#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
USP20	10868	broad.mit.edu	37	9	132630711	132630711	+	Missense_Mutation	SNP	G	G	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:132630711G>T	ENST00000315480.4	+	11	1276	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	373	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGGTCCTCCAGCCCCTGCCGG	0.682																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1117-1119)aGc>aTc		ubiquitin specific peptidase 20							21.0	24.0	23.0					9																	132630711		1985	4100	6085	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630711G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1118G>T	9.37:g.132630711G>T	ENSP00000313811:p.Ser373Ile					USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I	p.S373I			Q9Y2K6	UBP20_HUMAN			11	1276	+		Ovarian(14;0.00556)	373					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1118G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904683	0.33628	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17054	2.3;2.3;2.3	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.363990	0.01152	N	0.006444	T	0.18341	0.0440	N	0.11201	0.11	0.51767	D	0.999933	P	0.50369	0.934	P	0.47864	0.559	T	0.34601	-0.9822	10	0.16896	T	0.51	.	16.0111	0.80404	0.0:0.0:1.0:0.0	.	373	Q9Y2K6	UBP20_HUMAN	I	373	ENSP00000361506:S373I;ENSP00000313811:S373I;ENSP00000351122:S373I	ENSP00000313811:S373I	S	+	2	0	USP20	131670532	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	6.255000	0.72466	2.459000	0.83118	0.561000	0.74099	AGC		0.682	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			3	43	1	0	1	1	1	3	43				
PRSS3P2	154754	broad.mit.edu	37	7	142479980	142479980	+	RNA	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:142479980C>A	ENST00000603901.1	+	0	112					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGTCCCCTACCAGGTGTCCTT	0.552																																						ENST00000603901.1																			0																				96.0	72.0	79.0					7																	142479980		692	1591	2283			0							g.chr7:142479980C>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479980C>A								NR_001296.3						0	112	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		63	131	1	0	3.63617e-18	1	3.75161e-18	63	131				
KIAA1429	25962	broad.mit.edu	37	8	95507178	95507178	+	Silent	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr8:95507178G>C	ENST00000297591.5	-	20	4626	c.4551C>G	c.(4549-4551)gcC>gcG	p.A1517A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1517					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGCACATAGGCAGTCCTGG	0.368																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4549-4551)gcC>gcG		KIAA1429							114.0	119.0	117.0					8																	95507178		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507178G>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4551C>G	8.37:g.95507178G>C						KIAA1429_ENST00000437199.1_3'UTR	p.A1517A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4626	-	Breast(36;3.29e-05)		1517					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4551C>G	CCDS34923.1																																																																																				0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		7	213	0	0	0	1	0	7	213				
TRIM26	7726	broad.mit.edu	37	6	30164320	30164320	+	Silent	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:30164320C>T	ENST00000454678.2	-	6	1174	c.738G>A	c.(736-738)gcG>gcA	p.A246A	TRIM26_ENST00000437089.1_Silent_p.A246A|TRIM26_ENST00000453195.1_Silent_p.A246A|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	246					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CTGGCTGCTGCGCCTTGCCCT	0.682																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(736-738)gcG>gcA		tripartite motif containing 26							34.0	38.0	36.0					6																	30164320		2195	4286	6481	SO:0001819	synonymous_variant	7726						DNA binding|zinc ion binding	g.chr6:30164320C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.738G>A	6.37:g.30164320C>T						TRIM26_ENST00000437089.1_Silent_p.A246A|TRIM26_ENST00000453195.1_Silent_p.A246A	p.A246A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			6	1174	-			246					A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	c.738G>A	CCDS4678.1																																																																																				0.682	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		33	34	0	0	0	1	0	33	34				
BRSK1	84446	broad.mit.edu	37	19	55805438	55805438	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:55805438G>A	ENST00000309383.1	+	5	789	c.512G>A	c.(511-513)cGc>cAc	p.R171H	BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AACAACATCCGCATTGCAGAC	0.622																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(511-513)cGc>cAc		BR serine/threonine kinase 1							166.0	172.0	170.0					19																	55805438		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805438G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.512G>A	19.37:g.55805438G>A	ENSP00000310649:p.Arg171His					BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	789	+		Renal(1328;0.245)	171			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.512G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	33	5.234175	0.95207	.	.	ENSG00000160469	ENST00000309383	T	0.25414	1.8	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.41096	0.1144	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.975	T	0.35773	-0.9775	10	0.87932	D	0	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	171;187	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	H	171	ENSP00000310649:R171H	ENSP00000310649:R171H	R	+	2	0	BRSK1	60497250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.371000	0.80710	0.561000	0.74099	CGC		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	346	0	0	0	1	0	7	346				
IL1B	3553	broad.mit.edu	37	2	113593795	113593795	+	Silent	SNP	T	T	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:113593795T>C	ENST00000263341.2	-	2	222	c.12A>G	c.(10-12)gtA>gtG	p.V4V	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	4					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	CGAGCTCAGGTACTTCTGCCA	0.473																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(10-12)gtA>gtG		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						106.0	92.0	97.0					2																	113593795		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113593795T>C	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.12A>G	2.37:g.113593795T>C						IL1B_ENST00000491056.1_5'UTR	p.V4V	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			2	222	-			4					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.12A>G	CCDS2102.1																																																																																				0.473	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		41	54	0	0	0	1	0	41	54				
L3MBTL4	91133	broad.mit.edu	37	18	6311576	6311576	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:6311576G>A	ENST00000284898.6	-	3	249	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	17					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGATCCAAACGCTCTTTGGAA	0.478																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(49-51)Cgt>Tgt		l(3)mbt-like 4 (Drosophila)							308.0	275.0	286.0					18																	6311576		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6311576G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.49C>T	18.37:g.6311576G>A	ENSP00000284898:p.Arg17Cys					L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	p.R17C			Q8NA19	LMBL4_HUMAN			3	249	-		Colorectal(10;0.0249)	17					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.49C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	.	13.13	2.146287	0.37923	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14640	2.49;2.49;2.49;2.69	4.8	3.0	0.34707	.	0.914058	0.09169	N	0.839236	T	0.08223	0.0205	N	0.22421	0.69	0.19300	N	0.999972	P	0.48911	0.917	B	0.36418	0.224	T	0.25882	-1.0119	10	0.59425	D	0.04	.	6.0343	0.19697	0.0958:0.0:0.7193:0.1849	.	17	Q8NA19	LMBL4_HUMAN	C	17	ENSP00000382976:R17C;ENSP00000318543:R17C;ENSP00000284898:R17C;ENSP00000382975:R17C	ENSP00000284898:R17C	R	-	1	0	L3MBTL4	6301576	0.011000	0.17503	0.097000	0.21041	0.682000	0.39822	0.988000	0.29616	0.625000	0.30304	-0.228000	0.12330	CGT		0.478	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		18	180	0	0	0	1	0	18	180				
