A					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCGTGGAGGCGGTGAAGGAGG	0.672																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(832-834)gcG>gcA		ankyrin repeat and BTB (POZ) domain containing 1							44.0	39.0	41.0					3																	127399141		2202	4298	6500	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399141G>A	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1260G>A	3.37:g.127399141G>A						ABTB1_ENST00000453791.2_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A|ABTB1_ENST00000232744.8_Silent_p.A420A	p.A278A			Q969K4	ABTB1_HUMAN			11	1450	+			420			BTB 2.			Silent	SNP	ENST00000232744.8	37	c.834G>A	CCDS3045.1																																																																																				0.672	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		10	28	0	0	0	1	0	10	28				
WDR11	55717	broad.mit.edu	37	10	122662580	122662580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:122662580G>T	ENST00000263461.6	+	23	3013	c.2767G>T	c.(2767-2769)Gaa>Taa	p.E923*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTATGGTGATGAATCGGAGCT	0.542																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2767-2769)Gaa>Taa		WD repeat domain 11							120.0	93.0	102.0					10																	122662580		2203	4300	6503	SO:0001587	stop_gained	55717					integral to membrane		g.chr10:122662580G>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2767G>T	10.37:g.122662580G>T	ENSP00000263461:p.Glu923*					WDR11_ENST00000604509.1_3'UTR	p.E923*	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			23	3013	+			923					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	c.2767G>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	38	7.036185	0.98017	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	4.86	0.63082	.	0.095810	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.5858	14.8702	0.70450	0.0688:0.0:0.9312:0.0	.	.	.	.	X	923	.	ENSP00000263461:E923X	E	+	1	0	WDR11	122652570	1.000000	0.71417	0.176000	0.23000	0.021000	0.10359	9.132000	0.94455	1.570000	0.49709	0.655000	0.94253	GAA		0.542	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			8	44	1	0	0.000274275	1	0.000287764	8	44				
CCND3	896	broad.mit.edu	37	6	41908118	41908118	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:41908118C>A	ENST00000372991.4	-	2	602	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CCND3_ENST00000510503.1_Missense_Mutation_p.R54L|CCND3_ENST00000511642.1_Missense_Mutation_p.R54L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000415497.2_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	135	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCAACTGGCGGGGAGAGAC	0.597			T	IGH@	MM																																	ENST00000511642.1				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0				endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20						c.(160-162)cGc>cTc		cyclin D3							73.0	76.0	75.0					6																	41908118		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908118C>A		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.404G>T	6.37:g.41908118C>A	ENSP00000362082:p.Arg135Leu					CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000510503.1_Missense_Mutation_p.R54L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000372991.4_Missense_Mutation_p.R135L	p.R54L			P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	912	-	Colorectal(47;0.121)		135			Cyclin N-terminal.		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.161G>T	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.28|14.28	2.487102|2.487102	0.44249|0.44249	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000512426|ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064	.|T;T;T;T;T;T	.|0.11821	.|2.74;2.74;2.74;2.74;2.74;2.74	4.78|4.78	2.67|2.67	0.31697|0.31697	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.782498	.|0.11476	.|N	.|0.560215	T|T	0.03827|0.03827	0.0108|0.0108	L|L	0.35854|0.35854	1.095|1.095	0.27793|0.27793	N|N	0.942764|0.942764	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.12837	.|0.002;0.001;0.008	T|T	0.36890|0.36890	-0.9729|-0.9729	5|10	.|0.52906	.|T	.|0.07	.|.	6.2044|6.2044	0.20593|0.20593	0.0:0.5841:0.0:0.4159|0.0:0.5841:0.0:0.4159	.|.	.|54;135;85	.|B4E0N5;P30281;Q5T8J1	.|.;CCND3_HUMAN;.	S|L	70|135;54;85;54;54;54	.|ENSP00000362082:R135L;ENSP00000426212:R54L;ENSP00000362078:R85L;ENSP00000362079:R54L;ENSP00000425986:R54L;ENSP00000425830:R54L	.|ENSP00000362078:R85L	A|R	-|-	1|2	0|0	CCND3|CCND3	42016096|42016096	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	0.374000|0.374000	0.20501|0.20501	1.007000|1.007000	0.39238|0.39238	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.597	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		52	68	1	0	4.32865e-36	1	4.94703e-36	52	68				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	210	0	0	0	1	0	6	210				
SYNE3	161176	broad.mit.edu	37	14	95909521	95909521	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:95909521C>T	ENST00000334258.5	-	10	1896	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	SYNE3_ENST00000557275.1_Missense_Mutation_p.D628N|SYNE3_ENST00000554873.1_Missense_Mutation_p.D385N	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	628					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GCCTGGAAGTCGGAGGAAAGC	0.627																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1882-1884)Gac>Aac		spectrin repeat containing, nuclear envelope family member 3							87.0	96.0	93.0					14																	95909521		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95909521C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1882G>A	14.37:g.95909521C>T	ENSP00000334308:p.Asp628Asn					SYNE3_ENST00000554873.1_Missense_Mutation_p.D385N|SYNE3_ENST00000557275.1_Missense_Mutation_p.D628N	p.D628N	NM_152592.3	NP_689805.3					10	1896	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1882G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220694	0.58560	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	5.07	3.16	0.36331	.	0.157646	0.29529	N	0.011899	T	0.42810	0.1219	L	0.34521	1.04	0.20489	N	0.999892	D;D	0.89917	1.0;1.0	D;P	0.64687	0.928;0.848	T	0.32666	-0.9898	10	0.21540	T	0.41	-15.8854	12.6153	0.56573	0.0:0.6797:0.3203:0.0	.	628;628	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	N	628;385;628	ENSP00000334308:D628N;ENSP00000452154:D385N;ENSP00000450562:D628N	ENSP00000334308:D628N	D	-	1	0	C14orf49	94979274	0.601000	0.26907	0.025000	0.17156	0.633000	0.38033	0.676000	0.25247	0.478000	0.27488	0.561000	0.74099	GAC		0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		15	27	0	0	0	1	0	15	27				
ZNF804B	219578	broad.mit.edu	37	7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A	rs377052292		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:88964976G>A	ENST00000333190.4	+	4	3289	c.2680G>A	c.(2680-2682)Ggg>Agg	p.G894R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	894							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2680-2682)Ggg>Agg		zinc finger protein 804B							67.0	71.0	69.0					7																	88964976		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964976G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2680G>A	7.37:g.88964976G>A	ENSP00000329638:p.Gly894Arg	HNSCC(36;0.09)					p.G894R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3289	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		894					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2680G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255842	0.10185	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.34	3.53	0.40419	.	0.690370	0.14415	N	0.321031	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	B	0.22541	0.071	B	0.12156	0.007	T	0.46624	-0.9178	10	0.10377	T	0.69	-0.9706	7.1563	0.25639	0.1612:0.2384:0.6005:0.0	.	894	A4D1E1	Z804B_HUMAN	R	894	ENSP00000329638:G894R	ENSP00000329638:G894R	G	+	1	0	ZNF804B	88802912	0.050000	0.20438	0.001000	0.08648	0.003000	0.03518	1.691000	0.37721	0.817000	0.34445	-0.119000	0.15052	GGG		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		39	71	0	0	0	1	0	39	71				