MPRIP	23164	broad.mit.edu	37	17	17075149	17075149	+	Missense_Mutation	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:17075149C>G	ENST00000341712.4	+	16	2281	c.2281C>G	c.(2281-2283)Cta>Gta	p.L761V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.L761V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	761	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACCGCCTCCTAGCCGAGGA	0.557																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2281-2283)Cta>Gta		myosin phosphatase Rho interacting protein							50.0	57.0	55.0					17																	17075149		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17075149C>G	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2281C>G	17.37:g.17075149C>G	ENSP00000342379:p.Leu761Val					MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V	p.L761V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			16	2370	+			761			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2281C>G	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.073119|4.073119	0.76415|0.76415	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000313485	T;T;T;T|.	0.34072|.	1.38;1.69;1.65;1.65|.	5.79|5.79	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.81497|0.81497	2.545|2.545	0.40362|0.40362	D|D	0.979258|0.979258	D;D;D|.	0.89917|.	1.0;0.999;0.997|.	D;D;D|.	0.91635|.	0.999;0.991;0.991|.	T|T	0.78770|0.78770	-0.2074|-0.2074	10|5	0.56958|.	D|.	0.05|.	-8.5622|-8.5622	15.7416|15.7416	0.77901|0.77901	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	1125;761;761|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;MPRIP_HUMAN|.	V|R	723;761;761;761|1125	ENSP00000400189:L723V;ENSP00000379156:L761V;ENSP00000379149:L761V;ENSP00000342379:L761V|.	ENSP00000342379:L761V|.	L|P	+|+	1|2	2|0	MPRIP|MPRIP	17015874|17015874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	2.650000|2.650000	0.46665|0.46665	2.743000|2.743000	0.94032|0.94032	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.557	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		21	31	0	0	0	1	0	21	31				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	49	0	0	0	1	0	4	49				
PCDH18	54510	broad.mit.edu	37	4	138453022	138453022	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:138453022G>A	ENST00000344876.4	-	1	607	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTAGAGGAGAATTTCCCCT	0.428																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(220-222)tCt>tTt		protocadherin 18							148.0	145.0	146.0					4																	138453022		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138453022G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.221C>T	4.37:g.138453022G>A	ENSP00000355082:p.Ser74Phe					PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F	p.S74F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	607	-	all_hematologic(180;0.24)		74			Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.221C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918376	0.52546	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.28454	1.61;1.61	5.56	4.72	0.59763	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.349077	0.20667	U	0.087915	T	0.46092	0.1375	M	0.64997	1.995	0.80722	D	1	P;P	0.42203	0.659;0.773	P;P	0.52267	0.694;0.678	T	0.43048	-0.9415	10	0.59425	D	0.04	.	14.1569	0.65424	0.0716:0.0:0.9284:0.0	.	74;74	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	F	74	ENSP00000355082:S74F;ENSP00000390688:S74F	ENSP00000355082:S74F	S	-	2	0	PCDH18	138672472	1.000000	0.71417	0.681000	0.30009	0.064000	0.16182	2.381000	0.44336	1.351000	0.45789	0.555000	0.69702	TCT		0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	146	0	0	0	1	0	4	146				
INO80B	83444	broad.mit.edu	37	2	74683262	74683262	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:74683262C>T	ENST00000233331.7	+	4	497	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000409737.1_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.R135W|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	135					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CTCTCCACTTCGGGACCTATC	0.512																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(403-405)Cgg>Tgg		INO80 complex subunit B							71.0	72.0	72.0					2																	74683262		2203	4300	6503	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74683262C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.403C>T	2.37:g.74683262C>T	ENSP00000233331:p.Arg135Trp					INO80B_ENST00000409917.1_Missense_Mutation_p.R135W|INO80B_ENST00000469849.1_3'UTR	p.R135W	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			4	497	+			135						Missense_Mutation	SNP	ENST00000233331.7	37	c.403C>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509316	0.64522	.	.	ENSG00000115274	ENST00000233331;ENST00000409917;ENST00000409493	T;T;T	0.49139	0.79;0.8;0.81	5.66	4.74	0.60224	.	0.239066	0.43416	D	0.000564	T	0.37320	0.0999	N	0.22421	0.69	0.34574	D	0.71369	D;D;D	0.60575	0.978;0.988;0.963	B;B;P	0.44561	0.306;0.265;0.453	T	0.55250	-0.8170	10	0.66056	D	0.02	-15.0767	13.4108	0.60942	0.0:0.8285:0.1715:0.0	.	153;135;135	B4DJ31;Q9C086;B8ZZ93	.;IN80B_HUMAN;.	W	135;135;140	ENSP00000233331:R135W;ENSP00000387267:R135W;ENSP00000386937:R140W	ENSP00000233331:R135W	R	+	1	2	INO80B	74536770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.061000	0.64319	2.670000	0.90874	0.561000	0.74099	CGG		0.512	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		33	39	0	0	0	1	0	33	39				
CDH12	1010	broad.mit.edu	37	5	21802288	21802288	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:21802288C>T	ENST00000382254.1	-	10	2330	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACAGCACTGCTGCCTACATC	0.433										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1243-1245)aGc>aAc		cadherin 12, type 2 (N-cadherin 2)							84.0	66.0	72.0					5																	21802288		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802288C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1244G>A	5.37:g.21802288C>T	ENSP00000371689:p.Ser415Asn	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N	p.S415N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			10	2330	-			415			Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1244G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119804	0.08881	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.37235	1.21;1.21;1.21	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.162599	0.64402	D	0.000003	T	0.16342	0.0393	N	0.03294	-0.36	0.42174	D	0.991652	B;B	0.12013	0.001;0.005	B;B	0.14578	0.009;0.011	T	0.12344	-1.0551	10	0.02654	T	1	.	15.5979	0.76602	0.0:0.8631:0.1369:0.0	.	375;415	B7Z2U6;P55289	.;CAD12_HUMAN	N	415;415;375	ENSP00000423577:S415N;ENSP00000371689:S415N;ENSP00000428786:S375N	ENSP00000371689:S415N	S	-	2	0	CDH12	21838045	0.995000	0.38212	0.976000	0.42696	0.916000	0.54674	1.463000	0.35277	2.765000	0.95021	0.655000	0.94253	AGC		0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		39	32	0	0	0	1	0	39	32				
CDK5RAP3	80279	broad.mit.edu	37	17	46054119	46054119	+	Silent	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:46054119G>A	ENST00000338399.4	+	9	946	c.840G>A	c.(838-840)ggG>ggA	p.G280G	CDK5RAP3_ENST00000536708.2_Silent_p.G305G|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	280					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGTCTGAGGGGACTGACTCTG	0.537																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(913-915)ggG>ggA		CDK5 regulatory subunit associated protein 3							75.0	74.0	74.0					17																	46054119		1949	4138	6087	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46054119G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.840G>A	17.37:g.46054119G>A						CDK5RAP3_ENST00000338399.4_Silent_p.G280G	p.G305G	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			9	1024	+			280					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.915G>A	CCDS42356.1																																																																																				0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		30	7	0	0	0	1	0	30	7				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	104	0	0	0	1	0	6	104				
PCNX	22990	broad.mit.edu	37	14	71555961	71555961	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:71555961C>T	ENST00000304743.2	+	30	5937	c.5491C>T	c.(5491-5493)Cgt>Tgt	p.R1831C	PCNX_ENST00000439984.3_Missense_Mutation_p.R1720C|PCNX_ENST00000238570.5_Missense_Mutation_p.R1759C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1831						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)		AGGAGATTTCCGTATTTCTTC	0.373																																						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.(5491-5493)Cgt>Tgt		pecanex homolog (Drosophila)							193.0	179.0	183.0					14																	71555961		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71555961C>T	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.5491C>T	14.37:g.71555961C>T	ENSP00000304192:p.Arg1831Cys					PCNX_ENST00000238570.5_Missense_Mutation_p.R1759C|PCNX_ENST00000439984.3_Missense_Mutation_p.R1720C	p.R1831C	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)	30	5937	+			1831					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5491C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339000	0.95783	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.51325	0.71;0.71;0.71	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.80251	-0.1460	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1759;1720;1831	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	C	1831;1759;1720	ENSP00000304192:R1831C;ENSP00000238570:R1759C;ENSP00000396617:R1720C	ENSP00000238570:R1759C	R	+	1	0	PCNX	70625714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.727000	0.68523	2.885000	0.99019	0.655000	0.94253	CGT		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		45	53	0	0	0	1	0	45	53				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	80	0	0	0	1	0	3	80				
COL5A2	1290	broad.mit.edu	37	2	189899824	189899824	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:189899824G>A	ENST00000374866.3	-	53	4445	c.4171C>T	c.(4171-4173)Cgc>Tgc	p.R1391C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1391	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1391C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATAAAAGGCGCAAAAAAGTC	0.398																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.R1391C(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(4171-4173)Cgc>Tgc		collagen, type V, alpha 2							103.0	101.0	102.0					2																	189899824		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899824G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4171C>T	2.37:g.189899824G>A	ENSP00000364000:p.Arg1391Cys						p.R1391C	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4445	-			1391			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4171C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327699	0.81690	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.78707	-1.2	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.000000	0.49305	D	0.000155	D	0.91938	0.7447	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93502	0.6845	10	0.72032	D	0.01	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	1031;1391	Q5PR22;P05997	.;CO5A2_HUMAN	C	1391;1031	ENSP00000364000:R1391C	ENSP00000364000:R1391C	R	-	1	0	COL5A2	189608069	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.658000	0.90341	0.650000	0.86243	CGC		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	124	0	0	0	1	0	4	124				
KRT27	342574	broad.mit.edu	37	17	38936652	38936652	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:38936652C>T	ENST00000301656.3	-	3	624	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.R195Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGGACTCTTCGCAAACCATT	0.478																																						ENST00000301656.3																			1	Substitution - Missense(1)	p.R195Q(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(583-585)cGa>cAa		keratin 27							86.0	74.0	78.0					17																	38936652		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936652C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.584G>A	17.37:g.38936652C>T	ENSP00000301656:p.Arg195Gln						p.R195Q	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			3	624	-		Breast(137;0.000812)	195			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.584G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199105	0.79015	.	.	ENSG00000171446	ENST00000301656	D	0.92099	-2.97	5.5	4.53	0.55603	Filament (1);	0.000000	0.64402	D	0.000012	D	0.96153	0.8746	M	0.86573	2.825	0.37185	D	0.903669	D	0.76494	0.999	D	0.75020	0.985	D	0.98541	1.0632	10	0.87932	D	0	.	13.9161	0.63899	0.0:0.9262:0.0:0.0738	.	195	Q7Z3Y8	K1C27_HUMAN	Q	195	ENSP00000301656:R195Q	ENSP00000301656:R195Q	R	-	2	0	KRT27	36190178	0.298000	0.24417	0.981000	0.43875	0.728000	0.41692	0.974000	0.29436	1.456000	0.47831	0.655000	0.94253	CGA		0.478	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		12	31	0	0	0	1	0	12	31				
FBXL14	144699	broad.mit.edu	37	12	1702154	1702154	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:1702154C>T	ENST00000339235.3	-	1	1177	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	FBXL14_ENST00000543278.1_5'UTR|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CAGGTCTATGCCGGTGAGTTG	0.627																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(1078-1080)gGc>gAc		F-box and leucine-rich repeat protein 14							130.0	112.0	118.0					12																	1702154		2203	4300	6503	SO:0001583	missense	144699					cytoplasm		g.chr12:1702154C>T	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1079G>A	12.37:g.1702154C>T	ENSP00000344855:p.Gly360Asp					FBXL14_ENST00000543278.1_5'UTR|WNT5B_ENST00000537031.1_Intron	p.G360D	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	1177	-	Ovarian(42;0.107)		360						Missense_Mutation	SNP	ENST00000339235.3	37	c.1079G>A	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160134	0.38119	.	.	ENSG00000171823	ENST00000339235	T	0.02369	4.32	4.85	3.95	0.45737	.	0.060642	0.64402	D	0.000002	T	0.01695	0.0054	N	0.04686	-0.185	0.58432	D	0.999999	P	0.39282	0.666	B	0.35859	0.212	T	0.66135	-0.5999	10	0.13108	T	0.6	.	14.5131	0.67802	0.1479:0.8521:0.0:0.0	.	360	Q8N1E6	FXL14_HUMAN	D	360	ENSP00000344855:G360D	ENSP00000344855:G360D	G	-	2	0	FBXL14	1572415	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.586000	0.82596	1.222000	0.43521	0.650000	0.86243	GGC		0.627	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	149	0	0	0	1	0	4	149				
GRIN2B	2904	broad.mit.edu	37	12	13716213	13716213	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:13716213C>T	ENST00000609686.1	-	13	4168	c.3959G>A	c.(3958-3960)cGc>cAc	p.R1320H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1320					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTACGCTGCGCGGGGCCAG	0.582																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3958-3960)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						68.0	75.0	73.0					12																	13716213		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716213C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3959G>A	12.37:g.13716213C>T	ENSP00000477455:p.Arg1320His						p.R1320H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4168	-			1320					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3959G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956710	0.73902	.	.	ENSG00000150086	ENST00000279593	T	0.45276	0.9	4.81	4.81	0.61882	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66748	-0.5845	10	0.87932	D	0	.	18.436	0.90646	0.0:1.0:0.0:0.0	.	1320	Q13224	NMDE2_HUMAN	H	1320	ENSP00000279593:R1320H	ENSP00000279593:R1320H	R	-	2	0	GRIN2B	13607480	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.273000	0.78527	2.637000	0.89404	0.563000	0.77884	CGC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			49	48	0	0	0	1	0	49	48				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	23	0	0	0	1	0	3	23				
PSMB11	122706	broad.mit.edu	37	14	23511486	23511486	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:23511486T>A	ENST00000408907.2	+	1	111	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGGACCATCACCTCACCT	0.622																																						ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(52-54)Tca>Aca		proteasome (prosome, macropain) subunit, beta type, 11							76.0	87.0	83.0					14																	23511486		2094	4218	6312	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511486T>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.52T>A	14.37:g.23511486T>A	ENSP00000386212:p.Ser18Thr						p.S18T	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	111	+	all_cancers(95;3.3e-05)		18						Missense_Mutation	SNP	ENST00000408907.2	37	c.52T>A	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	T	8.718	0.913762	0.17907	.	.	ENSG00000222028	ENST00000408907	T	0.28454	1.61	4.61	2.23	0.28157	.	1.144360	0.06705	N	0.772145	T	0.20210	0.0486	L	0.40543	1.245	0.09310	N	1	B	0.31318	0.319	B	0.24155	0.051	T	0.25047	-1.0143	10	0.15066	T	0.55	-0.3926	4.0328	0.09716	0.0:0.1078:0.2166:0.6756	.	18	A5LHX3	PSB11_HUMAN	T	18	ENSP00000386212:S18T	ENSP00000386212:S18T	S	+	1	0	PSMB11	22581326	0.000000	0.05858	0.002000	0.10522	0.717000	0.41224	0.094000	0.15107	0.838000	0.34948	0.533000	0.62120	TCA		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		55	75	0	0	0	1	0	55	75				