C6orf165	154313	broad.mit.edu	37	6	88173768	88173768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:88173768G>A	ENST00000507897.1	+	13	1752	c.1669G>A	c.(1669-1671)Gta>Ata	p.V557I	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	557										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTCACTCAGTACAAACTGA	0.388																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1669-1671)Gta>Ata		chromosome 6 open reading frame 165							46.0	46.0	46.0					6																	88173768		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88173768G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1669G>A	6.37:g.88173768G>A	ENSP00000426769:p.Val557Ile					C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I|C6orf165_ENST00000506888.1_3'UTR	p.V557I			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	13	1752	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	557					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1669G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928938	0.18131	.	.	ENSG00000213204	ENST00000369562	T	0.32272	1.46	5.68	4.81	0.61882	.	0.666563	0.15887	N	0.239776	T	0.15132	0.0365	M	0.72894	2.215	0.28125	N	0.93046	B	0.34181	0.44	B	0.27500	0.08	T	0.11108	-1.0601	10	0.51188	T	0.08	.	9.1534	0.36978	0.2067:0.0:0.7933:0.0	.	557	Q8IYR0	CF165_HUMAN	I	557	ENSP00000358575:V557I	ENSP00000358575:V557I	V	+	1	0	C6orf165	88230487	0.989000	0.36119	0.614000	0.29051	0.068000	0.16541	2.168000	0.42424	1.404000	0.46819	0.563000	0.77884	GTA		0.388	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		23	34	0	0	0	1	0	23	34				
NOTCH1	4851	broad.mit.edu	37	9	139400029	139400029	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:139400029A>G	ENST00000277541.6	-	25	4394	c.4319T>C	c.(4318-4320)aTc>aCc	p.I1440T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1440					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGGGGGGATGTCGCGCCC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4318-4320)aTc>aCc		notch 1							15.0	20.0	18.0					9																	139400029		2016	4152	6168	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400029A>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4319T>C	9.37:g.139400029A>G	ENSP00000277541:p.Ile1440Thr	HNSCC(8;0.001)					p.I1440T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4394	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1440					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4319T>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739989	0.49045	.	.	ENSG00000148400	ENST00000277541	D	0.81579	-1.51	4.45	4.45	0.53987	.	0.000000	0.85682	U	0.000000	T	0.77658	0.4163	N	0.04959	-0.14	0.49299	D	0.99977	D	0.76494	0.999	D	0.83275	0.996	T	0.79478	-0.1787	10	0.37606	T	0.19	.	12.8999	0.58119	1.0:0.0:0.0:0.0	.	1440	P46531	NOTC1_HUMAN	T	1440	ENSP00000277541:I1440T	ENSP00000277541:I1440T	I	-	2	0	NOTCH1	138519850	1.000000	0.71417	0.989000	0.46669	0.661000	0.39034	8.767000	0.91732	1.637000	0.50538	0.472000	0.43445	ATC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	28	0	0	0	1	0	7	28				
PTCH2	8643	broad.mit.edu	37	1	45307636	45307636	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:45307636C>T	ENST00000372192.3	-	2	278	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	PTCH2_ENST00000447098.2_Missense_Mutation_p.G50R	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	50					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTGGATCCCGCATCCCAGA	0.552									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(148-150)Ggg>Agg		patched 2							114.0	113.0	114.0					1																	45307636		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307636C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.148G>A	1.37:g.45307636C>T	ENSP00000361266:p.Gly50Arg					PTCH2_ENST00000372192.3_Missense_Mutation_p.G50R	p.G50R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			2	159	-	Acute lymphoblastic leukemia(166;0.155)		50					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.148G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806256	0.16467	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	T;T	0.71579	-0.58;-0.58	4.49	2.12	0.27331	.	0.494573	0.17436	N	0.174299	T	0.40743	0.1129	N	0.04508	-0.205	0.24385	N	0.994776	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.27082	T	0.32	0.038	2.8554	0.05571	0.3084:0.3995:0.0:0.2921	.	50	Q9Y6C5	PTC2_HUMAN	R	50	ENSP00000389703:G50R;ENSP00000361266:G50R	ENSP00000361266:G50R	G	-	1	0	PTCH2	45080223	0.067000	0.21026	0.987000	0.45799	0.676000	0.39594	-0.056000	0.11787	0.250000	0.21479	-0.258000	0.10820	GGG		0.552	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		85	90	0	0	0	1	0	85	90				
BCAR3	8412	broad.mit.edu	37	1	94054885	94054885	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:94054885T>G	ENST00000370244.1	-	7	866	c.578A>C	c.(577-579)aAg>aCg	p.K193T	RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T|BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	193	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGCGAGGTTCTTCCACTGACA	0.547																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(577-579)aAg>aCg		breast cancer anti-estrogen resistance 3							54.0	54.0	54.0					1																	94054885		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054885T>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.578A>C	1.37:g.94054885T>G	ENSP00000359264:p.Lys193Thr					BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T	p.K193T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	866	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	193			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.578A>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083897	0.76642	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.96	4.96	0.65561	SH2 motif (4);	0.044485	0.85682	D	0.000000	T	0.64170	0.2574	L	0.44542	1.39	0.80722	D	1	D;D	0.60160	0.973;0.987	D;P	0.64506	0.926;0.905	T	0.68903	-0.5286	10	0.62326	D	0.03	-2.1118	14.9211	0.70838	0.0:0.0:0.0:1.0	.	193;102	O75815;Q5TEW3	BCAR3_HUMAN;.	T	102;193;193;193	ENSP00000359267:K102T;ENSP00000260502:K193T;ENSP00000359264:K193T;ENSP00000359263:K193T	ENSP00000260502:K193T	K	-	2	0	BCAR3	93827473	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.729000	0.54999	1.997000	0.58415	0.459000	0.35465	AAG		0.547	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	52	0	0	0	1	0	4	52				