PIEZO2	63895	broad.mit.edu	37	18	10691245	10691245	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:10691245C>T	ENST00000503781.3	-	44	6987	c.6988G>A	c.(6988-6990)Gtc>Atc	p.V2330I	PIEZO2_ENST00000302079.6_Missense_Mutation_p.V2330I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2330					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.V2330I(1)|p.V185I(1)									AAGAGGTTGACGTAATTGTAG	0.488																																						ENST00000302079.6																			2	Substitution - Missense(2)	p.V2330I(1)|p.V185I(1)	prostate(2)								c.(6988-6990)Gtc>Atc		piezo-type mechanosensitive ion channel component 2							140.0	123.0	128.0					18																	10691245		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10691245C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6988G>A	18.37:g.10691245C>T	ENSP00000421377:p.Val2330Ile					PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2330I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I	p.V2330I			Q9H5I5	PIEZ2_HUMAN			44	6987	-			2330					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6988G>A		.	.	.	.	.	.	.	.	.	.	C	11.75	1.731604	0.30684	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.72942	-0.7;-0.7;-0.68	5.62	4.74	0.60224	.	0.087086	0.47852	D	0.000208	T	0.44808	0.1311	N	0.02721	-0.515	0.41431	D	0.987869	B	0.24533	0.105	B	0.21151	0.033	T	0.43621	-0.9380	10	0.15952	T	0.53	.	14.3048	0.66377	0.0:0.9287:0.0:0.0713	.	287	D6RFZ0	.	I	287;2330;287;185	ENSP00000303316:V2330I;ENSP00000443129:V287I;ENSP00000285141:V185I	ENSP00000285141:V185I	V	-	1	0	FAM38B	10681245	0.999000	0.42202	0.994000	0.49952	0.983000	0.72400	4.012000	0.57131	2.804000	0.96469	0.655000	0.94253	GTC		0.488	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		43	28	0	0	0	1	0	43	28				
MDM4	4194	broad.mit.edu	37	1	204501935	204501935	+	Intron	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:204501935G>C	ENST00000367182.3	+	5	505				MDM4_ENST00000367180.1_Missense_Mutation_p.E128Q|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator						cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ccacgctctagagttggcaga	0.313			A		"""GBM, bladder, retinoblastoma"""																																	ENST00000367180.1				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"""GBM, bladder, retinoblastoma"""		0				central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(382-384)Gag>Cag		Mdm4 p53 binding protein homolog (mouse)							138.0	141.0	140.0					1																	204501935		876	1991	2867	SO:0001627	intron_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204501935G>C	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.343+561G>C	1.37:g.204501935G>C						MDM4_ENST00000463049.1_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000367182.3_Intron	p.E128Q			O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		5	411	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		0					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.382G>C	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	G	3.800	-0.041862	0.07452	.	.	ENSG00000198625	ENST00000367180	.	.	.	3.62	1.71	0.24356	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33548	-0.9864	5	0.62326	D	0.03	.	6.0051	0.19541	0.2409:0.0:0.7591:0.0	.	.	.	.	Q	128	.	ENSP00000356148:E128Q	E	+	1	0	MDM4	202768558	0.002000	0.14202	0.033000	0.17914	0.079000	0.17450	0.338000	0.19858	0.506000	0.28125	0.655000	0.94253	GAG		0.313	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		44	68	0	0	0	1	0	44	68				
THSD7B	80731	broad.mit.edu	37	2	138413129	138413129	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:138413129G>A	ENST00000409968.1	+	22	4182	c.4004G>A	c.(4003-4005)gGt>gAt	p.G1335D	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1337	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCACAGTGGTTCAATATCT	0.502																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4003-4005)gGt>gAt		thrombospondin, type I, domain containing 7B							93.0	93.0	93.0					2																	138413129		2091	4230	6321	SO:0001583	missense	80731							g.chr2:138413129G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4004G>A	2.37:g.138413129G>A	ENSP00000387145:p.Gly1335Asp					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D	p.G1335D						BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4182	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4004G>A		.	.	.	.	.	.	.	.	.	.	G	14.88	2.667190	0.47677	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61510	0.1;0.1;0.1	5.26	3.34	0.38264	.	0.229429	0.44285	D	0.000468	T	0.68778	0.3038	L	0.61218	1.895	0.80722	D	1	D	0.62365	0.991	P	0.61070	0.883	T	0.69694	-0.5076	10	0.35671	T	0.21	.	15.3785	0.74633	0.0:0.4025:0.5975:0.0	.	1307	C9JKN6	.	D	1335;1338;1307	ENSP00000387145:G1335D;ENSP00000272643:G1338D;ENSP00000413841:G1307D	ENSP00000272643:G1338D	G	+	2	0	THSD7B	138129599	1.000000	0.71417	0.768000	0.31515	0.276000	0.26787	3.222000	0.51223	1.407000	0.46875	0.650000	0.86243	GGT		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		9	15	0	0	0	1	0	9	15				
NUMA1	4926	broad.mit.edu	37	11	71718448	71718448	+	Silent	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:71718448G>A	ENST00000393695.3	-	21	5581	c.5250C>T	c.(5248-5250)agC>agT	p.S1750S	NUMA1_ENST00000358965.6_Silent_p.S1736S|NUMA1_ENST00000351960.6_Silent_p.S614S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCCAGGGACGCTGGTGCCGT	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5248-5250)agC>agT		nuclear mitotic apparatus protein 1							42.0	43.0	42.0					11																	71718448		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71718448G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5250C>T	11.37:g.71718448G>A						NUMA1_ENST00000351960.6_Silent_p.S614S|NUMA1_ENST00000358965.6_Silent_p.S1736S	p.S1750S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			21	5581	-			1750						Silent	SNP	ENST00000393695.3	37	c.5250C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.883065	0.17467	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.58	-2.45	0.06481	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	.	9.8051	0.40789	0.5604:0.0:0.4396:0.0	.	.	.	.	V	599	.	.	A	-	2	0	NUMA1	71396096	0.001000	0.12720	0.768000	0.31515	0.909000	0.53808	-0.675000	0.05227	-0.566000	0.06054	-0.993000	0.02533	GCG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			3	29	0	0	0	1	0	3	29				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	64	0	0	0	1	0	4	64				
TLR8	51311	broad.mit.edu	37	X	12939510	12939510	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chrX:12939510G>A	ENST00000218032.6	+	2	2438	c.2351G>A	c.(2350-2352)cGa>cAa	p.R784Q	TLR8_ENST00000311912.5_Missense_Mutation_p.R802Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	784	LRRCT.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGAGATTTCCGAAGATGGATG	0.433																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2350-2352)cGa>cAa		toll-like receptor 8							112.0	96.0	101.0					X																	12939510		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939510G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2351G>A	X.37:g.12939510G>A	ENSP00000218032:p.Arg784Gln					TLR8_ENST00000311912.5_Missense_Mutation_p.R802Q	p.R784Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2438	+			784			LRRCT.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2351G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736943	0.69304	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34859	1.34;1.52	5.97	3.25	0.37280	Cysteine-rich flanking region, C-terminal (1);	0.248184	0.21042	N	0.081148	T	0.47414	0.1444	M	0.71581	2.175	0.23827	N	0.996737	D;D	0.76494	0.999;0.999	P;P	0.56563	0.801;0.801	T	0.40553	-0.9557	10	0.72032	D	0.01	.	5.8591	0.18736	0.1534:0.0:0.4269:0.4197	.	784;802	Q9NR97;D1CS70	TLR8_HUMAN;.	Q	784;802	ENSP00000218032:R784Q;ENSP00000312082:R802Q	ENSP00000218032:R784Q	R	+	2	0	TLR8	12849431	0.017000	0.18338	0.211000	0.23655	0.959000	0.62525	1.465000	0.35299	0.269000	0.21961	0.600000	0.82982	CGA		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		13	74	0	0	0	1	0	13	74				
ATP13A3	79572	broad.mit.edu	37	3	194146084	194146084	+	Silent	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:194146084A>G	ENST00000439040.1	-	30	4091	c.3300T>C	c.(3298-3300)ccT>ccC	p.P1100P	ATP13A3_ENST00000256031.4_Silent_p.P1100P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTGTAGCAAGGTTGCCTGA	0.338																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3298-3300)ccT>ccC		ATPase type 13A3							94.0	88.0	90.0					3																	194146084		1828	4077	5905	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194146084A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3300T>C	3.37:g.194146084A>G						ATP13A3_ENST00000256031.4_Silent_p.P1100P	p.P1100P			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	30	4091	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1100					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3300T>C	CCDS43187.1																																																																																				0.338	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		20	43	0	0	0	1	0	20	43				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	111	0	0	0	1	0	4	111				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	111	0	0	0	1	0	4	111				
ADCY1	107	broad.mit.edu	37	7	45717555	45717555	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:45717555G>A	ENST00000297323.7	+	9	1715	c.1693G>A	c.(1693-1695)Gtc>Atc	p.V565I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	565					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCACTCGCGTCAACAGGTA	0.527																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1693-1695)Gtc>Atc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						76.0	85.0	82.0					7																	45717555		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717555G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1693G>A	7.37:g.45717555G>A	ENSP00000297323:p.Val565Ile						p.V565I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			9	1715	+			565					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1693G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309565	0.95629	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.81659	-1.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.63843	1.955	0.80722	D	1	P	0.47484	0.896	B	0.43809	0.432	T	0.79179	-0.1910	10	0.30078	T	0.28	.	16.3318	0.83023	0.0:0.0:1.0:0.0	.	565	Q08828	ADCY1_HUMAN	I	565	ENSP00000297323:V565I	ENSP00000297323:V565I	V	+	1	0	ADCY1	45684080	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	9.260000	0.95568	2.445000	0.82738	0.655000	0.94253	GTC		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	112	0	0	0	1	0	4	112				
NAV3	89795	broad.mit.edu	37	12	78415542	78415542	+	Missense_Mutation	SNP	T	T	A	rs200251820	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:78415542T>A	ENST00000397909.2	+	9	2096	c.1923T>A	c.(1921-1923)aaT>aaA	p.N641K	NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	641						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCAGAAAATGAAGGTACCG	0.388										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1921-1923)aaT>aaA		neuron navigator 3							100.0	100.0	100.0					12																	78415542		1986	4183	6169	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415542T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1923T>A	12.37:g.78415542T>A	ENSP00000381007:p.Asn641Lys	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K	p.N641K			Q8IVL0	NAV3_HUMAN			9	2096	+			641					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1923T>A		.	.	.	.	.	.	.	.	.	.	T	17.32	3.359343	0.61403	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.46	5.46	0.80206	.	0.000000	0.42821	U	0.000655	T	0.15305	0.0369	L	0.46157	1.445	0.80722	D	1	D;P	0.53151	0.958;0.59	B;B	0.42692	0.395;0.187	T	0.04678	-1.0934	10	0.25751	T	0.34	-15.8882	15.5544	0.76180	0.0:0.0:0.0:1.0	.	641;641	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	641	ENSP00000446628:N641K;ENSP00000446132:N641K;ENSP00000381007:N641K;ENSP00000228327:N641K;ENSP00000266692:N641K	ENSP00000228327:N641K	N	+	3	2	NAV3	76939673	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.128000	0.50492	2.083000	0.62718	0.533000	0.62120	AAT		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	91	0	0	0	1	0	4	91				
GRID2	2895	broad.mit.edu	37	4	94316827	94316827	+	Missense_Mutation	SNP	C	C	T	rs200889267		TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:94316827C>T	ENST00000282020.4	+	9	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	GRID2_ENST00000510992.1_Missense_Mutation_p.R344C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	439					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAATAACATGCGTGGAGTGGT	0.393																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1315-1317)Cgt>Tgt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						219.0	209.0	212.0					4																	94316827		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94316827C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1315C>T	4.37:g.94316827C>T	ENSP00000282020:p.Arg439Cys					GRID2_ENST00000510992.1_Missense_Mutation_p.R344C	p.R439C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	9	1573	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	439					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1315C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019981	0.75275	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15372	2.47;2.43	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.03493	-1.1031	10	0.62326	D	0.03	.	15.2754	0.73737	0.1401:0.8599:0.0:0.0	.	344;439	E9PH24;O43424	.;GRID2_HUMAN	C	439;344	ENSP00000282020:R439C;ENSP00000421257:R344C	ENSP00000282020:R439C	R	+	1	0	GRID2	94535850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.910000	0.48766	2.857000	0.98124	0.650000	0.86243	CGT		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			49	66	0	0	0	1	0	49	66				
TAS1R2	80834	broad.mit.edu	37	1	19166493	19166493	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:19166493C>T	ENST00000375371.3	-	6	2141	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	707					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R707H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGGTCAGTACGGGTGGTGGG	0.557																																						ENST00000375371.3																			1	Substitution - Missense(1)	p.R707H(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2119-2121)cGt>cAt		taste receptor, type 1, member 2	Aspartame(DB00168)						128.0	135.0	133.0					1																	19166493		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166493C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2120G>A	1.37:g.19166493C>T	ENSP00000364520:p.Arg707His						p.R707H	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2141	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	707					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2120G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617457	0.14129	.	.	ENSG00000179002	ENST00000375371	D	0.88664	-2.41	4.94	0.504	0.16946	GPCR, family 3, C-terminal (2);	0.155508	0.29707	N	0.011419	T	0.79805	0.4509	L	0.35288	1.05	0.09310	N	0.999999	B	0.21520	0.057	B	0.22601	0.04	T	0.68838	-0.5303	10	0.59425	D	0.04	.	5.422	0.16405	0.2923:0.5531:0.0:0.1546	.	707	Q8TE23	TS1R2_HUMAN	H	707	ENSP00000364520:R707H	ENSP00000364520:R707H	R	-	2	0	TAS1R2	19039080	0.000000	0.05858	0.133000	0.22050	0.119000	0.20118	0.205000	0.17356	0.095000	0.17434	0.561000	0.74099	CGT		0.557	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			20	97	0	0	0	1	0	20	97				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	62	0	0	0	1	0	3	62				
SCN10A	6336	broad.mit.edu	37	3	38763822	38763822	+	Missense_Mutation	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:38763822C>A	ENST00000449082.2	-	19	3433	c.3434G>T	c.(3433-3435)tGc>tTc	p.C1145F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1145					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATACGGTAGCAAGTCTTGCG	0.567																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3433-3435)tGc>tTc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167.0	137.0	148.0					3																	38763822		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763822C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3434G>T	3.37:g.38763822C>A	ENSP00000390600:p.Cys1145Phe						p.C1145F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3433	-			1145					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3434G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290289	0.80914	.	.	ENSG00000185313	ENST00000449082	D	0.88586	-2.4	4.27	4.27	0.50696	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	M	0.87617	2.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.96021	0.9009	10	0.87932	D	0	.	16.8955	0.86099	0.0:1.0:0.0:0.0	.	1145	Q9Y5Y9	SCNAA_HUMAN	F	1145	ENSP00000390600:C1145F	ENSP00000390600:C1145F	C	-	2	0	SCN10A	38738826	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.651000	0.83577	2.221000	0.72209	0.561000	0.74099	TGC		0.567	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		43	57	1	0	3.43241e-23	1	3.5985e-23	43	57				