FRY	10129	broad.mit.edu	37	13	32818263	32818263	+	Missense_Mutation	SNP	G	G	A	rs369792017		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr13:32818263G>A	ENST00000380250.3	+	47	7268	c.6772G>A	c.(6772-6774)Gtt>Att	p.V2258I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2258						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTTCTGTCGTTCCTGTCAA	0.473																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6772-6774)Gtt>Att		furry homolog (Drosophila)		G	ILE/VAL	0,3928		0,0,1964	118.0	117.0	118.0		6772	4.0	0.0	13		118	1,8325		0,1,4162	no	missense	FRY	NM_023037.2	29	0,1,6126	AA,AG,GG		0.012,0.0,0.0082	benign	2258/3014	32818263	1,12253	1964	4163	6127	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32818263G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6772G>A	13.37:g.32818263G>A	ENSP00000369600:p.Val2258Ile						p.V2258I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	47	7268	+		Lung SC(185;0.0271)	2258					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6772G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048856	0.07407	0.0	1.2E-4	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22336	1.96	5.84	4.04	0.47022	.	0.161304	0.53938	N	0.000059	T	0.06325	0.0163	N	0.01003	-1.06	0.36761	D	0.883264	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	10	0.30078	T	0.28	.	6.6843	0.23136	0.435:0.0:0.565:0.0	.	2258	Q5TBA9	FRY_HUMAN	I	2258;1095	ENSP00000369600:V2258I	ENSP00000369600:V2258I	V	+	1	0	FRY	31716263	0.460000	0.25776	0.009000	0.14445	0.231000	0.25187	1.007000	0.29860	0.735000	0.32537	0.650000	0.86243	GTT		0.473	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		13	49	0	0	0	1	0	13	49				
RAD21	5885	broad.mit.edu	37	8	117868410	117868410	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:117868410A>T	ENST00000297338.2	-	8	1219	c.932T>A	c.(931-933)aTa>aAa	p.I311K	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	311	Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTACCAGTTATATCAATAGG	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(931-933)aTa>aAa		RAD21 homolog (S. pombe)							153.0	141.0	145.0					8																	117868410		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117868410A>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.932T>A	8.37:g.117868410A>T	ENSP00000297338:p.Ile311Lys						p.I311K	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			8	1219	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		311			Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.932T>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679666	0.88542	.	.	ENSG00000164754	ENST00000297338	T	0.62232	0.04	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.67953	2.075	0.80722	D	1	D	0.65815	0.995	P	0.57911	0.829	T	0.67917	-0.5546	10	0.06625	T	0.88	-4.3376	15.806	0.78513	1.0:0.0:0.0:0.0	.	311	O60216	RAD21_HUMAN	K	311	ENSP00000297338:I311K	ENSP00000297338:I311K	I	-	2	0	RAD21	117937591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.327000	0.96396	2.135000	0.66039	0.528000	0.53228	ATA		0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		45	73	0	0	0	1	0	45	73				
APLP1	333	broad.mit.edu	37	19	36362814	36362814	+	Silent	SNP	C	C	T	rs148987065	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:36362814C>T	ENST00000221891.4	+	6	918	c.726C>T	c.(724-726)gaC>gaT	p.D242D	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Silent_p.D203D|APLP1_ENST00000586861.1_Silent_p.D236D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	242	Poly-Glu.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTGAGGACGAGGAAGAGG	0.637													T|||	6	0.00119808	0.0	0.0	5008	,	,		16532	0.0		0.003	False		,,,				2504	0.0031					ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(724-726)gaC>gaT		amyloid beta (A4) precursor-like protein 1		T	,	0,4406		0,0,2203	70.0	73.0	72.0		726,726	-9.3	0.1	19	dbSNP_134	72	9,8591	817.5+/-406.9	0,9,4291	no	coding-synonymous,coding-synonymous	APLP1	NM_001024807.1,NM_005166.3	,	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	,	242/652,242/651	36362814	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362814C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.726C>T	19.37:g.36362814C>T						APLP1_ENST00000586861.1_Silent_p.D236D|APLP1_ENST00000537454.2_Silent_p.D203D	p.D242D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	918	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		242			Poly-Glu.		O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.726C>T	CCDS32997.1																																																																																				0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		69	109	0	0	0	1	0	69	109				
BBS10	79738	broad.mit.edu	37	12	76740974	76740974	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr12:76740974A>C	ENST00000393262.3	-	2	874	c.791T>G	c.(790-792)aTt>aGt	p.I264S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	264					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAGAGGCTGAATGGTTTCTGT	0.393									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(790-792)aTt>aGt		Bardet-Biedl syndrome 10							67.0	57.0	61.0					12																	76740974		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740974A>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.791T>G	12.37:g.76740974A>C	ENSP00000376946:p.Ile264Ser						p.I264S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	874	-			264					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.791T>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.011091	0.54361	.	.	ENSG00000179941	ENST00000393262	D	0.82344	-1.6	5.13	5.13	0.70059	.	0.360192	0.25765	N	0.028444	D	0.85779	0.5776	L	0.56769	1.78	0.31794	N	0.629304	D	0.54397	0.966	P	0.52856	0.711	D	0.88362	0.2988	10	0.72032	D	0.01	-3.9585	14.568	0.68191	1.0:0.0:0.0:0.0	.	264	Q8TAM1	BBS10_HUMAN	S	264	ENSP00000376946:I264S	ENSP00000376946:I264S	I	-	2	0	BBS10	75265105	1.000000	0.71417	0.793000	0.32043	0.721000	0.41392	6.733000	0.74796	2.281000	0.76405	0.528000	0.53228	ATT		0.393	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		5	34	0	0	0	1	0	5	34				
PI4KA	5297	broad.mit.edu	37	22	21083999	21083999	+	Splice_Site	SNP	C	C	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:21083999C>A	ENST00000572273.1	-	38	4465	c.4235G>T	c.(4234-4236)gGc>gTc	p.G1412V	PI4KA_ENST00000255882.6_Splice_Site_p.G1470V|PI4KA_ENST00000414196.3_Splice_Site_p.G222V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1412					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTAGACATGCCTAGGAGGAA	0.537																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.e38-1		phosphatidylinositol 4-kinase, catalytic, alpha							47.0	48.0	48.0					22																	21083999		2202	4299	6501	SO:0001630	splice_region_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083999C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4235-1G>T	22.37:g.21083999C>A						PI4KA_ENST00000414196.3_Splice_Site_p.G222_splice|PI4KA_ENST00000572273.1_Splice_Site_p.G1412_splice	p.G1470_splice	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		38	4495	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1412					Q7Z625|Q9UPG2	Splice_Site	SNP	ENST00000572273.1	37	c.4408_splice		.	.	.	.	.	.	.	.	.	.	C	20.5	4.004989	0.74932	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.76709	-1.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.62723	1.935	0.80722	D	1	P	0.38395	0.629	B	0.37239	0.244	T	0.72534	-0.4264	10	0.16896	T	0.51	.	18.8111	0.92058	0.0:1.0:0.0:0.0	.	1412	P42356	PI4KA_HUMAN	V	1412;222	ENSP00000402981:G222V	ENSP00000255882:G1412V	G	-	2	0	PI4KA	19413999	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.539000	0.82063	2.687000	0.91594	0.563000	0.77884	GGC		0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Missense_Mutation	4	6	1	0	4.096e-09	1	4.44312e-09	4	6				