TWF1	5756	broad.mit.edu	37	12	44190803	44190803	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:44190803T>A	ENST00000395510.2	-	8	987	c.858A>T	c.(856-858)caA>caT	p.Q286H	TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	286	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCATTTGTAGTTGTCTTTCTA	0.338																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(856-858)caA>caT		twinfilin actin-binding protein 1							81.0	86.0	84.0					12																	44190803		2203	4299	6502	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44190803T>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.858A>T	12.37:g.44190803T>A	ENSP00000378886:p.Gln286His					TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	p.Q286H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	8	987	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.858A>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455211	0.26161	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.32515	1.45;2.2;2.19;2.2	5.55	1.81	0.25067	Actin-binding, cofilin/tropomyosin type (3);	0.604283	0.18655	N	0.134881	T	0.19087	0.0458	N	0.12746	0.255	0.38505	D	0.948326	B;B	0.30114	0.227;0.269	B;B	0.37267	0.245;0.194	T	0.10753	-1.0616	10	0.35671	T	0.21	-21.4054	9.3144	0.37926	0.0:0.3823:0.0:0.6177	.	293;286	Q12792-3;Q12792	.;TWF1_HUMAN	H	188;286;320;293	ENSP00000448750:Q188H;ENSP00000378886:Q286H;ENSP00000321058:Q320H;ENSP00000449428:Q293H	ENSP00000321058:Q320H	Q	-	3	2	TWF1	42477070	0.005000	0.15991	0.999000	0.59377	0.994000	0.84299	-1.188000	0.03064	0.069000	0.16605	0.482000	0.46254	CAA		0.338	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		31	36	0	0	0	1	0	31	36				
PC	5091	broad.mit.edu	37	11	66620019	66620019	+	Silent	SNP	G	G	A	rs577570512	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:66620019G>A	ENST00000393958.2	-	14	1809	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	572	Carboxyltransferase.|Substrate binding.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D572D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTGGTGGGCGTCCCTGAAGG	0.602													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16892	0.0		0.0	False		,,,				2504	0.0					ENST00000393960.1																			1	Substitution - coding silent(1)	p.D572D(1)	lung(1)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1714-1716)gaC>gaT		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						64.0	63.0	63.0					11																	66620019		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620019G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1716C>T	11.37:g.66620019G>A						PC_ENST00000393958.2_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D	p.D572D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	1997	-		Melanoma(852;0.0525)	572			Carboxyltransferase.|Substrate binding.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.1716C>T	CCDS8152.1																																																																																				0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		8	87	0	0	0	1	0	8	87				
FNDC1	84624	broad.mit.edu	37	6	159653389	159653389	+	Silent	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:159653389G>A	ENST00000297267.9	+	11	2045	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	FNDC1_ENST00000340366.6_Silent_p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	615					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCCCCCCTCGGCTTCGGCCT	0.677																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1843-1845)tcG>tcA		fibronectin type III domain containing 1							22.0	26.0	25.0					6																	159653389		1992	4148	6140	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653389G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1845G>A	6.37:g.159653389G>A						FNDC1_ENST00000340366.6_Silent_p.S552S	p.S615S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2045	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	615					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1845G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234877	0.05983	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05649	-1.0872	4	.	.	.	0.6215	2.3538	0.04291	0.4469:0.0804:0.2478:0.2249	.	.	.	.	S	511	.	.	G	+	1	0	FNDC1	159573379	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.683000	0.00394	-5.679000	0.00010	-2.805000	0.00112	GGC		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		24	46	0	0	0	1	0	24	46				
PCSK2	5126	broad.mit.edu	37	20	17462324	17462324	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:17462324C>T	ENST00000262545.2	+	12	1841	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	509					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATGTCCAGGCTGTCATCACG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1525-1527)gCt>gTt		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						125.0	99.0	108.0					20																	17462324		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462324C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1526C>T	20.37:g.17462324C>T	ENSP00000262545:p.Ala509Val					PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V|PCSK2_ENST00000459871.1_3'UTR	p.A509V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1841	+			509					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1526C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256494	0.80246	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.56941	0.43;0.43;0.43	5.93	5.93	0.95920	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.28400	0.85	0.80722	D	1	D;D;P	0.89917	0.997;1.0;0.574	P;D;B	0.72625	0.904;0.978;0.093	T	0.53549	-0.8423	10	0.22109	T	0.4	-18.7329	18.9036	0.92452	0.0:1.0:0.0:0.0	.	474;490;509	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	V	490;509;474	ENSP00000367131:A490V;ENSP00000262545:A509V;ENSP00000437458:A474V	ENSP00000262545:A509V	A	+	2	0	PCSK2	17410324	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.060000	0.71141	2.803000	0.96430	0.585000	0.79938	GCT		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		16	30	0	0	0	1	0	16	30				
CTSC	1075	broad.mit.edu	37	11	88068157	88068157	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:88068157T>A	ENST00000227266.5	-	2	380	c.266A>T	c.(265-267)aAc>aTc	p.N89I	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000524463.1_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	89					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCCTTGGTTGTAAATGAT	0.363																																						ENST00000524463.1																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(265-267)aAc>aTc		cathepsin C							131.0	121.0	125.0					11																	88068157		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88068157T>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.266A>T	11.37:g.88068157T>A	ENSP00000227266:p.Asn89Ile					CTSC_ENST00000227266.5_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR	p.N89I	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN			2	354	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	89					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.266A>T	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.870067|4.870067	0.91587|0.91587	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974|ENST00000527018	D;D;D|.	0.92249|.	-3.0;-3.0;-3.0|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Cathepsin C exclusion (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78188|0.78188	0.4244|0.4244	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.87578|.	0.996;0.982;0.998|.	T|T	0.80522|0.80522	-0.1345|-0.1345	9|5	.|.	.|.	.|.	.|.	13.7534|13.7534	0.62921|0.62921	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	89;89;89|.	Q2HIY8;P53634-2;P53634|.	.;.;CATC_HUMAN|.	I|S	72;89;89;89|46	ENSP00000227266:N89I;ENSP00000432541:N89I;ENSP00000433539:N89I|.	.|.	N|T	-|-	2|1	0|0	CTSC|CTSC	87707805|87707805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.097000|7.097000	0.76967|0.76967	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.363	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		29	31	0	0	0	1	0	29	31				
PPP1R14C	81706	broad.mit.edu	37	6	150569907	150569907	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:150569907G>A	ENST00000361131.4	+	4	566	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	150					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R150Q(1)		endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CTGCTTTCTCGGATAAGAGGC	0.393																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			1	Substitution - Missense(1)	p.R150Q(1)	prostate(1)	endometrium(1)|large_intestine(1)|prostate(1)	3						c.(448-450)cGg>cAg		protein phosphatase 1, regulatory (inhibitor) subunit 14C							61.0	63.0	63.0					6																	150569907		2203	4300	6503	SO:0001583	missense	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150569907G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.449G>A	6.37:g.150569907G>A	ENSP00000355260:p.Arg150Gln						p.R150Q	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	4	566	+		Ovarian(120;0.0284)	150					Q5VY83|Q96BB1|Q9H277	Missense_Mutation	SNP	ENST00000361131.4	37	c.449G>A	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058326	0.76074	.	.	ENSG00000198729	ENST00000361131	T	0.55930	0.49	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.56124	1.755	0.44702	D	0.997699	D	0.76494	0.999	D	0.68039	0.955	T	0.59963	-0.7355	10	0.46703	T	0.11	-17.6136	14.3708	0.66838	0.0708:0.0:0.9292:0.0	.	150	Q8TAE6	PP14C_HUMAN	Q	150	ENSP00000355260:R150Q	ENSP00000355260:R150Q	R	+	2	0	PPP1R14C	150611600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.986000	0.76200	1.370000	0.46153	0.650000	0.86243	CGG		0.393	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		26	27	0	0	0	1	0	26	27				
CPSF7	79869	broad.mit.edu	37	11	61183967	61183967	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:61183967C>T	ENST00000394888.4	-	6	747	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CPSF7_ENST00000340437.4_Missense_Mutation_p.R235Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183Q	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	192					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R192L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTAGAATCTCGGGAATGGGC	0.522																																						ENST00000340437.4																			1	Substitution - Missense(1)	p.R192L(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(703-705)cGa>cAa		cleavage and polyadenylation specific factor 7, 59kDa							82.0	81.0	82.0					11																	61183967		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183967C>T		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.575G>A	11.37:g.61183967C>T	ENSP00000378352:p.Arg192Gln					CPSF7_ENST00000394888.4_Missense_Mutation_p.R192Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183Q	p.R235Q	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	784	-			192			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.704G>A	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820588	0.32145	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.77	4.86	0.63082	.	0.251543	0.35013	N	0.003512	T	0.59142	0.2172	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.14012	0.005;0.003;0.009;0.005	B;B;B;B	0.06405	0.0;0.0;0.002;0.001	T	0.52381	-0.8583	10	0.12766	T	0.61	-1.6057	10.629	0.45525	0.0:0.8529:0.0:0.1471	.	183;192;235;183	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	Q	235;192;183;183;183;183;183;183	ENSP00000397203:R183Q;ENSP00000407394:R183Q;ENSP00000437860:R183Q;ENSP00000438381:R183Q;ENSP00000437531:R183Q;ENSP00000393828:R183Q	ENSP00000345412:R235Q	R	-	2	0	CPSF7	60940543	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.308000	0.43690	1.449000	0.47699	-0.136000	0.14681	CGA		0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		56	62	0	0	0	1	0	56	62				
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4																			0											c.(160-162)gGc>gAc		histone cluster 1, H2bo							161.0	145.0	151.0					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp						p.G54D	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		4	230	0	0	0	1	0	4	230				
KANK1	23189	broad.mit.edu	37	9	731264	731264	+	Silent	SNP	A	A	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:731264A>C	ENST00000382303.1	+	9	3655	c.3003A>C	c.(3001-3003)ggA>ggC	p.G1001G	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1001					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCATTAATGGAGGGTAAGGAA	0.438																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3001-3003)ggA>ggC		KN motif and ankyrin repeat domains 1							119.0	110.0	113.0					9																	731264		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:731264A>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3003A>C	9.37:g.731264A>C						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	9	3655	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1001					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3003A>C	CCDS34976.1																																																																																				0.438	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		11	24	0	0	0	1	0	11	24				
EGF	1950	broad.mit.edu	37	4	110864507	110864507	+	Missense_Mutation	SNP	T	T	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:110864507T>G	ENST00000265171.5	+	3	870	c.425T>G	c.(424-426)gTa>gGa	p.V142G	EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	142					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATCATTACAGTAACAGATATG	0.313																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(424-426)gTa>gGa		epidermal growth factor	Sulindac(DB00605)						79.0	83.0	81.0					4																	110864507		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864507T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.425T>G	4.37:g.110864507T>G	ENSP00000265171:p.Val142Gly					EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	p.V142G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	870	+		Hepatocellular(203;0.0893)	142					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.425T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477818	0.44044	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.28895	1.59;1.59;1.59	5.6	4.22	0.49857	Six-bladed beta-propeller, TolB-like (1);	0.466144	0.26769	N	0.022586	T	0.41096	0.1144	M	0.80746	2.51	0.45066	D	0.998087	P;D;P	0.53151	0.93;0.958;0.882	B;P;B	0.48921	0.391;0.595;0.391	T	0.44937	-0.9295	10	0.72032	D	0.01	.	7.7074	0.28659	0.0:0.1533:0.0:0.8467	.	142;142;142	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	142	ENSP00000424316:V142G;ENSP00000265171:V142G;ENSP00000421384:V142G	ENSP00000265171:V142G	V	+	2	0	EGF	111083956	0.968000	0.33430	0.998000	0.56505	0.997000	0.91878	1.384000	0.34396	2.133000	0.65898	0.528000	0.53228	GTA		0.313	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			58	76	0	0	0	1	0	58	76				
METTL13	51603	broad.mit.edu	37	1	171761209	171761209	+	Silent	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:171761209C>T	ENST00000361735.3	+	6	1793	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000367737.5_Silent_p.L353L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	509							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCTCCCCCTCTTTGTCCACG	0.527																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1525-1527)ctC>ctT		methyltransferase like 13							132.0	119.0	123.0					1																	171761209		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171761209C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1527C>T	1.37:g.171761209C>T						METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L	p.L509L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			6	1793	+			509					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1527C>T	CCDS1299.1																																																																																				0.527	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		48	70	0	0	0	1	0	48	70				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	19	0	0	0	1	0	3	19				
CDH23	64072	broad.mit.edu	37	10	73437370	73437370	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr10:73437370G>A	ENST00000224721.6	+	15	1692	c.1687G>A	c.(1687-1689)Gtg>Atg	p.V563M	CDH23_ENST00000299366.7_Missense_Mutation_p.V603M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	558	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACGACAACGTGCCCACCTT	0.632																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1687-1689)Gtg>Atg		cadherin-related 23							36.0	40.0	39.0					10																	73437370		2130	4247	6377	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73437370G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1687G>A	10.37:g.73437370G>A	ENSP00000224721:p.Val563Met					CDH23_ENST00000299366.7_Missense_Mutation_p.V603M	p.V563M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			15	1692	+			558			Cadherin 6.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1687G>A		.	.	.	.	.	.	.	.	.	.	g	11.94	1.790048	0.31685	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.49	2.6	0.31112	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.769546	0.11509	N	0.556899	T	0.44329	0.1288	L	0.35341	1.055	0.80722	D	1	B;B;B	0.24132	0.098;0.029;0.016	B;B;B	0.15052	0.012;0.01;0.007	T	0.27938	-1.0059	9	0.44086	T	0.13	.	9.1499	0.36955	0.3449:0.0:0.6551:0.0	.	558;561;558	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	M	563;558;558;561;561;75	.	ENSP00000224721:V563M	V	+	1	0	CDH23	73107376	0.964000	0.33143	0.870000	0.34147	0.711000	0.40976	1.669000	0.37492	0.707000	0.31934	-0.222000	0.12452	GTG		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	6	0	0	0	1	0	8	6				