ZNF432	9668	broad.mit.edu	37	19	52537922	52537922	+	Missense_Mutation	SNP	C	C	A	rs374713969		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52537922C>A	ENST00000594154.1	-	5	1222	c.1010G>T	c.(1009-1011)cGa>cTa	p.R337L	ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L			O94892	ZN432_HUMAN	zinc finger protein 432	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTATGAGTTCGCTGATGTAT	0.408																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1009-1011)cGa>cTa		zinc finger protein 432							116.0	104.0	108.0					19																	52537922		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537922C>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1010G>T	19.37:g.52537922C>A	ENSP00000470488:p.Arg337Leu					ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L	p.R337L			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1222	-		all_neural(266;0.117)	337						Missense_Mutation	SNP	ENST00000594154.1	37	c.1010G>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122454	0.56613	.	.	ENSG00000256087	ENST00000221315	T	0.25085	1.82	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	L	0.28054	0.825	0.24748	N	0.992995	D	0.65815	0.995	P	0.59948	0.866	T	0.07347	-1.0777	9	0.72032	D	0.01	.	9.9255	0.41489	0.0:0.7895:0.2105:0.0	.	337	O94892	ZN432_HUMAN	L	337	ENSP00000221315:R337L	ENSP00000221315:R337L	R	-	2	0	ZNF432	57229734	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.048000	0.14078	1.630000	0.50440	0.585000	0.79938	CGA		0.408	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		4	124	1	0	0.150653	1	0.150653	4	124				
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A	rs370300707		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463																																						ENST00000313555.1																			1	Substitution - Missense(1)	p.A105T(1)	lung(1)	endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(313-315)Gct>Act		olfactory receptor, family 5, subfamily AS, member 1		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	104.0	89.0	94.0		313	4.5	1.0	11		94	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AS1	NM_001001921.1	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	105/325	55798207	2,12992	2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798207G>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.313G>A	11.37:g.55798207G>A	ENSP00000324111:p.Ala105Thr						p.A105T	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	313	+	Esophageal squamous(21;0.00693)		105					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.313G>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203770	0.38905	2.27E-4	1.16E-4	ENSG00000181785	ENST00000313555	T	0.00570	6.51	5.46	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.228496	0.22097	U	0.064673	T	0.00328	0.0010	N	0.12471	0.22	0.09310	N	1	P	0.42161	0.772	B	0.30943	0.122	T	0.59144	-0.7509	10	0.49607	T	0.09	.	10.8719	0.46887	0.0:0.1412:0.7125:0.1463	.	105	Q8N127	O5AS1_HUMAN	T	105	ENSP00000324111:A105T	ENSP00000324111:A105T	A	+	1	0	OR5AS1	55554783	0.000000	0.05858	0.977000	0.42913	0.931000	0.56810	0.111000	0.15458	1.274000	0.44362	0.643000	0.83706	GCT		0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		16	35	0	0	0	1	0	16	35				
EXTL3	2137	broad.mit.edu	37	8	28573785	28573785	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573785G>A	ENST00000220562.4	+	3	1111	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCCGGGTGGGGAACGAGCTG	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(208-210)gGg>gAg		exostosin-like glycosyltransferase 3							115.0	107.0	110.0					8																	28573785		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573785G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.209G>A	8.37:g.28573785G>A	ENSP00000220562:p.Gly70Glu					EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.G70E	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1111	+		Ovarian(32;0.069)	70					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.209G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275724	0.23307	.	.	ENSG00000012232	ENST00000220562	D	0.95001	-3.58	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	D	0.85606	0.1255	9	.	.	.	-16.8872	19.4523	0.94872	0.0:0.0:1.0:0.0	.	70	O43909	EXTL3_HUMAN	E	70	ENSP00000220562:G70E	.	G	+	2	0	EXTL3	28629704	1.000000	0.71417	0.149000	0.22428	0.591000	0.36615	9.869000	0.99810	2.600000	0.87896	0.491000	0.48974	GGG		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		24	16	0	0	0	1	0	24	16				
CSPP1	79848	broad.mit.edu	37	8	68105709	68105709	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:68105709G>A	ENST00000262210.5	+	28	3357	c.3326G>A	c.(3325-3327)cGt>cAt	p.R1109H	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H|CSPP1_ENST00000521168.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1144					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATAGCAGTCGTCCTAATGTA	0.403																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3325-3327)cGt>cAt		centrosome and spindle pole associated protein 1							137.0	129.0	131.0					8																	68105709		1874	4109	5983	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68105709G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3326G>A	8.37:g.68105709G>A	ENSP00000262210:p.Arg1109His					CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H|CSPP1_ENST00000521168.1_Intron|ARFGEF1_ENST00000520381.1_Intron	p.R1109H	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		28	3357	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1144					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.3326G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615544	0.28801	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32515	1.45;1.46;1.46	5.73	-0.701	0.11269	.	1.560660	0.03412	N	0.204932	T	0.11024	0.0269	N	0.02802	-0.49	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13629	-1.0502	10	0.17369	T	0.5	0.2468	0.2437	0.00196	0.3248:0.1421:0.2502:0.2829	.	764;1109;1144	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	H	1109;1144;764;764	ENSP00000262210:R1109H;ENSP00000415782:R764H;ENSP00000430092:R764H	ENSP00000262210:R1109H	R	+	2	0	CSPP1	68268263	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	-0.218000	0.09240	-0.061000	0.13110	0.655000	0.94253	CGT		0.403	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	47	0	0	0	1	0	8	47				
SOS1	6654	broad.mit.edu	37	2	39250208	39250208	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:39250208C>T	ENST00000426016.1	-	11	1447	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.G454E			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	454	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTTTGGCTCCTACACGTGT	0.393									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1360-1362)gGa>gAa		son of sevenless homolog 1 (Drosophila)							120.0	112.0	115.0					2																	39250208		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250208C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1361G>A	2.37:g.39250208C>T	ENSP00000387784:p.Gly454Glu					SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000402219.2_Missense_Mutation_p.G454E	p.G454E			Q07889	SOS1_HUMAN			11	1447	-		all_hematologic(82;0.21)	454			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1361G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101167	0.76983	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.75260	-0.92;-0.92;-0.92	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.78637	2.42	0.80722	D	1	D;D	0.65815	0.995;0.995	P;D	0.63703	0.901;0.917	D	0.87110	0.2184	10	0.72032	D	0.01	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	186;454	F5GX06;Q07889	.;SOS1_HUMAN	E	454;454;186;454;454	ENSP00000387784:G454E;ENSP00000384675:G454E;ENSP00000378479:G454E	ENSP00000263879:G454E	G	-	2	0	SOS1	39103712	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.669000	0.83911	2.753000	0.94483	0.557000	0.71058	GGA		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		49	59	0	0	0	1	0	49	59				