HTR1A	3350	broad.mit.edu	37	5	63256592	63256592	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:63256592C>T	ENST00000323865.3	-	1	1188	c.955G>A	c.(955-957)Gcc>Acc	p.A319T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	319					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGAAAGAGGCGGGGGCACAA	0.632																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(955-957)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						46.0	49.0	48.0					5																	63256592		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256592C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.955G>A	5.37:g.63256592C>T	ENSP00000316244:p.Ala319Thr					RP11-158J3.2_ENST00000502882.1_RNA	p.A319T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1188	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	319					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.955G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	5.148	0.212921	0.09757	.	.	ENSG00000178394	ENST00000323865	T	0.62788	0.0	5.7	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	1.160630	0.06370	N	0.713439	T	0.36635	0.0974	N	0.20807	0.61	0.09310	N	0.999995	B	0.02656	0.0	B	0.08055	0.003	T	0.13656	-1.0501	10	0.10636	T	0.68	.	0.9262	0.01325	0.2312:0.318:0.1152:0.3356	.	319	P08908	5HT1A_HUMAN	T	319	ENSP00000316244:A319T	ENSP00000316244:A319T	A	-	1	0	HTR1A	63292348	0.000000	0.05858	0.041000	0.18516	0.451000	0.32288	-0.887000	0.04152	-0.257000	0.09459	-0.274000	0.10170	GCC		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		6	69	0	0	0	1	0	6	69				
AJAP1	55966	broad.mit.edu	37	1	4772618	4772618	+	Missense_Mutation	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:4772618A>G	ENST00000378191.4	+	2	1069	c.688A>G	c.(688-690)Acg>Gcg	p.T230A	AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		cacccccaTGACGCTGCAGAC	0.617																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(688-690)Acg>Gcg		adherens junctions associated protein 1							38.0	38.0	38.0					1																	4772618		2202	4299	6501	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772618A>G	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.688A>G	1.37:g.4772618A>G	ENSP00000367433:p.Thr230Ala					AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1069	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	230			Thr-rich.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.688A>G	CCDS54.1	.	.	.	.	.	.	.	.	.	.	A	5.603	0.295997	0.10622	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56941	0.43;0.43	5.35	-0.175	0.13315	.	0.255013	0.30809	N	0.008838	T	0.29684	0.0741	L	0.27053	0.805	0.20638	N	0.999874	B	0.14805	0.011	B	0.18263	0.021	T	0.06789	-1.0807	10	0.33940	T	0.23	-6.7891	1.596	0.02664	0.4819:0.1484:0.0832:0.2864	.	230	Q9UKB5	AJAP1_HUMAN	A	230	ENSP00000367432:T230A;ENSP00000367433:T230A	ENSP00000367432:T230A	T	+	1	0	AJAP1	4672478	0.977000	0.34250	0.060000	0.19600	0.840000	0.47671	2.464000	0.45067	0.005000	0.14708	0.383000	0.25322	ACG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		23	13	0	0	0	1	0	23	13				
RAB24	53917	broad.mit.edu	37	5	176728925	176728925	+	Splice_Site	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:176728925C>G	ENST00000303251.6	-	7	967		c.e7+1		PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Splice_Site	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537																																						ENST00000303270.6																			1	Unknown(1)	p.?(1)	kidney(1)								c.e6+1		RAB24, member RAS oncogene family							122.0	121.0	121.0					5																	176728925		2203	4300	6503	SO:0001630	splice_region_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176728925C>G	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.547+1G>C	5.37:g.176728925C>G						RAB24_ENST00000303251.6_Splice_Site|RAB24_ENST00000393611.2_Splice_Site				Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1063	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q7Z4Z7	Splice_Site	SNP	ENST00000303251.6	37		CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620257	0.66787	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB24	176661531	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.920000	0.75799	2.432000	0.82394	0.561000	0.74099	.		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Intron	29	44	0	0	0	1	0	29	44				
TCEB3B	51224	broad.mit.edu	37	18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:44561290C>T	ENST00000332567.4	-	1	698	c.346G>A	c.(346-348)Gcg>Acg	p.A116T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	116					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A116T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCCGTCGCGTTTTCTGGG	0.662																																						ENST00000332567.4																			1	Substitution - Missense(1)	p.A116T(1)	large_intestine(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(346-348)Gcg>Acg		transcription elongation factor B polypeptide 3B (elongin A2)							45.0	53.0	50.0					18																	44561290		2199	4296	6495	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561290C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.346G>A	18.37:g.44561290C>T	ENSP00000331302:p.Ala116Thr					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A116T	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	698	-			116					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.346G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	5.944	0.358254	0.11239	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.61	-5.22	0.02806	.	1.448910	0.05242	U	0.512412	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P	0.46020	0.871	B	0.33521	0.165	T	0.20806	-1.0264	10	0.22706	T	0.39	2.3089	1.5561	0.02585	0.1498:0.3783:0.2263:0.2456	.	116	Q8IYF1	ELOA2_HUMAN	T	116	ENSP00000331302:A116T	ENSP00000331302:A116T	A	-	1	0	TCEB3B	42815288	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-2.991000	0.00279	-0.534000	0.04291	GCG		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	78	0	0	0	1	0	4	78				
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			3	6						3	6	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	840577	840577	+	Intron	DEL	G	G	-			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:840577delG	ENST00000283441.8	-	5	1168				ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000511539.1_Frame_Shift_Del_p.Q60fs|ZDHHC11_ENST00000503758.2_Intron	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACCCAGCCTTGGGGGGATCGG	0.602																																						ENST00000511539.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(178-180)aafs		zinc finger, DHHC-type containing 11							42.0	42.0	42.0					5																	840577		2203	4300	6503	SO:0001627	intron_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840577delG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.784+32C>-	5.37:g.840577delG						ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron	p.Q60fs			Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		2	282	-			0					Q6UWR9	Frame_Shift_Del	DEL	ENST00000283441.8	37	c.178delC	CCDS3857.1																																																																																				0.602	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		11	103						11	103	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136594312	136594313	+	Frame_Shift_Ins	INS	-	-	TTGAAGTATTGCTCTG			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	ENST00000531224.1	-	7	2117_2118	c.1865_1866insCAGAGCAATACTTCAA	c.(1864-1866)aagfs	p.K622fs	BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	622					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCAGCTGACTTGAAGTATTG	0.401																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1864-1866)atcfs		BCL2-associated transcription factor 1																																				SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1865_1866insCAGAGCAATACTTCAA	6.37:g.136594312_136594313insTTGAAGTATTGCTCTG	ENSP00000435210:p.Lys622fs					BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.I449fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.I622fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.I620fs	p.I622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2117_2118	-	Colorectal(23;0.24)		622					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Ins	INS	ENST00000531224.1	37	c.1865_1866insCAGAGCAATACTTCAA	CCDS5177.1																																																																																				0.401	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		11	259						11	259	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C	rs376935907		TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCTTCATCCCTCACCCCCCCCC	0.46																																						ENST00000430126.2																			0																																																			0							g.chr7:65150814_65150815insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150815_65150815dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.460	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		2	4						2	4	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	6						4	6	---	---	---	---