AADACL4	343066	broad.mit.edu	37	1	12726653	12726653	+	Silent	SNP	C	C	T	rs368235693		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:12726653C>T	ENST00000376221.1	+	4	1131	c.1131C>T	c.(1129-1131)caC>caT	p.H377H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	377						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATGGTTTTCACGGATCCATTA	0.443																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1129-1131)caC>caT		arylacetamide deacetylase-like 4		C		0,4406		0,0,2203	76.0	80.0	79.0		1131	-4.0	0.0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AADACL4	NM_001013630.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		377/408	12726653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343066					integral to membrane	carboxylesterase activity	g.chr1:12726653C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1131C>T	1.37:g.12726653C>T							p.H377H	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1131	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	377						Silent	SNP	ENST00000376221.1	37	c.1131C>T	CCDS30590.1																																																																																				0.443	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		34	75	0	0	0	1	0	34	75				
GNAI1	2770	broad.mit.edu	37	7	79842101	79842101	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:79842101A>G	ENST00000351004.3	+	7	1163	c.790A>G	c.(790-792)Att>Gtt	p.I264V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	264					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGATACATCCATTATACTTTT	0.323																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Att>Gtt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							72.0	76.0	75.0					7																	79842101		2203	4296	6499	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842101A>G	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.790A>G	7.37:g.79842101A>G	ENSP00000343027:p.Ile264Val					GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V	p.I264V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1163	+			264					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.790A>G	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589566	0.66105	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90133	-2.62;-2.62	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	D	0.83484	0.0066	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	264	P63096	GNAI1_HUMAN	V	264;212	ENSP00000343027:I264V;ENSP00000410572:I212V	.	I	+	1	0	GNAI1	79680037	1.000000	0.71417	0.906000	0.35671	0.993000	0.82548	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATT		0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		39	45	0	0	0	1	0	39	45				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	62	0	0	0	1	0	5	62				
SUGCT	79783	broad.mit.edu	37	7	40900013	40900013	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:40900013T>C	ENST00000335693.4	+	14	1296	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H	C7orf10_ENST00000309930.5_Missense_Mutation_p.Y451H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		425					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTCCTGAGATACGATGACAG	0.572																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1351-1353)Tac>Cac		chromosome 7 open reading frame 10							81.0	91.0	87.0					7																	40900013		2128	4220	6348	SO:0001583	missense	79783						transferase activity	g.chr7:40900013T>C																												ENST00000335693.4:c.1273T>C	7.37:g.40900013T>C	ENSP00000338475:p.Tyr425His					C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y425H	p.Y451H	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1375	+			425					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1351T>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792592	0.50102	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86865	-2.18;-0.51;-0.51	5.7	5.7	0.88788	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.962;0.962;0.987	D	0.94253	0.7495	10	0.62326	D	0.03	-7.6621	15.6243	0.76840	0.0:0.0:0.0:1.0	.	377;425;414	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	H	451;377;425	ENSP00000312054:Y451H;ENSP00000385222:Y377H;ENSP00000338475:Y425H	ENSP00000312054:Y451H	Y	+	1	0	C7orf10	40866538	1.000000	0.71417	0.747000	0.31113	0.003000	0.03518	5.275000	0.65575	2.165000	0.68154	0.533000	0.62120	TAC		0.572	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			6	181	0	0	0	1	0	6	181				
SPECC1L	23384	broad.mit.edu	37	22	24717686	24717686	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:24717686G>A	ENST00000314328.9	+	5	1023	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.L246L|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.L246L|SPECC1L_ENST00000437398.1_Silent_p.L246L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	246					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TATTGCAGTTGCAGGAACAGA	0.433																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(736-738)ttG>ttA		sperm antigen with calponin homology and coiled-coil domains 1-like							119.0	121.0	121.0					22																	24717686		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24717686G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.738G>A	22.37:g.24717686G>A						SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.L246L|KB-1896H10.1_ENST00000358654.2_Silent_p.L246L|SPECC1L_ENST00000437398.1_Silent_p.L246L	p.L246L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	1023	+			246					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.738G>A	CCDS33619.1																																																																																				0.433	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		39	145	0	0	0	1	0	39	145				
TENM2	57451	broad.mit.edu	37	5	167675119	167675119	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:167675119C>T	ENST00000518659.1	+	27	7214	c.7175C>T	c.(7174-7176)aCg>aTg	p.T2392M	TENM2_ENST00000519204.1_Missense_Mutation_p.T2271M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGCAGTACACGGCCTATGGG	0.532																																						ENST00000519204.1																			0											c.(6811-6813)aCg>aTg		teneurin transmembrane protein 2							163.0	163.0	163.0					5																	167675119		2001	4174	6175	SO:0001583	missense	57451							g.chr5:167675119C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7175C>T	5.37:g.167675119C>T	ENSP00000429430:p.Thr2392Met					TENM2_ENST00000518659.1_Missense_Mutation_p.T2392M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M	p.T2271M							26	6930	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6812C>T		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656207	0.67586	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.21;-2.32;-2.66;-2.69	4.62	4.62	0.57501	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76071	0.987;0.97;0.855	D	0.97151	0.9831	10	0.87932	D	0	.	17.997	0.89187	0.0:1.0:0.0:0.0	.	2391;2392;2153	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2392;2391;2271;2153;2216	ENSP00000429430:T2392M;ENSP00000438635:T2391M;ENSP00000428964:T2271M;ENSP00000427874:T2153M;ENSP00000384905:T2216M	ENSP00000384905:T2216M	T	+	2	0	ODZ2	167607697	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.609000	0.82925	2.556000	0.86216	0.561000	0.74099	ACG		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	203	0	0	0	1	0	4	203				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	110	0	0	0	1	0	5	110				
ZNF737	100129842	broad.mit.edu	37	19	20728670	20728670	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:20728670A>C	ENST00000427401.4	-	4	433	c.339T>G	c.(337-339)ttT>ttG	p.F113L		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	113					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGCCCTTTTTAAACTGTAAAT	0.353																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(337-339)ttT>ttG		zinc finger protein 737							133.0	101.0	111.0					19																	20728670		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728670A>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.339T>G	19.37:g.20728670A>C	ENSP00000395733:p.Phe113Leu						p.F113L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	433	-			113					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.339T>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.578356	0.00879	.	.	ENSG00000237440	ENST00000427401	T	0.05717	3.4	0.1	0.1	0.14510	.	.	.	.	.	T	0.01029	0.0034	N	0.00099	-2.14	0.20307	N	0.999913	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	9	0.02654	T	1	.	4.6041	0.12368	0.9995:0.0:5.0E-4:0.0	.	113	C9JHM3	.	L	113	ENSP00000395733:F113L	ENSP00000395733:F113L	F	-	3	2	ZNF737	20520510	0.000000	0.05858	0.315000	0.25238	0.315000	0.28087	-1.604000	0.02076	0.147000	0.19030	0.145000	0.16022	TTT		0.353	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	120	0	0	0	1	0	4	120				
SYNCRIP	10492	broad.mit.edu	37	6	86329033	86329033	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:86329033T>A	ENST00000369622.3	-	9	1611	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.K371*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	371	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCATAATCTTTTAACTTCTTC	0.363																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1111-1113)Aaa>Taa		synaptotagmin binding, cytoplasmic RNA interacting protein							142.0	134.0	136.0					6																	86329033		2203	4300	6503	SO:0001587	stop_gained	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86329033T>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1111A>T	6.37:g.86329033T>A	ENSP00000358635:p.Lys371*					SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.K371*	p.K371*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	9	1317	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	371			RRM 3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	ENST00000369622.3	37	c.1111A>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	38	7.276892	0.98182	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3453	0.74330	0.0:0.0:0.0:1.0	.	.	.	.	X	371	.	ENSP00000347380:K371X	K	-	1	0	SYNCRIP	86385752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.996000	0.88334	2.084000	0.62774	0.533000	0.62120	AAA		0.363	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		5	97	0	0	0	1	0	5	97				
DNAH2	146754	broad.mit.edu	37	17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5215-5217)tgG>tgA		dynein, axonemal, heavy chain 2							250.0	239.0	243.0					17																	7680922		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680922G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5217G>A	17.37:g.7680922G>A	ENSP00000458355:p.Trp1739*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*	p.W1739*			Q9P225	DYH2_HUMAN			33	6677	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1739			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.5217G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	46	12.308359	0.99656	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1309	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	1739	.	ENSP00000353818:W1739X	W	+	3	0	DNAH2	7621647	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.405000	0.97313	2.569000	0.86673	0.585000	0.79938	TGG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	422	0	0	0	1	0	5	422				
PLEKHH3	79990	broad.mit.edu	37	17	40822621	40822621	+	Silent	SNP	G	G	A	rs201447583		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:40822621G>A	ENST00000591022.1	-	10	1911	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	PLEKHH3_ENST00000412503.1_Silent_p.D505D|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.D505D	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	508	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTCGTGACCGTCTGGGGACA	0.627																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1513-1515)gaC>gaT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							53.0	53.0	53.0					17																	40822621		2203	4300	6503	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40822621G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1524C>T	17.37:g.40822621G>A						PLEKHH3_ENST00000412503.1_Silent_p.D505D|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Silent_p.D508D	p.D505D			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	10	1945	-		Breast(137;0.00116)	508			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1515C>T	CCDS11434.1																																																																																				0.627	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		5	88	0	0	0	1	0	5	88				
PPP2R1A	5518	broad.mit.edu	37	19	52723057	52723057	+	Silent	SNP	C	C	T	rs139139629		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52723057C>T	ENST00000322088.6	+	10	1300	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	414	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTGAGGACGCCAAGTGGC	0.627			Mis		clear cell ovarian carcinoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18148	0.0		0.0	False		,,,				2504	0.0					ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1240-1242)gaC>gaT		protein phosphatase 2, regulatory subunit A, alpha		C		0,4406		0,0,2203	64.0	57.0	59.0		1242	-6.6	0.9	19	dbSNP_134	59	6,8594	5.0+/-18.6	1,4,4295	no	coding-synonymous	PPP2R1A	NM_014225.5		1,4,6498	TT,TC,CC		0.0698,0.0,0.0461		414/590	52723057	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723057C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1242C>T	19.37:g.52723057C>T						PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D	p.D414D	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1300	+			414			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1242C>T	CCDS12849.1																																																																																				0.627	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		23	46	0	0	0	1	0	23	46				
GP1BA	2811	broad.mit.edu	37	17	4836806	4836806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:4836806G>A	ENST00000329125.5	+	2	982	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	303					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CACTGAGGGCGATAAGGTGCG	0.527																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(907-909)Gat>Aat		glycoprotein Ib (platelet), alpha polypeptide							119.0	111.0	114.0					17																	4836806		2000	4167	6167	SO:0001583	missense	2811							g.chr17:4836806G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.907G>A	17.37:g.4836806G>A	ENSP00000329380:p.Asp303Asn						p.D303N	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	982	+			303					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.907G>A	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513877	0.44763	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.50001	0.76	2.8	-2.73	0.05950	.	.	.	.	.	T	0.27594	0.0678	L	0.44542	1.39	0.09310	N	1	B	0.25772	0.134	B	0.14578	0.011	T	0.21655	-1.0239	9	0.19590	T	0.45	.	0.3409	0.00333	0.277:0.2007:0.3188:0.2035	.	303	A5CKE2	.	N	303	ENSP00000329380:D303N	ENSP00000329380:D303N	D	+	1	0	GP1BA	4777586	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.202000	0.09451	-0.241000	0.09681	0.313000	0.20887	GAT		0.527	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			10	168	0	0	0	1	0	10	168				
MYO15A	51168	broad.mit.edu	37	17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:18023246G>A	ENST00000205890.5	+	2	1470	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	378					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1132-1134)Gtc>Atc		myosin XVA							82.0	90.0	88.0					17																	18023246		1960	4142	6102	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023246G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1132G>A	17.37:g.18023246G>A	ENSP00000205890:p.Val378Ile						p.V378I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1470	+	all_neural(463;0.228)		378			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1132G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131211	0.00338	.	.	ENSG00000091536	ENST00000205890	D	0.88975	-2.45	4.42	-3.11	0.05299	.	.	.	.	.	T	0.72526	0.3471	N	0.11560	0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.57556	-0.7791	9	0.20519	T	0.43	.	5.8961	0.18939	0.2623:0.4007:0.337:0.0	.	378	Q9UKN7	MYO15_HUMAN	I	378	ENSP00000205890:V378I	ENSP00000205890:V378I	V	+	1	0	MYO15A	17963971	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-0.795000	0.04580	-0.403000	0.07622	0.561000	0.74099	GTC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		47	99	0	0	0	1	0	47	99				
WDFY3	23001	broad.mit.edu	37	4	85699758	85699758	+	Silent	SNP	G	G	A	rs146868524		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr4:85699758G>A	ENST00000295888.4	-	27	4823	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	WDFY3_ENST00000322366.6_Silent_p.I1472I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1472					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTAGATGGAGGATGTGGCTGT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15250	0.0		0.0	False		,,,				2504	0.0					ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4414-4416)atC>atT		WD repeat and FYVE domain containing 3		G		1,4405	2.1+/-5.4	0,1,2202	121.0	122.0	122.0		4416	2.7	1.0	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1472/3527	85699758	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85699758G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4416C>T	4.37:g.85699758G>A						WDFY3_ENST00000295888.4_Silent_p.I1472I	p.I1472I			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	27	4823	-		Hepatocellular(203;0.114)	1472					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.4416C>T	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		29	43	0	0	0	1	0	29	43				
EXTL3	2137	broad.mit.edu	37	8	28573786	28573786	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573786G>A	ENST00000220562.4	+	3	1112	c.210G>A	c.(208-210)ggG>ggA	p.G70G	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCGGGTGGGGAACGAGCTGT	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(208-210)ggG>ggA		exostosin-like glycosyltransferase 3							115.0	107.0	110.0					8																	28573786		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573786G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.210G>A	8.37:g.28573786G>A						EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.G70G	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1112	+		Ovarian(32;0.069)	70					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.210G>A	CCDS6070.1																																																																																				0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		24	16	0	0	0	1	0	24	16				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	66	0	0	0	1	0	5	66				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	15	1	0	6.4e-05	1	6.82667e-05	3	15				
HOXD12	3238	broad.mit.edu	37	2	176965063	176965063	+	Silent	SNP	G	G	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:176965063G>A	ENST00000406506.2	+	1	606	c.534G>A	c.(532-534)gcG>gcA	p.A178A	HOXD12_ENST00000404162.2_Silent_p.A178A			P35452	HXD12_HUMAN	homeobox D12	178					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGTGCAGGCGGCGGGCGTTG	0.687																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(532-534)gcG>gcA		homeobox D12							16.0	18.0	17.0					2																	176965063		1823	3940	5763	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965063G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.534G>A	2.37:g.176965063G>A						HOXD12_ENST00000404162.2_Silent_p.A178A	p.A178A			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	606	+			178					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.534G>A	CCDS46456.1																																																																																				0.687	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		12	25	0	0	0	1	0	12	25				
GEMIN5	25929	broad.mit.edu	37	5	154270986	154270986	+	Silent	SNP	G	G	C			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:154270986G>C	ENST00000285873.7	-	26	4152	c.4077C>G	c.(4075-4077)ctC>ctG	p.L1359L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1359					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.L1359L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTGAAAAGAGCTCCTTAA	0.468																																						ENST00000285873.7																			1	Substitution - coding silent(1)	p.L1359L(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4075-4077)ctC>ctG		gem (nuclear organelle) associated protein 5							156.0	153.0	154.0					5																	154270986		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154270986G>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4077C>G	5.37:g.154270986G>C							p.L1359L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		26	4152	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1359					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.4077C>G	CCDS4330.1																																																																																				0.468	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			8	158	0	0	0	1	0	8	158				
OR4K5	79317	broad.mit.edu	37	14	20389698	20389698	+	Silent	SNP	T	T	A			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:20389698T>A	ENST00000315915.4	+	1	958	c.933T>A	c.(931-933)atT>atA	p.I311I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGAGAATTTCTGAAATGT	0.368																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(931-933)atT>atA		olfactory receptor, family 4, subfamily K, member 5							83.0	95.0	91.0					14																	20389698		2202	4300	6502	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389698T>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.933T>A	14.37:g.20389698T>A							p.I311I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	958	+	all_cancers(95;0.00108)		311					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.933T>A	CCDS32024.1																																																																																				0.368	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		36	44	0	0	0	1	0	36	44				
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	lincRNA	DEL	A	A	-	rs71401156	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													|||unknown(HR)	2148	0.428914	0.2731	0.4049	5008	,	,		14255	0.5149		0.4722	False		,,,				2504	0.5235					ENST00000441803.1																			0																																																			0							g.chr2:217475032delA																													2.37:g.217475032delA														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.373	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	5						3	5	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272|rs373986015|rs111816381	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:42204105_42204106insTCC	ENST00000372922.4	-	16	3465_3466	c.2903_2904insGGA	c.(2902-2904)gac>gaGGAc	p.967_968insE	TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000541110.1_In_Frame_Ins_p.987_988insE|TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53														199	0.0397364	0.1392	0.0187	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.002					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2962-2964)gcc>gGGAcc		transcriptional regulating factor 1																																				SO:0001652	inframe_insertion	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42204105_42204106insTCC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2901_2903dupGGA	6.37:g.42204112_42204114dupTCC	ENSP00000362013:p.Glu967_Glu967dup					TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT	p.988_988A>GT			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3531_3532	-	Colorectal(47;0.196)		968			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Ins	INS	ENST00000372922.4	37	c.2963_2964insGGA	CCDS4867.1																																																																																				0.530	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		4	4						4	4	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T	rs202177940		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086381_20086382insT																													14.37:g.20086382_20086382dupT														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	9						4	9	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71445025	71445026	+	Frame_Shift_Del	DEL	AC	AC	-	rs142489415		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:71445025_71445026delAC	ENST00000304743.2	+	6	2417_2418	c.1971_1972delAC	c.(1969-1974)gaacacfs	p.H658fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.H658fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.H658fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	658						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACTCTGAACACACACACAA	0.485																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1969-1974)gaacfs		pecanex homolog (Drosophila)																																				SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71445025_71445026delAC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1971_1972delAC	14.37:g.71445033_71445034delAC	ENSP00000304192:p.His658fs					PCNX_ENST00000439984.3_Frame_Shift_Del_p.EH657fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.EH657fs	p.EH657fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2417_2418	+			657					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1971_1972delAC	CCDS9806.1																																																																																				0.485	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	216						7	216	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		5	6						5	6	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80873662	80873662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr15:80873662delC	ENST00000303329.4	+	17	2000	c.1835delC	c.(1834-1836)tccfs	p.S612fs	ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs|ARNT2_ENST00000533983.1_Frame_Shift_Del_p.S601fs|hsa-mir-5572_ENST00000583188.1_RNA|RP11-379K22.3_ENST00000603875.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	612					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACCCCTCTTCCTACAGCCCC	0.572																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1801-1803)tcfs		aryl-hydrocarbon receptor nuclear translocator 2							92.0	84.0	87.0					15																	80873662		2203	4300	6503	SO:0001589	frameshift_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80873662delC	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1835delC	15.37:g.80873662delC	ENSP00000307479:p.Ser612fs					ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs|ARNT2_ENST00000303329.4_Frame_Shift_Del_p.S612fs	p.S601fs			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2141	+			612					B4DIS7|O15024|Q8IYC2	Frame_Shift_Del	DEL	ENST00000303329.4	37	c.1802delC	CCDS32307.1																																																																																				0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			19	84						19	84	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49982166	49982166	+	Splice_Site	DEL	C	C	-			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:49982166delC	ENST00000594009.1	+	5	422	c.343delC	c.(343-345)ccc>cc	p.P117fs	CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000204637.2_Splice_Site_p.P35fs|FLT3LG_ENST00000600429.1_Splice_Site_p.P117fs|FLT3LG_ENST00000344019.3_Splice_Site_p.P117fs|FLT3LG_ENST00000595510.1_Splice_Site_p.P35fs|FLT3LG_ENST00000597551.1_Splice_Site_p.P117fs|FLT3LG_ENST00000596435.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	117					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGCTCCCAGCCCCCCCCCAG	0.687																																						ENST00000595510.1																			1	Deletion - Frameshift(1)	p.S118fs*24(1)	upper_aerodigestive_tract(1)	large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.e5-1		fms-related tyrosine kinase 3 ligand			,,	113,79,3848		12,0,89,8,63,1848	19.0	17.0	18.0		,,	4.7	1.0	19		18	174,123,7555		19,0,136,5,113,3653	no	codingComplex-near-splice,codingComplex-near-splice,codingComplex-near-splice	FLT3LG	NM_001459.3,NM_001204503.1,NM_001204502.1	,,	31,0,225,13,176,5501	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7825,4.7525,4.112	,,	,,	49982166	287,202,11403	2122	4157	6279	SO:0001630	splice_region_variant	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982166delC	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1C>-	19.37:g.49982166delC						FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice	p.P35_splice			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	398	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	117					A0AVC2|B9EGH2|Q05C96	Splice_Site	DEL	ENST00000594009.1	37	c.96_splice	CCDS12767.1																																																																																				0.687	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Frame_Shift_Del	3	3						3	3	---	---	---	---
